FLVCR1, FLVCR heme transporter 1, 28982

N. diseases: 188; N. variants: 12
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1468358104
rs1468358104
Entrez Id: 28982;642946
Gene Symbol: FLVCR1;FLVCR1-DT
FLVCR1;FLVCR1-DT
CUI: C0027889
Disease:
Hereditary Sensory and Autonomic Neuropathies 		0.010 GeneticVariation BEFREE We overexpressed the c.2T>C; p.(Met1Thr) mutant in human cell lines and we describe its impact on protein structure and function in comparison with other HSAN-related mutations. 31408049 2019
dbSNP: rs529365517
rs529365517
Entrez Id: 28982;642946
Gene Symbol: FLVCR1;FLVCR1-DT
FLVCR1;FLVCR1-DT
CUI: C0025202
Disease:
melanoma 		0.010 GeneticVariation BEFREE A point mutation (P29S) in the RAS-related C3 botulinum toxin substrate 1 (RAC1) was considered to be a trigger for melanoma, a form of skin cancer with highest mortality rate. 27699663 2016
dbSNP: rs529365517
rs529365517
Entrez Id: 28982;642946
Gene Symbol: FLVCR1;FLVCR1-DT
FLVCR1;FLVCR1-DT
CUI: C0007114
Disease:
Malignant neoplasm of skin 		0.010 GeneticVariation BEFREE A point mutation (P29S) in the RAS-related C3 botulinum toxin substrate 1 (RAC1) was considered to be a trigger for melanoma, a form of skin cancer with highest mortality rate. 27699663 2016
dbSNP: rs529365517
rs529365517
Entrez Id: 28982;642946
Gene Symbol: FLVCR1;FLVCR1-DT
FLVCR1;FLVCR1-DT
CUI: C0596263
Disease:
Carcinogenesis 		0.010 GeneticVariation BEFREE Impact of point mutation P29S in RAC1 on tumorigenesis. 27699663 2016
dbSNP: rs753000469
rs753000469
Entrez Id: 28982;642946
Gene Symbol: FLVCR1;FLVCR1-DT
FLVCR1;FLVCR1-DT
CUI: C0259749
Disease:
Autonomic neuropathy 		0.010 GeneticVariation BEFREE Posterior column ataxia with retinitis pigmentosa coexisting with sensory-autonomic neuropathy and leukemia due to the homozygous p.Pro221Ser FLVCR1 mutation. 28766925 2017
dbSNP: rs753000469
rs753000469
Entrez Id: 28982;642946
Gene Symbol: FLVCR1;FLVCR1-DT
FLVCR1;FLVCR1-DT
CUI: C1332977
Disease:
Childhood Leukemia 		0.010 GeneticVariation BEFREE Posterior column ataxia with retinitis pigmentosa coexisting with sensory-autonomic neuropathy and leukemia due to the homozygous p.Pro221Ser FLVCR1 mutation. 28766925 2017
dbSNP: rs753000469
rs753000469
Entrez Id: 28982;642946
Gene Symbol: FLVCR1;FLVCR1-DT
FLVCR1;FLVCR1-DT
CUI: C1836916
Disease:
POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA 		0.010 GeneticVariation BEFREE Posterior column ataxia with retinitis pigmentosa coexisting with sensory-autonomic neuropathy and leukemia due to the homozygous p.Pro221Ser FLVCR1 mutation. 28766925 2017
dbSNP: rs753000469
rs753000469
Entrez Id: 28982;642946
Gene Symbol: FLVCR1;FLVCR1-DT
FLVCR1;FLVCR1-DT
CUI: C0023418
Disease:
leukemia 		0.010 GeneticVariation BEFREE Posterior column ataxia with retinitis pigmentosa coexisting with sensory-autonomic neuropathy and leukemia due to the homozygous p.Pro221Ser FLVCR1 mutation. 28766925 2017
dbSNP: rs267606819
rs267606819
Entrez Id: 28982;642946
Gene Symbol: FLVCR1;FLVCR1-DT
FLVCR1;FLVCR1-DT
CUI: C1836916
Disease:
POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA 		A 0.800 CausalMutation CLINVAR
dbSNP: rs267606820
rs267606820
Entrez Id: 28982;642946
Gene Symbol: FLVCR1;FLVCR1-DT
FLVCR1;FLVCR1-DT
CUI: C1836916
Disease:
POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA 		G 0.800 CausalMutation CLINVAR
dbSNP: rs267606821
rs267606821
Entrez Id: 28982;642946
Gene Symbol: FLVCR1;FLVCR1-DT
FLVCR1;FLVCR1-DT
CUI: C1836916
Disease:
POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA 		C 0.800 CausalMutation CLINVAR
dbSNP: rs1468358104
rs1468358104
Entrez Id: 28982;642946
Gene Symbol: FLVCR1;FLVCR1-DT
FLVCR1;FLVCR1-DT
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 GeneticVariation CLINVAR Mutations in the Heme Exporter FLVCR1 Cause Sensory Neurodegeneration with Loss of Pain Perception. 27923065 2016
dbSNP: rs1468358104
rs1468358104
Entrez Id: 28982;642946
Gene Symbol: FLVCR1;FLVCR1-DT
FLVCR1;FLVCR1-DT
CUI: C0026650
Disease:
Movement Disorders 		C 0.700 GeneticVariation CLINVAR Autosomal recessive posterior column ataxia with retinitis pigmentosa caused by novel mutations in the FLVCR1 gene. 24628582 2015
dbSNP: rs1468358104
rs1468358104
Entrez Id: 28982;642946
Gene Symbol: FLVCR1;FLVCR1-DT
FLVCR1;FLVCR1-DT
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 GeneticVariation CLINVAR An autosomal recessive disorder with posterior column ataxia and retinitis pigmentosa. 9409377 1997
dbSNP: rs1468358104
rs1468358104
Entrez Id: 28982;642946
Gene Symbol: FLVCR1;FLVCR1-DT
FLVCR1;FLVCR1-DT
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 GeneticVariation CLINVAR Posterior column ataxia with retinitis pigmentosa in a Japanese family with a novel mutation in FLVCR1. 21267618 2011
dbSNP: rs1468358104
rs1468358104
Entrez Id: 28982;642946
Gene Symbol: FLVCR1;FLVCR1-DT
FLVCR1;FLVCR1-DT
CUI: C0026650
Disease:
Movement Disorders 		C 0.700 GeneticVariation CLINVAR Genetic mapping and exome sequencing identify variants associated with five novel diseases. 22279524 2012
dbSNP: rs1468358104
rs1468358104
Entrez Id: 28982;642946
Gene Symbol: FLVCR1;FLVCR1-DT
FLVCR1;FLVCR1-DT
CUI: C0026650
Disease:
Movement Disorders 		C 0.700 GeneticVariation CLINVAR An autosomal recessive disorder with posterior column ataxia and retinitis pigmentosa. 9409377 1997
dbSNP: rs1468358104
rs1468358104
Entrez Id: 28982;642946
Gene Symbol: FLVCR1;FLVCR1-DT
FLVCR1;FLVCR1-DT
CUI: C0026650
Disease:
Movement Disorders 		C 0.700 GeneticVariation CLINVAR Mutations in the Heme Exporter FLVCR1 Cause Sensory Neurodegeneration with Loss of Pain Perception. 27923065 2016
dbSNP: rs1468358104
rs1468358104
Entrez Id: 28982;642946
Gene Symbol: FLVCR1;FLVCR1-DT
FLVCR1;FLVCR1-DT
CUI: C0026650
Disease:
Movement Disorders 		C 0.700 GeneticVariation CLINVAR Mutations in FLVCR1 cause posterior column ataxia and retinitis pigmentosa. 21070897 2010
dbSNP: rs1468358104
rs1468358104
Entrez Id: 28982;642946
Gene Symbol: FLVCR1;FLVCR1-DT
FLVCR1;FLVCR1-DT
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 GeneticVariation CLINVAR Genetic mapping and exome sequencing identify variants associated with five novel diseases. 22279524 2012
dbSNP: rs1468358104
rs1468358104
Entrez Id: 28982;642946
Gene Symbol: FLVCR1;FLVCR1-DT
FLVCR1;FLVCR1-DT
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 GeneticVariation CLINVAR Mutations in FLVCR1 cause posterior column ataxia and retinitis pigmentosa. 21070897 2010
dbSNP: rs1468358104
rs1468358104
Entrez Id: 28982;642946
Gene Symbol: FLVCR1;FLVCR1-DT
FLVCR1;FLVCR1-DT
CUI: C0026650
Disease:
Movement Disorders 		C 0.700 GeneticVariation CLINVAR Posterior column ataxia with retinitis pigmentosa in a Japanese family with a novel mutation in FLVCR1. 21267618 2011
dbSNP: rs1468358104
rs1468358104
Entrez Id: 28982;642946
Gene Symbol: FLVCR1;FLVCR1-DT
FLVCR1;FLVCR1-DT
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 GeneticVariation CLINVAR Autosomal recessive posterior column ataxia with retinitis pigmentosa caused by novel mutations in the FLVCR1 gene. 24628582 2015
dbSNP: rs1558104145
rs1558104145
Entrez Id: 28982;642946
Gene Symbol: FLVCR1;FLVCR1-DT
FLVCR1;FLVCR1-DT
CUI: C0265275
Disease:
Jeune thoracic dystrophy 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1558121050
rs1558121050
Entrez Id: 28982
Gene Symbol: FLVCR1
FLVCR1
CUI: C1836916
Disease:
POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA 		C 0.700 CausalMutation CLINVAR