rs201249971
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Identification of a novel mutation, c.686delAins18 (p.Asp229Glyfs*22), in the LIPH gene as a compound heterozygote with c.736T>A (p.Cys246Ser) in autosomal recessive woolly hair/hypotrichosis.
|
25899282 |
2015 |
rs201249971
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Compound heterozygous mutations in two distinct catalytic residues of the LIPH gene underlie autosomal recessive woolly hair in a Japanese family.
|
25201209 |
2014 |
rs201249971
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Expression studies of a novel splice site mutation in the LIPH gene identified in a Japanese patient with autosomal recessive woolly hair.
|
25271093 |
2014 |
rs201249971
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Prevalent founder mutation c.736T>A of LIPH in autosomal recessive woolly hair of Japanese leads to variable severity of hypotrichosis in adulthood.
|
22449147 |
2013 |
rs201249971
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Identification of 736T>A mutation of lipase H in Japanese siblings with autosomal recessive woolly hair.
|
21352330 |
2011 |
rs201249971
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Prevalent LIPH founder mutations lead to loss of P2Y5 activation ability of PA-PLA1alpha in autosomal recessive hypotrichosis.
|
20213768 |
2010 |
rs201249971
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Mutations in the LIPH gene in three Japanese families with autosomal recessive woolly hair/hypotrichosis.
|
19892526 |
2009 |
rs121917820
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Mutation analysis in the patient showed compound heterozygous mutations in exon 2 of CDSN, a nonsense mutation c.598C>T (p.[Gln200*]), previously associated with hypotrichosis simplex of the scalp, and a frame-shift mutation c.164_167dup (p.[Thr57Profs*6]), previously described in peeling skin disease.
|
31663161 |
2020 |
rs56234898
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Of 2,146 SNPs tested, a rare missense variant in the PTPN5 gene (rs56234898; minor allele frequency 1.5%) was significantly associated with decreased severity of post-burn HTS (P = 1.3×10-6).
|
26872063 |
2016 |
rs885479
|
|
|
0.010 |
GeneticVariation |
BEFREE |
MC1R SNP R163Q was also significantly (P<0.001) associated with severe HTS.
|
26030184 |
2015 |
rs587776925
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified the same mutation in a simplex HS case from the UK and an additional mutation (c.133G>A [p.Gly45Ser]) in a simplex HS case originating from Tunisia.
|
23246290 |
2013 |