KPTN, kaptin, actin binding protein, 11133

N. diseases: 17; N. variants: 5
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41 ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1295123083
rs1295123083 		1.000 19 47480341 frameshift variant -/T delins 7.0E-06
CUI: C3810225
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41 		0.700 0
dbSNP: rs374298314
rs374298314 		1.000 19 47479874 stop gained G/A;T snv 1.6E-05; 4.4E-05
CUI: C3810225
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41 		0.700 0
dbSNP: rs587777148
rs587777148 		1.000 19 47479918 splice acceptor variant -/GACCACATCTGCAGAACC delins 5.0E-04
CUI: C3810225
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41 		0.700 0
dbSNP: rs766372684
rs766372684 		1.000 19 47480760 splice donor variant -/TA delins 1.1E-04 9.8E-05
CUI: C3810225
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41 		0.700 0