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rs1057518721

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057518721(A;A)
Make rs1057518721(A;C)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position153723558
GeneABCD1, BCAP31
is asnp
is mentioned by
dbSNPrs1057518721
dbSNP (classic)rs1057518721
ClinGenrs1057518721
ebirs1057518721
HLIrs1057518721
Exacrs1057518721
Gnomadrs1057518721
Varsomers1057518721
LitVarrs1057518721
Maprs1057518721
PheGenIrs1057518721
Biobankrs1057518721
1000 genomesrs1057518721
hgdprs1057518721
ensemblrs1057518721
geneviewrs1057518721
scholarrs1057518721
googlers1057518721
pharmgkbrs1057518721
gwascentralrs1057518721
openSNPrs1057518721
23andMers1057518721
23andMe allrs1057518721
SNPshotrs1057518721
SNPdbers1057518721
MSV3drs1057518721
GWAS Ctlgrs1057518721
Max Magnitude0

aka c.107C>A (p.Ser36Ter)

Reported in ClinVar as associated with Chromosome Xq28 deletion syndrome; hemizygous mutation in the BCAP31 gene can lead to deafness, dystonia, and cerebral hypomyelination (DDCH)

ClinVar
Risk rs1057518721(A;A)
Alt rs1057518721(A;A)
Reference Rs1057518721(C;C)
Significance Pathogenic
Disease Chromosome Xq28 deletion syndrome
Variation info
Gene BCAP31 ABCD1
CLNDBN Chromosome Xq28 deletion syndrome
Reversed 1
HGVS NC_000023.10:g.152989013G>T
CLNSRC
CLNACC RCV000415452.1,