rs1057518721

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs1057518721(A;A)

Make rs1057518721(A;C)

Reference

GRCh38.p7 38.3/150

Chromosome

X

Position

153723558

Gene	ABCD1, BCAP31

is a	snp
is	mentioned by
dbSNP	rs1057518721
dbSNP (classic)	rs1057518721
ClinGen	rs1057518721
ebi	rs1057518721
HLI	rs1057518721
Exac	rs1057518721
Gnomad	rs1057518721
Varsome	rs1057518721
LitVar	rs1057518721
Map	rs1057518721
PheGenI	rs1057518721
Biobank	rs1057518721
1000 genomes	rs1057518721
hgdp	rs1057518721
ensembl	rs1057518721
geneview	rs1057518721
scholar	rs1057518721
google	rs1057518721
pharmgkb	rs1057518721
gwascentral	rs1057518721
openSNP	rs1057518721
23andMe	rs1057518721
SNPshot	rs1057518721
SNPdbe	rs1057518721
MSV3d	rs1057518721
GWAS Ctlg	rs1057518721

Max Magnitude

0

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,