rs104886088

Orientation

plus

Stabilized

plus

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

Make rs104886088(A;A)

Make rs104886088(A;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108582920

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886088
dbSNP (classic)	rs104886088
ClinGen	rs104886088
ebi	rs104886088
HLI	rs104886088
Exac	rs104886088
Gnomad	rs104886088
Varsome	rs104886088
LitVar	rs104886088
Map	rs104886088
PheGenI	rs104886088
Biobank	rs104886088
1000 genomes	rs104886088
hgdp	rs104886088
ensembl	rs104886088
geneview	rs104886088
scholar	rs104886088
google	rs104886088
pharmgkb	rs104886088
gwascentral	rs104886088
openSNP	rs104886088
23andMe	rs104886088
SNPshot	rs104886088
SNPdbe	rs104886088
MSV3d	rs104886088
GWAS Ctlg	rs104886088

Max Magnitude

0

OMIM	303630
Desc
Variant	0007
Related	also

ClinVar
Risk	rs104886088(A;A) rs104886088(T;T)
Alt	rs104886088(A;A) rs104886088(T;T)
Reference	Rs104886088(G;G)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107826150G>A; NC_000023.10:g.107826150G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011205.3, RCV000021231.1,

[PMID 11223851] Efficient detection of Alport syndrome COL4A5 mutations with multiplex genomic PCR-SSCP.

[PMID 8648925] The COL4A5 gene in Japanese Alport syndrome patients: spectrum of mutations of all exons. The Japanese Alport Network.