rs104886321

Orientation

plus

Stabilized

plus

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

Make rs104886321(-;-)

Make rs104886321(-;CCAGGCCCC)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108591587

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886321
dbSNP (classic)	rs104886321
ClinGen	rs104886321
ebi	rs104886321
HLI	rs104886321
Exac	rs104886321
Gnomad	rs104886321
Varsome	rs104886321
LitVar	rs104886321
Map	rs104886321
PheGenI	rs104886321
Biobank	rs104886321
1000 genomes	rs104886321
hgdp	rs104886321
ensembl	rs104886321
geneview	rs104886321
scholar	rs104886321
google	rs104886321
pharmgkb	rs104886321
gwascentral	rs104886321
openSNP	rs104886321
23andMe	rs104886321
SNPshot	rs104886321
SNPdbe	rs104886321
MSV3d	rs104886321
GWAS Ctlg	rs104886321

Merged from

Rs281874665

Max Magnitude

0

ClinVar
Risk	rs104886321(-;-) rs104886321(CCCCCCAGG;CCCCCCAGG)
Alt	rs104886321(-;-) rs104886321(CCCCCCAGG;CCCCCCAGG)
Reference	Rs104886321(CCAGGCCCC;CCAGGCCCC)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107834822_107834830delCCCCCCAGG
CLNSRC	ClinVar
CLNACC	RCV000021282.2,

[PMID 9848783] High mutation detection rate in the COL4A5 collagen gene in suspected Alport syndrome using PCR and direct DNA sequencing.