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rs104886321

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CCAGGCCCC;CCAGGCCCC) 0 common in clinvar
Make rs104886321(-;-)
Make rs104886321(-;CCAGGCCCC)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108591587
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886321
ebirs104886321
HLIrs104886321
Exacrs104886321
Varsomers104886321
Maprs104886321
PheGenIrs104886321
hapmaprs104886321
1000 genomesrs104886321
hgdprs104886321
ensemblrs104886321
gopubmedrs104886321
geneviewrs104886321
scholarrs104886321
googlers104886321
pharmgkbrs104886321
gwascentralrs104886321
openSNPrs104886321
23andMers104886321
23andMe allrs104886321
SNP Nexus

SNPshotrs104886321
SNPdbers104886321
MSV3drs104886321
GWAS Ctlgrs104886321
Max Magnitude0
ClinVar
Risk rs104886321(;)
Alt rs104886321(;)
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.