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rs104886397

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104886397(A;T)
Make rs104886397(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108680883
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886397
ebirs104886397
HLIrs104886397
Exacrs104886397
Varsomers104886397
Maprs104886397
PheGenIrs104886397
hapmaprs104886397
1000 genomesrs104886397
hgdprs104886397
ensemblrs104886397
gopubmedrs104886397
geneviewrs104886397
scholarrs104886397
googlers104886397
pharmgkbrs104886397
gwascentralrs104886397
openSNPrs104886397
23andMers104886397
23andMe allrs104886397
SNP Nexus

SNPshotrs104886397
SNPdbers104886397
MSV3drs104886397
GWAS Ctlgrs104886397
Max Magnitude0
ClinVar
Risk rs104886397(G,T;G,T)
Alt rs104886397(G,T;G,T)
Reference rs104886397(A;A)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107924113A>G; NC_000023.10:g.107924113A>T
CLNSRC ARUP COL4A5
CLNACC RCV000021577.1, RCV000021576.1,


[PMID 18332068] Somatic mosaicism for a mutation of the COL4A5 gene is a cause of mild phenotype male Alport syndrome.


[PMID 8651296OA-icon.png] X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene.

OMIM301050
Desc
Variant
Relatedalso