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rs104886204

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104886204(-;-)
Make rs104886204(-;A)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108624261
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886204
ebirs104886204
HLIrs104886204
Exacrs104886204
Varsomers104886204
Maprs104886204
PheGenIrs104886204
hapmaprs104886204
1000 genomesrs104886204
hgdprs104886204
ensemblrs104886204
gopubmedrs104886204
geneviewrs104886204
scholarrs104886204
googlers104886204
pharmgkbrs104886204
gwascentralrs104886204
openSNPrs104886204
23andMers104886204
23andMe allrs104886204
SNP Nexus

SNPshotrs104886204
SNPdbers104886204
MSV3drs104886204
GWAS Ctlgrs104886204
Max Magnitude0
ClinVar
Risk rs104886204(;)
Alt rs104886204(;)
Reference rs104886204(A;A)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107867491delA
CLNSRC ClinVar
CLNACC RCV000021458.2,


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


[PMID 8081393] A novel frameshift deletion in type IV collagen alpha 5 gene in a juvenile-type Alport syndrome patient: an adenine deletion (2940/2943 del A) in exon 34 of COL4A5.

OMIM301050
Desc
Variant
Relatedalso