GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
CIRH1A R565Wpathogenic, f=0.000recessive

Reported to cause North American Indian childhood cirrhosis in a recessive manner, as recorded in ClinVar by OMIM. This comes from Chagnon et al 2002 (PMID: 12417987) who found this homozygous in all five affected families studied. All cases were Ojibway-Cree children in Quebec with a shared haplotype indicating a common ancestor, and may have been linked to a different causal variant. ExAC data reports that this variant is fairly common in Latino ancestry (allele frequency of 1.9%, ~1 in 3,000 are homozygous). This strongly contradicts the variant as causing this disease, which is extremely rare and has only been described in aboriginal children in northwestern Quebec.

(52 web hits)

CIRH1A R636Cinsufficiently evaluated none, f=0.029unknown

(1 web hit)

CGI sample GS000006909
var-GS18555-1100-36-ASM
var-GS18537-1100-36-ASM
CGI sample GS00253-DNA_D01_200_37
CGI sample GS00253-DNA_C01_200_37
CGI sample GS01173-DNA_B02 from PGP sample 94378523
CIRH1A Y647Cinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_B05 from PGP sample 86486261
Total results: 3

Gene search

"GENE" or "GENE A123C":

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