Variant: 1-69284-C-G



Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
1-69284-C-G p.Ser65Cys missense OR4F5 3 15212 1.9721272E-4 7606 1 NA


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
missense OR4F5 ENST00000335137 c.194C>G p.Ser65Cys NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
NA NA NA NA NA NA NA


Carrier

Gender count:
Ancestry count:

Public Available Gender Phenotype Ancestry GT DP Percent Alt Read GQ FILTER
Yes F brain malformation MiddleEastern HET 48 0.4375 99 FAIL
Yes M healthy family member MiddleEastern HOM 3 1.0 9 LIKELY