Variant: 2-238475278-C-G



Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
2-238475278-C-G p.Ala21Gly missense PRLH 1 81564 1.22603105E-5 40782 0 4.31509E-5


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
missense PRLH ENST00000165524 c.62C>G p.Ala21Gly NA
downstream_gene RNU6-1140P ENST00000410517 n.*3365C>G NA NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
3.45566E-5 NA 4.31509E-5 NA NA NA NA


Carrier

Gender count:
Ancestry count:

Public Available Gender Phenotype Ancestry GT DP Percent Alt Read GQ FILTER
Yes F kidney and urological disease EastAsian HET 41 0.6097561 99 PASS