Variant: 2-238475313-C-A



Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
2-238475313-C-A p.Arg33Ser missense PRLH 3 80922 3.7072736E-5 40461 0 NA


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
missense PRLH ENST00000165524 c.97C>A p.Arg33Ser probably
downstream_gene RNU6-1140P ENST00000410517 n.*3400C>A NA NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
NA NA 0 NA NA NA NA


Carrier

Gender count:
Ancestry count:

Public Available Gender Phenotype Ancestry GT DP Percent Alt Read GQ FILTER
Yes M kidney and urological disease MiddleEastern HET 54 0.6111111 99 PASS
Yes M kidney and urological disease Caucasian HET 48 0.5208333 99 PASS
Yes F kidney and urological disease Caucasian HET 57 0.54385966 99 PASS