Variant: 2-238475287-G-A



Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
2-238475287-G-A p.Arg24His missense PRLH 2 80888 2.4725547E-5 40444 0 3.61011E-5


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
missense PRLH ENST00000165524 c.71G>A p.Arg24His benign
downstream_gene RNU6-1140P ENST00000410517 n.*3374G>A NA NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
3.61011E-5 NA 1.13122E-5 NA NA NA NA


Carrier

Gender count:
Ancestry count:

Public Available Gender Phenotype Ancestry GT DP Percent Alt Read GQ FILTER
Yes M epilepsy Caucasian HET 50 0.52 99 PASS
Yes M kidney and urological disease MiddleEastern HET 28 0.42857143 99 PASS