Variant: 2-238475271-C-T



Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
2-238475271-C-T p.Arg19Trp missense PRLH 2 80936 2.4710882E-5 40468 0 1.57797E-5


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
missense PRLH ENST00000165524 c.55C>T p.Arg19Trp NA
downstream_gene RNU6-1140P ENST00000410517 n.*3358C>T NA NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
0 NA 1.57797E-5 NA NA NA NA


Carrier

Gender count:
Ancestry count:

Public Available Gender Phenotype Ancestry GT DP Percent Alt Read GQ FILTER
Yes M control Caucasian HET 32 0.40625 99 PASS
Yes M kidney and urological disease Caucasian HET 50 0.44 99 PASS