Variant: 2-238475357-T-C



Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
2-238475357-T-C n.*3444T>C downstream_gene RNU6-1140P 1 78862 1.2680378E-5 39431 0 NA


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
downstream_gene RNU6-1140P ENST00000410517 n.*3444T>C NA NA
intron PRLH ENST00000165524 c.100+41T>C NA 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 M kidney and urological disease Caucasian HET 10 0.2 60 PASS