Variant: 2-238475350-C-T



Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
2-238475350-C-T n.*3437C>T downstream_gene RNU6-1140P 1 79666 1.2552407E-5 39833 0 NA


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
downstream_gene RNU6-1140P ENST00000410517 n.*3437C>T NA NA
intron PRLH ENST00000165524 c.100+34C>T 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 11 0.18181819 57 PASS