Variant: 2-238475284-G-A



Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
2-238475284-G-A p.Ser23Asn missense PRLH 1 81518 1.2267229E-5 40759 0 NA


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
missense PRLH ENST00000165524 c.68G>A p.Ser23Asn benign
downstream_gene RNU6-1140P ENST00000410517 n.*3371G>A 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 83 0.38554215 99 PASS