Variant: 2-238475376-G-C



Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
2-238475376-G-C n.*3463G>C downstream_gene RNU6-1140P 2 78416 2.5504998E-5 39208 0 NA


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
downstream_gene RNU6-1140P ENST00000410517 n.*3463G>C NA NA
intron PRLH ENST00000165524 c.100+60G>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 healthy family member Hispanic HET 30 0.46666667 99 PASS
Yes M congenital disorder Hispanic HET 26 0.61538464 99 LIKELY