Variant: 2-238475296-G-A



Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
2-238475296-G-A p.Arg27Gln missense PRLH 1 80752 1.2383594E-5 40376 0 NA


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
missense PRLH ENST00000165524 c.80G>A p.Arg27Gln benign
downstream_gene RNU6-1140P ENST00000410517 n.*3383G>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 epilepsy Caucasian HET 35 0.6 99 PASS