Variant: 2-238475296-G-A



Variant

Variant ID Effect Gene AC AN AF NS NHOM
2-238475296-G-A missense_variant PRLH 1 80684 1.2394031E-5 40342 0


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
missense_variant PRLH ENST00000165524 c.80G>A p.Arg27Gln benign
downstream_gene_variant 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:
1 Male
0 Female
0 Ambiguous
0 NA
Ethnicity count:
0 African
1 Caucasian
0 EastAsian
0 Hispanic
0 MiddleEastern
0 SouthAsian
0 NA

Public Available Gender Phenotype Ethnicity GT DP GQ FILTER
Yes M epilepsy Caucasian HET 35 99 PASS