Variant: 2-238475232-G-T



Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
2-238475232-G-T p.Ala6Ser missense PRLH 9 9082 9.909711E-4 4541 0 6.25E-4


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
missense PRLH ENST00000165524 c.16G>T p.Ala6Ser NA
downstream_gene RNU6-1140P ENST00000410517 n.*3319G>T NA NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
6.21118E-4 NA 2.66742E-4 5.09716E-4 NA 6.25E-4 NA


Carrier

Gender count:
Ancestry count:

Public Available Gender Phenotype Ancestry GT DP Percent Alt Read GQ FILTER
Yes M amyotrophic lateral sclerosis Caucasian HET 35 0.54285717 99 PASS