Variant: 2-238475250-C-T



Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
2-238475250-C-T p.Leu12Leu synonymous PRLH 1 80982 1.2348423E-5 40491 0 5.03804E-6


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
synonymous PRLH ENST00000165524 c.34C>T p.Leu12Leu NA
downstream_gene RNU6-1140P ENST00000410517 n.*3337C>T NA NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
NA NA 5.03804E-6 NA NA NA 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 0.4857143 99 PASS