Variant: 2-238475314-G-T



Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
2-238475314-G-T p.Arg33Leu missense+splice_region PRLH 1 80258 1.2459817E-5 40129 0 6.30764E-6


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
missense+splice_region PRLH ENST00000165524 c.98G>T p.Arg33Leu NA
missense PRLH ENST00000165524 c.98G>T p.Arg33Leu probably
splice_region PRLH ENST00000165524 c.98G>T p.Arg33Leu NA
downstream_gene RNU6-1140P ENST00000410517 n.*3401G>T NA NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
NA NA 6.30764E-6 NA NA NA NA


Carrier

Gender count:
Ancestry count:

Public Available Gender Phenotype Ancestry GT DP Percent Alt Read GQ FILTER
Yes F pulmonary disease Caucasian HET 7 0.2857143 57 PASS