Variant: 2-238475286-C-T



Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
2-238475286-C-T p.Arg24Cys missense PRLH 1 80898 1.2361245E-5 40449 0 NA


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
missense PRLH ENST00000165524 c.70C>T p.Arg24Cys probably
downstream_gene RNU6-1140P ENST00000410517 n.*3373C>T NA NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
0 NA 0 NA NA NA NA


Carrier

Gender count:
Ancestry count:

Public Available Gender Phenotype Ancestry GT DP Percent Alt Read GQ FILTER
Yes F healthy family member Caucasian HET 42 0.42857143 99 PASS