Variant: 2-238475295-C-T



Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
2-238475295-C-T p.Arg27Trp missense PRLH 5 81492 6.135571E-5 40746 0 7.45157E-5


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
missense PRLH ENST00000165524 c.79C>T p.Arg27Trp probably
downstream_gene RNU6-1140P ENST00000410517 n.*3382C>T NA NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
7.45157E-5 NA 1.7379E-5 3.18552E-5 NA NA NA


Carrier

Gender count:
Ancestry count:

Public Available Gender Phenotype Ancestry GT DP Percent Alt Read GQ FILTER
Yes F control African HET 29 0.31034482 99 PASS
Yes M schizophrenia African HET 48 0.5416667 99 PASS
Yes M cerebral palsy Caucasian HET 49 0.5510204 99 PASS
Yes M kidney and urological disease African HET 51 0.13725491 99 PASS
Yes F epilepsy African HET 61 0.4918033 99 PASS