Variant: 2-238475295-C-T



Variant

Variant ID Effect Gene AC AN AF NS NHOM
2-238475295-C-T missense_variant PRLH 5 79714 6.272424E-5 39857 0


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
missense_variant PRLH ENST00000165524 c.79C>T p.Arg27Trp probably
downstream_gene_variant 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 NA NA NA NA


Carrier

Gender count:
3 Male
2 Female
0 Ambiguous
0 NA
Ethnicity count:
4 African
1 Caucasian
0 EastAsian
0 Hispanic
0 MiddleEastern
0 SouthAsian
0 NA

Public Available Gender Phenotype Ethnicity GT DP GQ FILTER
Yes F control African HET 29 99 PASS
Yes M schizophrenia African HET 48 99 PASS
Yes M cerebral palsy Caucasian HET 49 99 PASS
Yes M kidney and urological disease African HET 51 99 PASS
Yes F epilepsy African HET 61 99 PASS