Variant: 2-238475313-C-A



Variant

Variant ID Effect Gene AC AN AF NS NHOM
2-238475313-C-A missense_variant PRLH 2 79216 2.5247426E-5 39608 0


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
missense_variant PRLH ENST00000165524 c.97C>A p.Arg33Ser probably
downstream_gene_variant RNU6-1140P ENST00000410517 n.*3400C>A NA NA


External AF

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


Carrier

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

Public Available Gender Phenotype Ethnicity GT DP GQ FILTER
Yes M kidney and urological disease Caucasian HET 48 99 PASS
Yes F kidney and urological disease Caucasian HET 57 99 PASS