Variant: 2-238475313-C-G



Variant

Variant ID Effect Gene AC AN AF NS NHOM
2-238475313-C-G missense_variant PRLH 22 79216 2.7772167E-4 39608 0


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
missense_variant PRLH ENST00000165524 c.97C>G p.Arg33Gly probably
downstream_gene_variant RNU6-1140P ENST00000410517 n.*3400C>G NA NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
0.00403988 NA 0.00167531 NA 0.00102145 NA NA


Carrier

Gender count:
10 Male
12 Female
0 Ambiguous
0 NA
Ethnicity count:
3 African
4 Caucasian
0 EastAsian
0 Hispanic
0 MiddleEastern
15 SouthAsian
0 NA

Public Available Gender Phenotype Ethnicity GT DP GQ FILTER
Yes F brain malformation SouthAsian HET 29 99 PASS
Yes F kidney and urological disease African HET 61 99 PASS
Yes F epilepsy SouthAsian HET 66 99 PASS
Yes M control SouthAsian HET 36 99 PASS
Yes M kidney and urological disease SouthAsian HET 68 99 PASS
Yes M congenital disorder SouthAsian HET 56 99 PASS
Yes F kidney and urological disease SouthAsian HET 65 99 PASS
Yes M healthy family member SouthAsian HET 25 99 PASS
Yes F kidney and urological disease SouthAsian HET 25 99 PASS
Yes M kidney and urological disease SouthAsian HET 66 99 PASS
Yes M kidney and urological disease SouthAsian HET 27 99 PASS
Yes M amyotrophic lateral sclerosis Caucasian HET 54 99 PASS
Yes F healthy family member African HET 130 99 PASS
Yes F epilepsy African HET 101 99 PASS
Yes F obsessive compulsive disorder Caucasian HET 35 99 PASS
Yes F healthy family member Caucasian HET 33 99 PASS
Yes M healthy family member Caucasian HET 54 99 PASS
Yes F healthy family member SouthAsian HET 48 99 PASS
Yes F healthy family member SouthAsian HET 42 99 PASS
Yes F epilepsy SouthAsian HET 24 99 PASS
Yes M kidney and urological disease SouthAsian HET 61 99 PASS
Yes M healthy family member SouthAsian HET 50 99 PASS