Variant: 2-238475313-C-G



Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
2-238475313-C-G p.Arg33Gly missense PRLH 24 80990 2.9633287E-4 40495 0 0.00403988


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
missense PRLH ENST00000165524 c.97C>G p.Arg33Gly probably
downstream_gene 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 6.37227E-5 0.00102145 NA NA


Carrier

Gender count:
Ancestry count:

Public Available Gender Phenotype Ancestry GT DP Percent Alt Read GQ FILTER
Yes F brain malformation SouthAsian HET 29 0.44827586 99 PASS
Yes F kidney and urological disease African HET 61 0.5409836 99 PASS
Yes F epilepsy SouthAsian HET 66 0.3939394 99 PASS
Yes M control SouthAsian HET 36 0.5833333 99 PASS
Yes M kidney and urological disease SouthAsian HET 68 0.5147059 99 PASS
Yes M congenital disorder SouthAsian HET 56 0.42857143 99 PASS
Yes M fetal ultrasound anomaly SouthAsian HET 86 0.4883721 99 PASS
Yes F kidney and urological disease SouthAsian HET 65 0.30769232 99 PASS
Yes M healthy family member SouthAsian HET 25 0.36 99 PASS
Yes F kidney and urological disease SouthAsian HET 25 0.52 99 PASS
Yes M kidney and urological disease SouthAsian HET 66 0.4090909 99 PASS
Yes M kidney and urological disease SouthAsian HET 27 0.37037036 99 PASS
Yes M amyotrophic lateral sclerosis Caucasian HET 54 0.35185185 99 PASS
Yes F healthy family member African HET 130 0.50769234 99 PASS
Yes F epilepsy African HET 101 0.5148515 99 PASS
Yes F obsessive compulsive disorder Caucasian HET 35 0.54285717 99 PASS
Yes F healthy family member Caucasian HET 33 0.4848485 99 PASS
Yes F healthy family member SouthAsian HET 53 0.3773585 99 PASS
Yes M healthy family member Caucasian HET 54 0.5 99 PASS
Yes F healthy family member SouthAsian HET 48 0.5625 99 PASS
Yes F healthy family member SouthAsian HET 42 0.54761904 99 PASS
Yes F epilepsy SouthAsian HET 24 0.41666666 99 PASS
Yes M kidney and urological disease SouthAsian HET 61 0.55737704 99 PASS
Yes M healthy family member SouthAsian HET 50 0.5 99 PASS