Variant: 2-238475318-T-C



Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
2-238475318-T-C c.100+2T>C splice_donor PRLH 21 80812 2.598624E-4 40406 0 0.0028979


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
splice_donor PRLH ENST00000165524 c.100+2T>C NA NA
downstream_gene RNU6-1140P ENST00000410517 n.*3405T>C NA NA
intron PRLH ENST00000165524 c.100+2T>C NA NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
0.0028979 NA 0.00111897 3.18552E-5 NA 6.25E-4 NA


Carrier

Gender count:
Ancestry count:

Public Available Gender Phenotype Ancestry GT DP Percent Alt Read GQ FILTER
Yes M kidney and urological disease Hispanic HET 19 0.57894737 99 PASS
Yes F healthy family member Hispanic HET 16 0.4375 99 PASS
Yes M kidney and urological disease SouthAsian HET 25 0.44 99 PASS
Yes M healthy family member SouthAsian HET 28 0.32142857 99 PASS
Yes F kidney and urological disease SouthAsian HET 36 0.5833333 99 PASS
Yes M kidney and urological disease Hispanic HET 19 0.47368422 99 PASS
Yes M healthy family member SouthAsian HET 57 0.40350878 99 PASS
Yes M epilepsy EastAsian HET 62 0.43548387 99 PASS
Yes F healthy family member African HET 29 0.5862069 99 PASS
Yes F healthy family member Caucasian HET 34 0.5 99 PASS
Yes F kidney and urological disease SouthAsian HET 52 0.44230768 99 PASS
Yes F healthy family member SouthAsian HET 36 0.3611111 99 PASS
Yes M kidney and urological disease SouthAsian HET 31 0.516129 99 PASS
Yes M healthy family member SouthAsian HET 75 0.5466667 99 PASS
Yes M kidney and urological disease African HET 29 0.4827586 99 PASS
Yes F epilepsy Caucasian HET 51 0.5882353 99 PASS
Yes M kidney and urological disease Hispanic HET 21 0.33333334 99 PASS
Yes M control SouthAsian HET 86 0.5116279 99 PASS
Yes F obsessive compulsive disorder SouthAsian HET 70 0.5285714 99 PASS
Yes F epilepsy SouthAsian HET 95 0.43157893 99 PASS
Yes M kidney and urological disease MiddleEastern HET 19 0.42105263 99 PASS