Variant: 2-238475322-T-C



Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
2-238475322-T-C c.100+6T>C splice_region PRLH 1 80034 1.249469E-5 40017 0 6.42294E-6


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
splice_region PRLH ENST00000165524 c.100+6T>C NA NA
downstream_gene RNU6-1140P ENST00000410517 n.*3409T>C NA NA
intron PRLH ENST00000165524 c.100+6T>C NA NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
NA NA 6.42294E-6 NA NA NA NA


Carrier

Gender count:
Ancestry count:

Public Available Gender Phenotype Ancestry GT DP Percent Alt Read GQ FILTER
Yes M healthy family member SouthAsian HET 52 0.53846157 99 PASS