Variant: 2-238475389-G-C



Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
2-238475389-G-C n.*3476G>C downstream_gene RNU6-1140P 2 78420 2.5503698E-5 39210 0 3.18552E-5


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
downstream_gene RNU6-1140P ENST00000410517 n.*3476G>C NA NA
intron PRLH ENST00000165524 c.100+73G>C NA NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
NA NA NA 3.18552E-5 NA NA NA


Carrier

Gender count:
Ancestry count:

Public Available Gender Phenotype Ancestry GT DP Percent Alt Read GQ FILTER
Yes F control African HET 18 0.6111111 99 LIKELY
Yes F other neurological disease Hispanic HET 15 0.6666667 99 PASS