Variant: 2-238475433-G-A



Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
2-238475433-G-A n.*3520G>A downstream_gene RNU6-1140P 2 74282 2.6924423E-5 37141 0 NA


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
downstream_gene RNU6-1140P ENST00000410517 n.*3520G>A NA NA
intron PRLH ENST00000165524 c.100+117G>A NA NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
NA NA NA NA NA NA NA


Carrier

Gender count:
Ancestry count:

Public Available Gender Phenotype Ancestry GT DP Percent Alt Read GQ FILTER
Yes M kidney and urological disease Caucasian HET 18 0.44444445 99 PASS
Yes M healthy family member Caucasian HET 31 0.516129 99 PASS