Variant: 2-238475376-G-C



Variant

Variant ID Effect Gene AC AN AF NS NHOM
2-238475376-G-C downstream_gene_variant RNU6-1140P 2 77364 2.5851818E-5 38682 0


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
downstream_gene_variant RNU6-1140P ENST00000410517 n.*3463G>C NA NA
intron_variant PRLH ENST00000165524 c.100+60G>C 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:
2 Male
0 Female
0 Ambiguous
0 NA
Ethnicity count:
0 African
0 Caucasian
0 EastAsian
2 Hispanic
0 MiddleEastern
0 SouthAsian
0 NA

Public Available Gender Phenotype Ethnicity GT DP GQ FILTER
Yes M healthy family member Hispanic HET 30 99 PASS
Yes M congenital disorder Hispanic HET 26 99 LIKELY