Variant: 21-33039686-G-C



Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
21-33039686-G-C p.Val119Leu missense+splice_region SOD1 1 9314 1.0736526E-4 4657 0 3.97655E-6


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
missense+splice_region SOD1 ENST00000270142 c.355G>C p.Val119Leu NA
missense+splice_region SOD1 ENST00000389995 c.298G>C p.Val100Leu NA
missense SOD1 ENST00000270142 c.355G>C p.Val119Leu probably
missense SOD1 ENST00000389995 c.298G>C p.Val100Leu probably
splice_region SOD1 ENST00000270142 c.355G>C p.Val119Leu NA
splice_region SOD1 ENST00000389995 c.298G>C p.Val100Leu NA
splice_region SOD1 ENST00000470944 n.1283G>C NA NA
downstream_gene SCAF4 ENST00000286835 c.*4026C>G NA NA
downstream_gene SCAF4 ENST00000399804 c.*4026C>G NA NA
downstream_gene SCAF4 ENST00000434667 c.*4026C>G NA NA
downstream_gene SNORA81 ENST00000458922 n.*2891G>C NA NA
downstream_gene SOD1 ENST00000476106 n.*32G>C NA NA
non_coding_transcript_exon SOD1 ENST00000470944 n.1283G>C NA NA
upstream_gene AP000254.8 ENST00000609934 n.-126C>G NA NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
NA NA 3.97655E-6 NA NA NA NA


Carrier

Gender count:
Ancestry count:

Public Available Gender Phenotype Ancestry GT DP Percent Alt Read GQ FILTER
Yes M amyotrophic lateral sclerosis Caucasian HET 76 0.57894737 99 PASS