Variant: 21-33040874-A-G



Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
21-33040874-A-G p.Ile150Val missense SOD1 3 9108 3.2938077E-4 4554 0 1.59182E-5


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
missense SOD1 ENST00000270142 c.448A>G p.Ile150Val benign
missense SOD1 ENST00000389995 c.391A>G p.Ile131Val benign
downstream_gene SCAF4 ENST00000286835 c.*2838T>C NA NA
downstream_gene SCAF4 ENST00000399804 c.*2838T>C NA NA
downstream_gene SCAF4 ENST00000434667 c.*2838T>C NA NA
downstream_gene SNORA81 ENST00000458922 n.*4079A>G NA NA
downstream_gene SOD1 ENST00000476106 n.*1220A>G NA NA
non_coding_transcript_exon SOD1 ENST00000470944 n.1376A>G NA NA
upstream_gene AP000254.8 ENST00000609934 n.-1314T>C NA NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
NA NA 1.59182E-5 NA NA NA NA


Carrier

Gender count:
Ancestry count:

Public Available Gender Phenotype Ancestry GT DP Percent Alt Read GQ FILTER
Yes F amyotrophic lateral sclerosis Caucasian HET 56 0.5 99 PASS
Yes F amyotrophic lateral sclerosis Caucasian HET 44 0.6363636 99 PASS
Yes F amyotrophic lateral sclerosis Caucasian HET 19 0.5263158 99 PASS