Variant: 21-33039600-C-T



Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
21-33039600-C-T p.Ala90Val missense SOD1 4 9322 4.2909247E-4 4661 0 1.19294E-5


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
missense SOD1 ENST00000270142 c.269C>T p.Ala90Val probably
missense SOD1 ENST00000389995 c.212C>T p.Ala71Val probably
downstream_gene SCAF4 ENST00000286835 c.*4112G>A NA NA
downstream_gene SCAF4 ENST00000399804 c.*4112G>A NA NA
downstream_gene SCAF4 ENST00000434667 c.*4112G>A NA NA
downstream_gene SNORA81 ENST00000458922 n.*2805C>T NA NA
non_coding_transcript_exon SOD1 ENST00000470944 n.1197C>T NA NA
non_coding_transcript_exon SOD1 ENST00000476106 n.532C>T NA NA
upstream_gene AP000254.8 ENST00000609934 n.-40G>A NA NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
NA NA 1.19294E-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 48 0.45833334 99 PASS
Yes F amyotrophic lateral sclerosis Caucasian HET 76 0.5 99 PASS
Yes M amyotrophic lateral sclerosis Caucasian HET 25 0.48 99 PASS
Yes M amyotrophic lateral sclerosis Caucasian HET 45 0.4 99 PASS