Variant: 21-33032146-G-C



Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
21-33032146-G-C p.Glu22Gln missense SOD1 1 9164 1.0912265E-4 4582 0 NA


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
missense SOD1 ENST00000270142 c.64G>C p.Glu22Gln benign
intron SOD1 ENST00000389995 c.15+49G>C NA NA
non_coding_transcript_exon SOD1 ENST00000470944 n.125G>C NA NA
non_coding_transcript_exon SOD1 ENST00000476106 n.141G>C NA NA
upstream_gene AP000253.1 ENST00000449339 n.-333C>G NA NA
upstream_gene SNORA81 ENST00000458922 n.-4473G>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:
Ancestry count:

Public Available Gender Phenotype Ancestry GT DP Percent Alt Read GQ FILTER
Yes F amyotrophic lateral sclerosis Caucasian HET 13 0.30769232 83 PASS