Variant: 21-33038766-T-C



Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
21-33038766-T-C p.Cys58Cys synonymous SOD1 1 9248 1.0813149E-4 4624 0 3.99084E-6


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
synonymous SOD1 ENST00000270142 c.174T>C p.Cys58Cys NA
synonymous SOD1 ENST00000389995 c.117T>C p.Cys39Cys NA
downstream_gene SCAF4 ENST00000286835 c.*4946A>G NA NA
downstream_gene SCAF4 ENST00000399804 c.*4946A>G NA NA
downstream_gene SCAF4 ENST00000434667 c.*4946A>G NA NA
downstream_gene SNORA81 ENST00000458922 n.*1971T>C NA NA
downstream_gene AP000254.8 ENST00000609934 n.*275A>G NA NA
non_coding_transcript_exon SOD1 ENST00000470944 n.1102T>C NA NA
non_coding_transcript_exon SOD1 ENST00000476106 n.437T>C NA NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
NA NA 3.99084E-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 33 0.45454547 99 PASS