Variant: 21-33038791-C-T



Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
21-33038791-C-T p.Pro67Ser missense SOD1 1 9278 1.0778185E-4 4639 0 3.98422E-6


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
missense SOD1 ENST00000270142 c.199C>T p.Pro67Ser probably
missense SOD1 ENST00000389995 c.142C>T p.Pro48Ser probably
downstream_gene SCAF4 ENST00000286835 c.*4921G>A NA NA
downstream_gene SCAF4 ENST00000399804 c.*4921G>A NA NA
downstream_gene SCAF4 ENST00000434667 c.*4921G>A NA NA
downstream_gene SNORA81 ENST00000458922 n.*1996C>T NA NA
downstream_gene AP000254.8 ENST00000609934 n.*250G>A NA NA
non_coding_transcript_exon SOD1 ENST00000470944 n.1127C>T NA NA
non_coding_transcript_exon SOD1 ENST00000476106 n.462C>T NA NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
NA NA 3.98422E-6 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 31 0.48387095 99 PASS