Variant: 21-33040861-G-C



Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
21-33040861-G-C p.Leu145Phe missense SOD1 4 83296 4.8021513E-5 41648 0 1.59177E-5


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
missense SOD1 ENST00000270142 c.435G>C p.Leu145Phe probably
missense SOD1 ENST00000389995 c.378G>C p.Leu126Phe probably
downstream_gene SCAF4 ENST00000286835 c.*2851C>G NA NA
downstream_gene SCAF4 ENST00000399804 c.*2851C>G NA NA
downstream_gene SCAF4 ENST00000434667 c.*2851C>G NA NA
downstream_gene SNORA81 ENST00000458922 n.*4066G>C NA NA
downstream_gene SOD1 ENST00000476106 n.*1207G>C NA NA
non_coding_transcript_exon SOD1 ENST00000470944 n.1363G>C NA NA
upstream_gene AP000254.8 ENST00000609934 n.-1301C>G NA NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
NA NA 1.59177E-5 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 44 0.3181818 99 PASS
Yes M amyotrophic lateral sclerosis Caucasian HET 31 0.48387095 99 LIKELY
Yes M amyotrophic lateral sclerosis Caucasian HET 23 0.26086956 99 PASS
Yes F amyotrophic lateral sclerosis Caucasian HET 23 0.47826087 99 PASS