Variant #0000915441 (NC_000021.8:g.33044277_33044279del, NM_000454.4:c.*3386_*3388del (SOD1))

Chromosome 21
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.33044277_33044279del
DNA change (hg38) -
Published as SCAF4(NM_020706.2):c.2877_2879delACA (p.Q966del)
ISCN -
DB-ID SOD1_000029
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
Date created 2023-01-11 15:44:22 +01:00 (CET)
Date last edited N/A
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SOD1 NM_000454.4 -?/. - c.*3386_*3388del r.(=) p.(=)
SCAF4 NM_020706.2 -?/. - c.2877_2879del r.(?) p.(Gln966del)


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.