Variant #0000790026 (NC_000004.11:g.52904425T>C, NM_000232.4:c.1A>G (SGCB))

Individual ID 00376416
Chromosome 4
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.52904425T>C
DNA change (hg38) g.52038259T>C
Published as -
ISCN -
DB-ID SGCB_000091 See all 2 reported entries
Variant remarks ACMG PVS1 PS4-M PM2 PP3 PP5; no genotypes reported
Reference PubMed: Nguyen 2021
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2021-06-22 13:15:11 +02:00 (CEST)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SGCB NM_000232.4 +/. - c.1A>G r.(?) p.(Met1?)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000377621 DNA SEQ-NG - 58-gene panel SGCB 1 Johan den Dunnen


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