Variant #0000115875 (NC_000004.11:g.52904425T>C, SGCB(NM_000232.4):c.1A>G)

Individual ID 00072175
Chromosome 4
Allele Both (homozygous)
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 Met1?
ISCN -
DB-ID SGCB_000091 See all 2 reported entries
Variant remarks -
Reference PubMed: Semplicini 2015, Journal: Semplicini 2015
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Jamie Zeegers
Database submission license No license selected
Created by Jamie Zeegers
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

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



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000072328 DNA arrayCGH;IHC;SEQ-NG;Western - - SGCB 1 Jamie Zeegers