Variant #0000224474 (NC_000004.11:g.52904395G>C, SGCB(NM_000232.4):c.31C>G)

Individual ID 00133639
Chromosome 4
Allele Both (homozygous)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.52904395G>C
DNA change (hg38) g.52038229G>C
Published as -
ISCN -
DB-ID SGCB_000009 See all 7 reported entries
Variant remarks Note that both variants have been reported as pathogenic by others (Duggan 1997 and Duclos 1998)
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00024 View details
Owner Tom Winder
Database submission license No license selected
Created by Tom Winder
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SGCB NM_000232.4 +?/. 1 c.31C>G r.(?) p.(Gln11Glu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000134476 DNA PCR;SEQ - - SGCA 2 Tom Winder