Variant #0000653240 (NC_000004.11:g.52904396_52904400dup, SGCB(NM_000232.4):c.29_33dup)

Individual ID 00295383
Chromosome 4
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.52904396_52904400dup
DNA change (hg38) g.52038230_52038234dup
Published as -
ISCN -
DB-ID SGCB_000140
Variant remarks 2 heterozygous, no homozygous; Clinindb (India)
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID rs796065319
Origin Germline
Segregation -
Frequency 2/2785 individuals
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Mohammed Faruq
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SGCB NM_000232.4 ?/. - c.29_33dup r.(?) p.(Gln12Asnfs*9)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000296551 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq