Variant #0000465205 (NC_000004.11:g.52904395G>C, SGCB(NM_000232.4):c.31C>G)

Individual ID 00219789
Chromosome 4
Allele Both (homozygous)
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.52904395G>C
DNA change (hg38) g.52038229G>C
Published as -
ISCN -
DB-ID SGCB_000009 See all 7 reported entries
Variant remarks variant apparently homozygous
Reference PubMed: Nallamilli 2018
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 Madhuri Hegde
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 ?/. 1 c.31C>G r.(?) p.(Gln11Glu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000220860 DNA SEQ;SEQ-NG - targeted gene panel - 4 Madhuri Hegde