Variant #0000223280 (NC_000004.11:g.52904614C>A, SGCB(NM_000232.4):c.-189G>T)

Chromosome 4
Allele Parent #1
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.52904614C>A
DNA change (hg38) g.52038448C>A
Published as -
ISCN -
DB-ID SGCB_000040
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID rs10434429
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SGCB NM_000232.4 -/. 1 c.-189G>T r.(?) p.(=)