Variant #0000223292 (NC_000004.11:g.52897559_52897616TG[11_29], SGCB(NM_000232.4):c.244-1587_244-1530CA[11_29])

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.52897559_52897616TG[11_29]
DNA change (hg38) g.52031393_52031450TG[11_29]
Published as -
ISCN -
DB-ID SGCB_000047
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID rs6148429
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Genomic location of variant could not be determined
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SGCB NM_000232.4 -/. 2i c.244-1587_244-1530CA[11_29] r.(=) p.(=)