Variant #0000441428 (NC_000014.8:g.76437456dup, NC_000014.8(NM_003239.2):c.646+14dup (TGFB3))

Chromosome 14
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.76437456dup
DNA change (hg38) g.75971113dup
Published as -
ISCN -
DB-ID TGFB3_000010
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID rs35763256
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Paul van der Zwaag
Database submission license No license selected
Created by Paul van der Zwaag
Date created 2009-02-25 10:13:34 +01:00 (CET)
Date last edited 2020-07-05 16:13:50 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
TGFB3 NM_003239.2 -/- 3i c.646+14dup r.(=) p.(=) -


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