Variant #0000863681 (NC_000014.8:g.76437556C>T, NM_003239.2:c.559G>A (TGFB3))

Chromosome 14
Allele Unknown
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.76437556C>T
DNA change (hg38) -
Published as TGFB3(NM_003239.2):c.559G>A (p.(Gly187Ser)), TGFB3(NM_003239.5):c.559G>A (p.G187S)
ISCN -
DB-ID TGFB3_000056 See all 3 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 4.0E-5 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Date created 2022-05-09 15:51:19 +02:00 (CEST)
Date last edited 2023-01-11 15:44:22 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
TGFB3 NM_003239.2 ?/. - c.559G>A r.(?) p.(Gly187Ser) -


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