Variant #0000553111 (NC_000014.8:g.76452145G>C, NM_003239.2:c.-4909C>G (TGFB3))

Chromosome 14
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.76452145G>C
DNA change (hg38) g.75985802G>C
Published as IFT43(NM_001102564.1):c.16G>C (p.(Asp6His))
ISCN -
DB-ID IFT43_000008
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) 0.00045 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 2019-07-18 18:22:55 +02:00 (CEST)
Date last edited 2020-03-23 16:13:27 +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.-4909C>G r.(?) p.(=) -
IFT43 NM_052873.2 -?/. - c.16G>C r.(?) p.(Asp6His) -


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