Variant #0000171441 (NC_000008.10:g.23058220T>G, NM_003844.3:c.683A>C (TNFRSF10A))

Individual ID 00105390
Chromosome 8
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.23058220T>G
DNA change (hg38) g.23200707T>G
Published as -
ISCN -
DB-ID TNFRSF10A_000005 See all 6 reported entries
Variant remarks 659 colorectal cancer patients were sequenced for these two variants. Variant 683G>C did not appear to be associated with an increased colorectal cancer risk. The 683C-626C haplotype conferred a 2.4 fold colorectal cancer risk.
Reference PubMed: Frank 2006
ClinVar ID -
dbSNP ID rs20576
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.15189 View details
Owner Zoe Baily
Database submission license No license selected
Created by Zoe Baily
Date created 2012-04-26 15:18:20 +02:00 (CEST)
Date last edited 2017-06-23 12:26:32 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Predict-BioInf     
TNFRSF10A NM_003844.3 ?/? 5 c.683A>C r.(?) p.(Glu228Ala) Polyphen: possibly damaging



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000105862 DNA PCR - - TNFRSF10A 1 Zoe Baily


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