LOVD - Variant listings for TNFRSF10A

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Patient data (#0000128)
Patient ID
Disease Breast cancer
Reference Frank et al., 2005
Template DNA
Technique PCR
Frequency -
Remarks Individually, variations 626C>G and 683A>C do not appear to be associated with an increase in breast cancer risk. However, the rare haplotype 626C-683C does appear to contribute to an increased risk to breast cancer.

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
External ID dbSNP
Exon 5
DNA change c.683A>C   (View in UCSC Genome Browser, Ensembl)
Type Substitution
Mutation effect Missense
Protein p.(Glu228Ala)
PolyPhen 2 Possibly damaging
Frequency -
DB-ID TNFRSF10A_00005

2 entries in TNFRSF10A

Path.
Allele Descending
Ascending
External ID Descending
Ascending
Exon Descending
Ascending
DNA change Descending
Ascending
Type Descending
Ascending
Mutation effect Descending
Ascending
Protein Descending
Ascending
PolyPhen 2 Descending
Ascending
Frequency Descending
Ascending
DB-ID Descending
Ascending
?/? Unknown dbSNP 4 c.626G>C Substitution Missense p.(Arg209Thr) Benign - TNFRSF10A_00003
?/? Unknown dbSNP 5 c.683A>C Substitution Missense p.(Glu228Ala) Possibly damaging - TNFRSF10A_00005