LOVD - Variant listings for TNFRSF10A

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Patient data (#0000175)
Patient ID
Disease -
Reference Wolf et al., 2006
Template DNA, RNA
Technique PCR, RT-PCR
Frequency -
Remarks 101 chronic lymphocytic leukemia, 32 mantle cell lymphoma, 43 prostate cancer, 40 head and neck squamous cell carcinoma and 179 bladder cancer samples were investigated for the presence of this variant. It appears that this variant is involved in the pathomechanism of a subset of these cancer types.

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

1 entry 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 5 c.683A>C Substitution Missense p.(Glu228Ala) Possibly damaging - TNFRSF10A_00005