LOVD - Variant listings for TNFRSF10B

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Patient data (#0000121)
Patient ID
Disease -
Reference -
Template -
Technique -
Frequency -
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
Exon 8
DNA change c.793C>G   (View in UCSC Genome Browser, Ensembl)
External ID NHLBI Exome Sequencing Project
Type Substitution
Mutation effect Missense
Protein p.(Pro265Ala)
PolyPhen 2 Probably damaging
Frequency G=1/C=10757
DB-ID TNFRSF10B_00049

1 entry in TNFRSF10B

Path.
Allele Descending
Ascending
Exon Descending
Ascending
DNA change Descending
Ascending
External ID Descending
Ascending
Type Descending
Ascending
Mutation effect Descending
Ascending
Protein Descending
Ascending
PolyPhen 2 Descending
Ascending
Frequency Descending
Ascending
DB-ID Descending
Ascending
?/? Unknown 8 c.793C>G NHLBI Exome Sequencing Project Substitution Missense p.(Pro265Ala) Probably damaging G=1/C=10757 TNFRSF10B_00049