LOVD - Variant listings for TNFRSF10A

About this overview [Show]

1 public entry
entries per page

Path. Hide Path. column Descending
Ascending

External ID Hide External ID column Descending
Ascending

Exon Hide Exon column Descending
Ascending

DNA change   Descending
Ascending

Type Hide Type column Descending
Ascending

Mutation effect Hide Mutation effect column Descending
Ascending

Protein Hide Protein column Descending
Ascending

PolyPhen 2 Hide PolyPhen 2 column Descending
Ascending

Frequency Hide Frequency column Descending
Ascending

DB-ID Hide DB-ID column Descending
Ascending

Patient ID Hide Patient ID column Descending
Ascending

Disease Hide Disease column Descending
Ascending

Reference Hide Reference column Descending
Ascending

Template Hide Template column Descending
Ascending

Technique Hide Technique column Descending
Ascending

Frequency Hide Frequency column Descending
Ascending

Remarks Hide Remarks column Descending
Ascending
?/? dbSNP 1 c.306+5G>C Substitution Splice site - Not determined G=0.995/C=0.005 TNFRSF10A_00011 - - - - - -
1


Legend: [ TNFRSF10A full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Genomic Reference Sequence.
Path.: Variant pathogenicity, in the format Reported/Concluded; '+' indicating the variant is pathogenic, '+?' probably pathogenic, '-' no known pathogenicity, '-?' probably no pathogenicity, '?' effect unknown. External ID: Link(s) to variation databases. Exon: Exon numbering. DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. Type: Type of variant at DNA level. Mutation effect: Mutation effect at protein or RNA level. Protein: Variation at protein level. PolyPhen 2: PolyPhen 2 prediction of variant effect Frequency: Frequency if variant is non pathogenic. TNFRSF10A DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. Patient ID: Internal reference to the patient. Disease: Disease phenotype, as reported in paper/by submitter, unless modified by the curator. Reference: Reference describing the patient, "Submitted:" indicating that the mutation was submitted directly to this database. Template: Variant detected in DNA, RNA and/or Protein. Technique: Technique used to detect the variation. Frequency: Frequency of polymorphism.