Annotation
Position
chr12 : 2694651
Genotype
C/T
Gene
HGVS DNA code
NM_001129830.2:c.2449C>T
HGVS protein code
Author:
Text:
The term `not specified` was created for use in ClinVar so that submitters can convey the concept that a variant is benign, likely benign, or of uncertain significance for an unspecified set of disorders. This usage was introduced in 2014 to replace AllHighlyPenetrant.
Created at August 08, 2015 14:40, Last update August 08, 2015 14:40
Voting
Clinical significance
Pathogenic
Votes
| Stars | Clinical significance |
|---|---|
| 5 | 3 votes |
| 4 | 0 votes |
| 3 | 0 votes |
| 2 | 0 votes |
| 1 | 0 votes |
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