Annotation
Position
chr7 : 148514960
Genotype
G/T
Gene
HGVS DNA code
NM_004456.4:c.1240+9C>A
HGVS protein code
Author:
Text:
The term `not specified` was created for use in ClinVar so that submitters can convey the concept that a variation is benign for an unspecified set of disorders. This usage was introduced in 2014 to replace AllHighlyPenetrant.
Created at August 08, 2015 12:56, Last update August 08, 2015 12:56
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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