Annotation
Position
chr12 : 2787006
Genotype
C/T
Gene
HGVS DNA code
NM_001129827.1:c.5208C>T
HGVS protein code
Author:
Text:
The term `not provided` is registered in MedGen to support identification of submissions to ClinVar for which no condition was named when assessing the variant. `not provided` differs from `not specified`, which is used when a variant is asserted to be benign, likely benign, or of uncertain significance for conditions that have not been specified.
Created at August 08, 2015 14:54, Last update August 08, 2015 14:54
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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