Annotation

Position
chr1 : 197112810
Genotype
G/A
Gene
ASPM

HGVS DNA code
NM_001206846.1:c.572C>T
HGVS protein code
OMIM-ID
605481
Pubmed Links
Pubmed Article 24493721
MutationTaster

Author:
ClinVar  
Text:
-
Created at August 08, 2015 13:06, Last update August 08, 2015 13:06
Voting
Pathogenic
Clinical significance
Pathogenic
Votes
StarsClinical significance
53 votes
40 votes
30 votes
20 votes
10 votes

Comments


Back