Annotation

Position
chr1 : 197070154
Genotype
G/A
Gene
ASPM

HGVS DNA code
NM_018136:exon18:c.8227C>T:
HGVS protein code
p.R2743X
Link
OMIM-ID
Pubmed Links
Pubmed Article 24691052
MutationTaster

Author:
vh  
Text:
Compound heterozygous position together with a frameshift deletion in the same gene at position chr1:197070605
Created at June 11, 2014 11:10, Last update June 11, 2014 11:10
Voting
Pathogenic
Clinical significance
Pathogenic
Votes
StarsClinical significance
53 votes
40 votes
30 votes
20 votes
10 votes

Comments


Back