Annotation

Position
chr1 : 197070605
Genotype
CTTTT/C
Gene
ASPM

HGVS DNA code
NM_018136:exon18:c.7772_7775del:
HGVS protein code
p.2591_2592del
Link
OMIM-ID
Pubmed Links
Pubmed Article 24691052
MutationTaster

Author:
vh  
Text:
Compound heterozygous position together with a stopgain mutation in the same gene at position chr1: 197070154
Created at June 11, 2014 11:12, Last update June 11, 2014 11:12
Voting
Pathogenic
Clinical significance
Pathogenic
Votes
StarsClinical significance
53 votes
40 votes
30 votes
20 votes
10 votes

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