Annotation

Position
chr1 : 197104298
Genotype
C/T
Gene
ASPM   (Entrez-ID: 259266)

HGVS DNA code
NM_018136.4.c.2101C>T
HGVS protein code
NP_060606.3.p.Q701X
Link
OMIM-ID
605481
Pubmed Links
Pubmed Article 19808985
MutationTaster

Author:
GeneTalk
Text:
Primary microcephaly
Created at December 01, 2011 04:07, Last update December 01, 2011 04:07
Voting
Pathogenic
Clinical significance
Pathogenic
Votes
StarsClinical significance
53 votes
40 votes
30 votes
20 votes
10 votes

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