Annotation

Position
chr1 : 197070620
Genotype
C,G/A
Gene

HGVS DNA code
HGVS=ASPM:NM_018136:exon18:c.7761T>G:p.Y2587X,
HGVS protein code
OMIM-ID
Pubmed Links
MutationTaster

Author:
GeneTalk
dbSNP Flags:
- Has SubmitterLinkOut (From SNP->SubSNP->Batch.link_out)
- SNP is Clinical (LSDB,OMIM,TPA,Diagnostic)
- SNP is Precious (Clinical,Pubmed Cited)
- In Intron (FxnCode = 6)
- Has STOP-Gain (A coding region variation where one allele in the set changes to STOP codon (TER). FxnClass = 41)
- Has synonymous (A coding region variation where one allele in the set does not change the encoded amino acid. FxnCode = 3)
- Is Assembly specific. (This bit is 1 if the snp only maps to one assembly.)
- Weight=1. (Weight on NCBI reference assembly.)
- 1000 Genome Phase 1 ( include June Interim phase 1)
- RS Cluster has TGP Submission as of June 2011 (include all current RS from TGP): VCF - KGPROD
- RS Cluster has none TGP Submission(set VCF OTHERKG).
- Submitted from a locus-specific database.
- Has OMIM/OMIA
- Single base polymorphism SNP

Created at March 09, 2013 13:09, Last update March 09, 2013 13:09
Voting
Pathogenic
Clinical significance
Pathogenic
Votes
StarsClinical significance
53 votes
40 votes
30 votes
20 votes
10 votes

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