Annotation

Position
chr1 : 197094030
Genotype
T/C
Gene

HGVS DNA code
HGVS=ASPM:NM_001206846:exon12:c.3138G>A:p.R1046R,ASPM:NM_018136:exon12:c.3138G>A:p.R1046R,
HGVS protein code
Link
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)
- Has reference (A coding region variation where one allele in the set is identical to the reference sequence. FxnCode = 8)
- 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.)
- Is Validated. (The snp has 2+ minor allele count based on frequency or genotype data.)
- >5% minor allele frequency in 1+ populations
- Marker is on high density genotyping kit (50K density or greater). The snp may have phenotype associations present in dbGaP.
- Genotypes available. The snp has individual genotype (in SubInd table).
- 1000 Genome Phase 1 ( include June Interim phase 1)
- Submitted from a locus-specific database.
- Single base polymorphism SNP

Created at March 09, 2013 13:09, Last update January 26, 2015 22:23
Voting
Clinical significance
Likely benign
Votes
StarsClinical significance
50 votes
40 votes
30 votes
23 votes
10 votes

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