Annotation
Position
chr1 : 197112445
Genotype
T/C
Gene
HGVS DNA code
HGVS=ASPM:NM_001206846:exon3:c.937A>G:p.I313V,ASPM:NM_018136:exon3:c.937A>G:p.I313V,
HGVS protein code
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)
- Is Assembly specific. (This bit is 1 if the snp only maps to one assembly.)
- Weight=1. (Weight on NCBI reference assembly.)
- Genotypes available. The snp has individual genotype (in SubInd table).
- 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).
- HapMap Phase 3 genotyped: filtered, non- redundant. (VCF: PH3)
- Submitted from a locus-specific database.
- Single base polymorphism SNP
- SNP is Clinical (LSDB,OMIM,TPA,Diagnostic)
- SNP is Precious (Clinical,Pubmed Cited)
- Is Assembly specific. (This bit is 1 if the snp only maps to one assembly.)
- Weight=1. (Weight on NCBI reference assembly.)
- Genotypes available. The snp has individual genotype (in SubInd table).
- 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).
- HapMap Phase 3 genotyped: filtered, non- redundant. (VCF: PH3)
- 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
| Stars | Clinical significance |
|---|---|
| 5 | 0 votes |
| 4 | 0 votes |
| 3 | 0 votes |
| 2 | 3 votes |
| 1 | 0 votes |
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