Annotation
Position
chr1 : 197070707
Genotype
G/A,T
Gene
HGVS DNA code
HGVS=ASPM:NM_018136:exon18:c.7674C>T:p.I2558I,
HGVS protein code
Author:
GeneTalk
dbSNP Flags:
- Has 3D structure (SNP3D table)
- 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 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
- 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
- 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 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
- 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
Stars | Clinical significance |
---|---|
5 | 0 votes |
4 | 0 votes |
3 | 0 votes |
2 | 3 votes |
1 | 0 votes |
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