Annotation
Position
chr1 : 197097777
Genotype
G/A
Gene
HGVS DNA code
HGVS=ASPM:NM_001206846:exon10:c.2779T>C:p.L927L,ASPM:NM_018136:exon10:c.2779T>C:p.L927L,
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)
- 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)
- Weight=1. (Weight on NCBI reference assembly.)
- RS Cluster has none TGP Submission(set VCF OTHERKG).
- Submitted from a locus-specific database.
- Single base polymorphism SNP
- 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)
- Weight=1. (Weight on NCBI reference assembly.)
- RS Cluster has none TGP Submission(set VCF OTHERKG).
- Submitted from a locus-specific database.
- Single base polymorphism SNP
Created at March 09, 2013 13:09, Last update March 09, 2013 13:09
Voting
Clinical significance
Pathogenic
Votes
| Stars | Clinical significance |
|---|---|
| 5 | 3 votes |
| 4 | 0 votes |
| 3 | 0 votes |
| 2 | 0 votes |
| 1 | 0 votes |
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