Annotation
Position
chr1 : 197062286
Genotype
G/A
Gene
HGVS DNA code
HGVS=ASPM:NM_001206846:exon20:c.4435C>T:p.R1479X,ASPM:NM_018136:exon21:c.9190C>T:p.R3064X,
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)
- Has STOP-Gain (A coding region variation where one allele in the set changes to STOP codon (TER). FxnClass = 41)
- Has reference (A coding region variation where one allele in the set is identical to the reference sequence. FxnCode = 8)
- Weight=1. (Weight on NCBI reference assembly.)
- RS Cluster has none TGP Submission(set VCF OTHERKG).
- Submitted from a locus-specific database.
- Has OMIM/OMIA
- 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)
- Has STOP-Gain (A coding region variation where one allele in the set changes to STOP codon (TER). FxnClass = 41)
- Has reference (A coding region variation where one allele in the set is identical to the reference sequence. FxnCode = 8)
- Weight=1. (Weight on NCBI reference assembly.)
- 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
Clinical significance
Pathogenic
Votes
| Stars | Clinical significance |
|---|---|
| 5 | 3 votes |
| 4 | 0 votes |
| 3 | 0 votes |
| 2 | 0 votes |
| 1 | 0 votes |
Comments
Back