Annotation
Position
chr1 : 197070108
Genotype
T/A
Gene
HGVS DNA code
HGVS=ASPM:NM_018136:exon18:c.8273T>A:p.L2758X,
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)
- In Intron (FxnCode = 6)
- Has STOP-Gain (A coding region variation where one allele in the set changes to STOP codon (TER). FxnClass = 41)
- 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
- SNP is Clinical (LSDB,OMIM,TPA,Diagnostic)
- SNP is Precious (Clinical,Pubmed Cited)
- In Intron (FxnCode = 6)
- Has STOP-Gain (A coding region variation where one allele in the set changes to STOP codon (TER). FxnClass = 41)
- 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
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