Annotation
Position
chr1 : 197060077
Genotype
T/G
Gene
HGVS DNA code
HGVS=ASPM:NM_001206846:exon22:c.4784A>C:p.Q1595P,ASPM:NM_018136:exon23:c.9539A>C:p.Q3180P,
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)
- Is Assembly specific. (This bit is 1 if the snp only maps to one assembly.)
- Weight=1. (Weight on NCBI reference assembly.)
- 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).
- 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)
- Is Assembly specific. (This bit is 1 if the snp only maps to one assembly.)
- Weight=1. (Weight on NCBI reference assembly.)
- 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).
- Submitted from a locus-specific database.
- Has OMIM/OMIA
- Single base polymorphism SNP
Created at March 09, 2013 13:08, 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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