Annotation
Position
chr2 : 204062043
Genotype
T/C
Gene
HGVS DNA code
HGVS=NBEAL1:NM_001114132:exon47:c.6970C>T:p.P2324S,
HGVS protein code
Author:
GeneTalk
dbSNP Flags:
- SNP is Clinical (LSDB,OMIM,TPA,Diagnostic)
- SNP is Precious (Clinical,Pubmed Cited)
- Links exist to PubMed Central article
- Is Assembly specific. (This bit is 1 if the snp only maps to one assembly.)
- 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 Precious (Clinical,Pubmed Cited)
- Links exist to PubMed Central article
- Is Assembly specific. (This bit is 1 if the snp only maps to one assembly.)
- 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 13:44, Last update March 09, 2013 13:44
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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