Annotation
Position
chr12 : 2614098
Genotype
G/A
Gene
HGVS DNA code
HGVS=CACNA1C:NM_001129831:exon8:c.1204G>A:p.G402S,CACNA1C:NM_000719:exon8:c.1204G>A:p.G402S,CACNA1C:NM_001129842:exon8:c.1204G>A:p.G402S,CACNA1C:NM_001129835:exon8:c.1204G>A:p.G402S,CACNA1C:NM_001129830:exon8:c.1204G>A:p.G402S,CACNA1C:NM_001129829:exon8:c
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)
- Links exist to PubMed Central article
- In Intron (FxnCode = 6)
- Has non-synonymous missense (A coding region variation where one allele in the set changes protein peptide. FxnClass = 42)
- 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)
- Links exist to PubMed Central article
- In Intron (FxnCode = 6)
- Has non-synonymous missense (A coding region variation where one allele in the set changes protein peptide. FxnClass = 42)
- 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 16:33, Last update March 09, 2013 16:33
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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