Annotation
Position
chr12 : 2224511
Genotype
T/C
Gene
HGVS DNA code
HGVS=CACNA1C:NM_001129831:exon2:c.171C>T:p.D57D,CACNA1C:NM_000719:exon2:c.171C>T:p.D57D,CACNA1C:NM_001129842:exon2:c.171C>T:p.D57D,CACNA1C:NM_001129835:exon2:c.171C>T:p.D57D,CACNA1C:NM_001129830:exon2:c.171C>T:p.D57D,CACNA1C:NM_001129829:exon2:c.171C>T:p.
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)
- Provisional Third Party Annotation(TPA)(currently rs from PHARMGKB who will give pheotype data).
- Has reference (A coding region variation where one allele in the set is identical to the reference sequence. FxnCode = 8)
- Has synonymous (A coding region variation where one allele in the set does not change the encoded amino acid. FxnCode = 3)
- Is Assembly specific. (This bit is 1 if the snp only maps to one assembly.)
- Weight=1. (Weight on NCBI reference assembly.)
- Is Validated. (The snp has 2+ minor allele count based on frequency or genotype data.)
- Genotypes available. The snp has individual genotype (in SubInd table).
- 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.
- Single base polymorphism SNP
- SNP is Clinical (LSDB,OMIM,TPA,Diagnostic)
- SNP is Precious (Clinical,Pubmed Cited)
- Provisional Third Party Annotation(TPA)(currently rs from PHARMGKB who will give pheotype data).
- Has reference (A coding region variation where one allele in the set is identical to the reference sequence. FxnCode = 8)
- Has synonymous (A coding region variation where one allele in the set does not change the encoded amino acid. FxnCode = 3)
- Is Assembly specific. (This bit is 1 if the snp only maps to one assembly.)
- Weight=1. (Weight on NCBI reference assembly.)
- Is Validated. (The snp has 2+ minor allele count based on frequency or genotype data.)
- Genotypes available. The snp has individual genotype (in SubInd table).
- 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.
- Single base polymorphism SNP
Created at March 09, 2013 16:33, Last update January 26, 2015 23:07
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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