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Annotation

Position
chr12 : 2774833
Genotype
T/C
Gene

HGVS DNA code
HGVS=CACNA1C:NM_001129831:exon37:c.4569T>C:p.D1523D,CACNA1C:NM_000719:exon36:c.4485T>C:p.D1495D,CACNA1C:NM_001129842:exon36:c.4485T>C:p.D1495D,CACNA1C:NM_001129835:exon36:c.4485T>C:p.D1495D,CACNA1C:NM_001129830:exon36:c.4485T>C:p.D1495D,CACNA1C:NM_0011298
HGVS protein code
Link
OMIM-ID
Pubmed Links
MutationTaster

Author:
GeneTalk
dbSNP Flags:
- Has SubmitterLinkOut (From SNP->SubSNP->Batch.link_out)
- SNP is Precious (Clinical,Pubmed Cited)
- Provisional Third Party Annotation(TPA)(currently rs from PHARMGKB who will give pheotype data).
- Links exist to PubMed Central article
- 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.)
- >5% minor allele frequency in 1+ populations
- Marker is on high density genotyping kit (50K density or greater). The snp may have phenotype associations present in dbGaP.
- 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).
- Single base polymorphism SNP

Created at March 09, 2013 16:33, Last update January 26, 2015 23:07
Voting
Clinical significance
Likely benign
Votes
StarsClinical significance
50 votes
40 votes
30 votes
23 votes
10 votes

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