Annotation
Position
chr11 : 111957664
Genotype
C/A
Gene
HGVS DNA code
HGVS=SDHD:NM_003002:exon1:c.33C>A:p.C11X,
HGVS protein code
Author:
GeneTalk
dbSNP Flags:
- SNP is Clinical (LSDB,OMIM,TPA,Diagnostic)
- SNP is Precious (Clinical,Pubmed Cited)
- Has STOP-Gain (A coding region variation where one allele in the set changes to STOP codon (TER). FxnClass = 41)
- Has reference (A coding region variation where one allele in the set is identical to the reference sequence. FxnCode = 8)
- 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 Precious (Clinical,Pubmed Cited)
- Has STOP-Gain (A coding region variation where one allele in the set changes to STOP codon (TER). FxnClass = 41)
- Has reference (A coding region variation where one allele in the set is identical to the reference sequence. FxnCode = 8)
- 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 16:28, Last update March 09, 2013 16:28
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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