Annotation
Position
chr7 : 148526844
Genotype
CATA/C
Gene
HGVS DNA code
HGVS=EZH2:NM_004456:exon5:c.457_459del:p.153_153del,EZH2:NM_001203247:exon5:c.457_459del:p.153_153del,EZH2:NM_152998:exon4:c.340_342del:p.114_114del,EZH2:NM_001203248:exon5:c.430_432del:p.144_144del,EZH2:NM_001203249:exon5:c.430_432del:p.144_144del,
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
- Has reference (A coding region variation where one allele in the set is identical to the reference sequence. FxnCode = 8)
- 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.
- Has OMIM/OMIA
- dips (deletion/insertion)
- Single base polymorphism SNP
- SNP is Precious (Clinical,Pubmed Cited)
- 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)
- 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.
- Has OMIM/OMIA
- dips (deletion/insertion)
- Single base polymorphism SNP
Created at March 09, 2013 15:27, Last update March 09, 2013 15:27
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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