Annotation
Position
chr7 : 148506432
Genotype
G/A
Gene
HGVS DNA code
HGVS=EZH2:NM_004456:exon18:c.2080C>T:p.H694Y,EZH2:NM_001203247:exon18:c.2065C>T:p.H689Y,EZH2:NM_152998:exon17:c.1948C>T:p.H650Y,EZH2:NM_001203248:exon18:c.2038C>T:p.H680Y,EZH2:NM_001203249:exon17:c.1912C>T:p.H638Y,
HGVS protein code
Author:
GeneTalk
dbSNP Flags:
- Has 3D structure (SNP3D table)
- SNP is Clinical (LSDB,OMIM,TPA,Diagnostic)
- SNP is Precious (Clinical,Pubmed Cited)
- Links exist to PubMed Central article
- 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
- Single base polymorphism SNP
- SNP is Clinical (LSDB,OMIM,TPA,Diagnostic)
- SNP is Precious (Clinical,Pubmed Cited)
- Links exist to PubMed Central article
- 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
- 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 |
Comments
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