Annotation
Position
chr7 : 148525904
Genotype
G/C
Gene
HGVS DNA code
HGVS=EZH2:NM_004456:exon6:c.553G>C:p.D185H,EZH2:NM_001203247:exon6:c.553G>C:p.D185H,EZH2:NM_152998:exon5:c.436G>C:p.D146H,EZH2:NM_001203248:exon6:c.526G>C:p.D176H,EZH2:NM_001203249:exon6:c.526G>C:p.D176H,
HGVS protein code
Author:
GeneTalk
dbSNP Flags:
- Has SubmitterLinkOut (From SNP->SubSNP->Batch.link_out)
- 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.)
- 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)
- Single base polymorphism SNP
- 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.)
- 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)
- Single base polymorphism SNP
Created at March 09, 2013 15:27, Last update January 26, 2015 22:55
Voting
Clinical significance
Likely benign
Votes
| Stars | Clinical significance |
|---|---|
| 5 | 0 votes |
| 4 | 0 votes |
| 3 | 0 votes |
| 2 | 3 votes |
| 1 | 0 votes |
Comments
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