Annotation
Position
chr15 : 73617719
Genotype
T/C
Gene
HGVS DNA code
HGVS=HCN4:NM_005477:exon5:c.1657G>A:p.D553N,
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)
- 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)
- 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 17:21, Last update March 09, 2013 17:21
Voting
Clinical significance
Pathogenic
Votes
| Stars | Clinical significance |
|---|---|
| 5 | 3 votes |
| 4 | 0 votes |
| 3 | 0 votes |
| 2 | 0 votes |
| 1 | 0 votes |
Comments
Back