Annotation

Position
chr9 : 21166123
Genotype
G/A
Gene

HGVS DNA code
HGVS=IFNA21:NM_002175:exon1:c.489C>T:p.A163A,
HGVS protein code
Link
OMIM-ID
Pubmed Links
MutationTaster

Author:
GeneTalk
dbSNP Flags:
- Has 3D structure (SNP3D table)
- Has SubmitterLinkOut (From SNP->SubSNP->Batch.link_out)
- 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)
- Has synonymous (A coding region variation where one allele in the set does not change the encoded amino acid. FxnCode = 3)
- Weight=1. (Weight on NCBI reference assembly.)
- RS Cluster has none TGP Submission(set VCF OTHERKG).
- Single base polymorphism SNP

Created at March 09, 2013 15:44, Last update March 09, 2013 15:44
Voting
Pathogenic
Clinical significance
Pathogenic
Votes
StarsClinical significance
53 votes
40 votes
30 votes
20 votes
10 votes

Comments


Back