RGD:11350539 Rat Genome Database

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Variant: RGD:11350539 -  Homo sapiens

RGD ID: 11350539
RS ID: rs876661380
ClinVar ID: CV236767
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NKX2-5  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 5 172,661,752
GRCh38 5 173,234,749
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_013340.1:g.5564G>T
NC_000005.10:g.173234749C>A
NC_000005.9:g.172661752C>A
NM_001166175.2:c.334+1G>T
More... 		10/19/2011 splice donor variant pathogenic|uncertain significance none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NKX2-5
Accession:NM_004387
Location:INTRON

Gene Symbol:NKX2-5
Accession:NM_001166176
Location:INTRON

Gene Symbol:NKX2-5
Accession:NM_001166175
Location:INTRON

Gene Symbol:NKX2-5
Accession:XM_017009071
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:10587520  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000009571 CLINVAR
  RCV000223896 CLINVAR
dbSNP (RS) rs876661380 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene NKX2-5 CLINVAR
OMIM 600584 CLINVAR
OMIM Allele 600584.0005 CLINVAR