RGD:10766596 Rat Genome Database

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Variant: RGD:10766596 -  Homo sapiens

RGD ID: 10766596
RS ID: rs864321647
ClinVar ID: CV217187
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NKX2-5  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 5 172,660,232
GRCh38 5 173,233,229
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Prevalence Trait Synonyms
NG_013340.1:g.7084G>A
NC_000005.10:g.173233229C>T
NC_000005.9:g.172660232C>T
NM_001166176.2:c.*114G>A
More... 		11/02/2012 3 prime utr variant uncertain significance 5-8/1000 live births
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NKX2-5
Accession:NM_001166175
Location:3UTRS;EXON

Gene Symbol:NKX2-5
Accession:NM_001166176
Location:3UTRS;EXON

Gene Symbol:NKX2-5
Accession:NM_004387
Location:INTRON

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000203544 CLINVAR
dbSNP (RS) rs864321647 CLINVAR
MedGen C0152021 CLINVAR
NCBI Gene NKX2-5 CLINVAR
OMIM 600584 CLINVAR
SNOMED CT 13213009 CLINVAR