RGD:13462479 Rat Genome Database

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Variant: RGD:13462479 -  Homo sapiens

RGD ID: 13462479
RS ID: rs774726585
ClinVar ID: CV438905
Genic Status: GENIC
Type: deletion (SO:0000159) 
Associated Genes: LOC127404709  NKX2-5  
Reference Nucleotide: AT
Variant Nucleotide: --
Position
Assembly Chr Position
GRCh37 5 172,660,522 - 172,660,524
GRCh38 5 173,233,519 - 173,233,521
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001166175.2:c.335-19_335-18del
NM_004387.4:c.335-311_335-310del
NM_001166176.2:c.335-56_335-55del
NG_013340.1:g.6793_6794del
More... 		08/10/2019 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:NKX2-5
Accession:XM_017009071
Location:3UTRS;EXON

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

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000514236 CLINVAR
dbSNP (RS) rs774726585 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene NKX2-5 CLINVAR
OMIM 600584 CLINVAR