RGD:9589242 Rat Genome Database

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Variant: RGD:9589242 -  Homo sapiens

RGD ID: 9589242
RS ID: rs587782931
ClinVar ID: CV165960
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127404708  NKX2-5  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 5 172,659,738
GRCh38 5 173,232,735
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.7578G>A
NC_000005.10:g.173232735C>T
NC_000005.9:g.172659738C>T
NP_004378.1:p.Cys270Tyr
More... 		10/08/2018 3 prime utr variant|missense variant likely benign|uncertain significance ASD WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS; ATRIAL SEPTAL DEFECT 7 WITH ATRIOVENTRICULAR CONDUCTION DEFECTS; Atrial septal defect 7 with or without atrioventricular conduction defects; ATRIAL SEPTAL DEFECT 7 WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS; Atrial septal defect with atrioventricular conduction defects; Atrial septal defect with atrioventricular conduction defects, somatic; Atrial septal defect-atrioventricular conduction defects syndrome; none provided; Single ventricular heart; small Atrial septal defect
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

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

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

Gene Symbol:NKX2-5
Accession:NM_004387
Location:EXON
Amino Acid Prediction: C to Y (nonsynonymous)
Amino Acid Position: 270
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFPSPALTPTPFSVKDILNLEQQQRSLAAAGELSARLEATLAPSSCMLAAFKPEAYAGPEAAAPGLPELRAELGRAPSPA
KCASAFPAAPAFYPRAYSDPDPAKDPRAEKKELCALQKAVELEKTEADNAERPRARRRRKPRVLFSQAQVYELERRFKQQ
RYLSAPERDQLASVLKLTSTQVKIWFQNRRYKCKRQRQDQTLELVGLPPPPPPPARRIAVPVLVRDGKPCLGDSAPYAPA
YGVGLNPYGYNAYPAYPGYGGAACSPGYSYTAAYPAGPSPAQPATAAANNNFVNFGVGDLNAVQSPGIPQSNSGVSTLHG
IRAW*

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

Variant Samples
Additional References at PubMed
PMID:19948535   PMID:23285148   PMID:25742962   PMID:28492532   PMID:29037160   PMID:30611920  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000144179 CLINVAR
  RCV000617639 CLINVAR
  RCV000644453 CLINVAR
  RCV003318350 CLINVAR
  RCV003430707 CLINVAR
dbSNP (RS) rs587782931 CLINVAR
MedGen C0023976 CLINVAR
  C0152424 CLINVAR
  C3276096 CLINVAR
  C3661900 CLINVAR
  CN230736 CLINVAR
NCBI Gene NKX2-5 CLINVAR
OMIM 108900 CLINVAR
  600584 CLINVAR
SNOMED CT 9651007 CLINVAR