RGD:8568123 Rat Genome Database

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Variant: RGD:8568123 -  Homo sapiens

RGD ID: 8568123
RS ID: rs375086983
ClinVar ID: CV39070
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127404708  NKX2-5  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 5 172,659,699
GRCh38 5 173,232,696
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_013340.1:g.7617C>A
NC_000005.10:g.173232696G>T
NC_000005.9:g.172659699G>T
NP_004378.1:p.Pro283Gln
More... 		08/16/2023 3 prime utr variant|missense variant pathogenic|uncertain significance antenatal|neonatal/infancy >1 / 1000 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; Conotruncal cardiac defects; Conotruncal heart malformations; Fallot tetralogy; Hypoplastic left heart syndrome 2; Hypothyroidism, congenital, nongoitrous, 5; none provided; Tetralogy of Fallot; Ventricular septal defect 3
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: P to Q (nonsynonymous)
Amino Acid Position: 283
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFPSPALTPTPFSVKDILNLEQQQRSLAAAGELSARLEATLAPSSCMLAAFKPEAYAGPEAAAPGLPELRAELGRAPSPA
KCASAFPAAPAFYPRAYSDPDPAKDPRAEKKELCALQKAVELEKTEADNAERPRARRRRKPRVLFSQAQVYELERRFKQQ
RYLSAPERDQLASVLKLTSTQVKIWFQNRRYKCKRQRQDQTLELVGLPPPPPPPARRIAVPVLVRDGKPCLGDSAPYAPA
YGVGLNPYGYNAYPAYPGYGGAACSPGYSCTAAYPAGPSPAQQATAAANNNFVNFGVGDLNAVQSPGIPQSNSGVSTLHG
IRAW*

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

Variant Samples
Additional References at PubMed
PMID:21110066   PMID:25741868   PMID:25742962   PMID:27152669   PMID:28492532   PMID:30508507   PMID:31824610   PMID:31983221   PMID:32425884  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000023023 CLINVAR
  RCV000421219 CLINVAR
  RCV000539285 CLINVAR
  RCV002408478 CLINVAR
  RCV002490404 CLINVAR
dbSNP (RS) rs375086983 CLINVAR
MedGen C3276096 CLINVAR
  C3280785 CLINVAR
  C3661900 CLINVAR
  CN230736 CLINVAR
NCBI Gene NKX2-5 CLINVAR
OMIM 108900 CLINVAR
  187500 CLINVAR
  217095 CLINVAR
  225250 CLINVAR
  600584 CLINVAR
  614432 CLINVAR
  614435 CLINVAR
OMIM Allele 600584.0021 CLINVAR
SNOMED CT 86299006 CLINVAR