rs984722259 Rat Genome Database

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Variant: rs984722259 -  Homo sapiens

RGD ID: 151828237
RS ID: rs984722259
ClinVar ID: CV1435682
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127404709  NKX2-5  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 5 172,660,053
GRCh38 5 173,233,050
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_671t1:c.494C>T
NM_004387.4:c.494C>T
LRG_671:g.7263C>T
NG_013340.1:g.7263C>T
More... 		12/09/2023 3 prime utr variant 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; 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_001166175
Location:3UTRS;EXON

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

Gene Symbol:NKX2-5
Accession:NM_004387
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 165
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFPSPALTPTPFSVKDILNLEQQQRSLAAAGELSARLEATLAPSSCMLAAFKPEAYAGPEAAAPGLPELRAELGRAPSPA
KCASAFPAAPAFYPRAYSDPDPAKDPRAEKKELCALQKAVELEKTEADNAERPRARRRRKPRVLFSQAQVYELERRFKQQ
RYLSVPERDQLASVLKLTSTQVKIWFQNRRYKCKRQRQDQTLELVGLPPPPPPPARRIAVPVLVRDGKPCLGDSAPYAPA
YGVGLNPYGYNAYPAYPGYGGAACSPGYSCTAAYPAGPSPAQPATAAANNNFVNFGVGDLNAVQSPGIPQSNSGVSTLHG
IRAW*

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

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532   PMID:29368431  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001955420 CLINVAR
  RCV002275291 CLINVAR
  RCV002334934 CLINVAR
  RCV002484679 CLINVAR
dbSNP (RS) rs984722259 CLINVAR
MedGen C3276096 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
SNOMED CT 86299006 CLINVAR