RGD:8560831 Rat Genome Database

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Variant: RGD:8560831 -  Homo sapiens

RGD ID: 8560831
RS ID: rs104893905
ClinVar ID: CV24049
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127404708  NKX2-5  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 5 172,659,901
GRCh38 5 173,232,898
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.7415C>T
NC_000005.10:g.173232898G>A
NC_000005.9:g.172659901G>A
NP_004378.1:p.Arg216Cys
More... 		05/22/2019 3 prime utr variant|missense variant|utr-3 pathogenic|uncertain significance antenatal|neonatal/infancy 1-5 / 10 000 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: R to C (nonsynonymous)
Amino Acid Position: 216
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFPSPALTPTPFSVKDILNLEQQQRSLAAAGELSARLEATLAPSSCMLAAFKPEAYAGPEAAAPGLPELRAELGRAPSPA
KCASAFPAAPAFYPRAYSDPDPAKDPRAEKKELCALQKAVELEKTEADNAERPRARRRRKPRVLFSQAQVYELERRFKQQ
RYLSAPERDQLASVLKLTSTQVKIWFQNRRYKCKRQRQDQTLELVGLPPPPPPPACRIAVPVLVRDGKPCLGDSAPYAPA
YGVGLNPYGYNAYPAYPGYGGAACSPGYSCTAAYPAGPSPAQPATAAANNNFVNFGVGDLNAVQSPGIPQSNSGVSTLHG
IRAW*

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

Variant Samples
Additional References at PubMed
PMID:11714651   PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000009575 CLINVAR
  RCV001588805 CLINVAR
  RCV002482846 CLINVAR
dbSNP (RS) rs104893905 CLINVAR
MedGen C0039685 CLINVAR
  C3276096 CLINVAR
  C3661900 CLINVAR
NCBI Gene NKX2-5 CLINVAR
OMIM 108900 CLINVAR
  187500 CLINVAR
  217095 CLINVAR
  225250 CLINVAR
  600584 CLINVAR
  614432 CLINVAR
  614435 CLINVAR
OMIM Allele 600584.0007 CLINVAR
SNOMED CT 86299006 CLINVAR