RGD:8560830 Rat Genome Database

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Variant: RGD:8560830 -  Homo sapiens

RGD ID: 8560830
RS ID: rs104893904
ClinVar ID: CV24048
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NKX2-5  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 5 172,662,026
GRCh38 5 173,235,023
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.5290G>C
NC_000005.10:g.173235023C>G
NC_000005.9:g.172662026C>G
NP_004378.1:p.Glu21Gln
More... 		12/31/2019 missense variant|missense_variant pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance antenatal|neonatal/infancy 1-5 / 10 000|5-8/1000 live births|<1 / 1 000 000 AllHighlyPenetrant; 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; Fallot tetralogy; none provided
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:NKX2-5
Accession:NM_004387
Location:EXON
Amino Acid Prediction: E to Q (nonsynonymous)
Amino Acid Position: 21
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFPSPALTPTPFSVKDILNLQQQQRSLAAAGELSARLEATLAPSSCMLAAFKPEAYAGPEAAAPGLPELRAELGRAPSPA
KCASAFPAAPAFYPRAYSDPDPAKDPRAEKKELCALQKAVELEKTEADNAERPRARRRRKPRVLFSQAQVYELERRFKQQ
RYLSAPERDQLASVLKLTSTQVKIWFQNRRYKCKRQRQDQTLELVGLPPPPPPPARRIAVPVLVRDGKPCLGDSAPYAPA
YGVGLNPYGYNAYPAYPGYGGAACSPGYSCTAAYPAGPSPAQPATAAANNNFVNFGVGDLNAVQSPGIPQSNSGVSTLHG
IRAW*

Gene Symbol:NKX2-5
Accession:NM_001166176
Location:EXON
Amino Acid Prediction: E to Q (nonsynonymous)
Amino Acid Position: 21
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFPSPALTPTPFSVKDILNLQQQQRSLAAAGELSARLEATLAPSSCMLAAFKPEAYAGPEAAAPGLPELRAELGRAPSPA
KCASAFPAAPAFYPRAYSDPDPAKDPRAEKKGCELPRGQRPPVLFSSALSQPDFLQMLSETCRWLPVHLAE*

Gene Symbol:NKX2-5
Accession:NM_001166175
Location:EXON
Amino Acid Prediction: E to Q (nonsynonymous)
Amino Acid Position: 21
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFPSPALTPTPFSVKDILNLQQQQRSLAAAGELSARLEATLAPSSCMLAAFKPEAYAGPEAAAPGLPELRAELGRAPSPA
KCASAFPAAPAFYPRAYSDPDPAKDPRAEKKA*

Gene Symbol:NKX2-5
Accession:XM_017009071
Location:EXON
Amino Acid Prediction: E to Q (nonsynonymous)
Amino Acid Position: 21
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFPSPALTPTPFSVKDILNLQQQQRSLAAAGELSARLEATLAPSSCMLAAFKPEAYAGPEAAAPGLPELRAELGRAPSPA
KCASAFPAAPAFYPRAYSDPDPAKDPRAEKKAQLAGAARAERFPRGKVRKCCATAGTREWTR*
Variant Samples
Additional References at PubMed
PMID:11714651   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000009574 CLINVAR
  RCV000030618 CLINVAR
  RCV000171013 CLINVAR
  RCV000514277 CLINVAR
  RCV000618034 CLINVAR
  RCV000987633 CLINVAR
dbSNP (RS) rs104893904 CLINVAR
MedGen C0039685 CLINVAR
  C0152021 CLINVAR
  C3276096 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
  CN230736 CLINVAR
NCBI Gene NKX2-5 CLINVAR
OMIM 108900 CLINVAR
  187500 CLINVAR
  600584 CLINVAR
OMIM Allele 600584.0006 CLINVAR
SNOMED CT 13213009 CLINVAR
  86299006 CLINVAR