rs746594822 Rat Genome Database

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Variant: rs746594822 -  Homo sapiens

RGD ID: 13535609
RS ID: rs746594822
ClinVar ID: CV496426
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NKX2-5  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 5 172,661,976
GRCh38 5 173,234,973
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.5340G>A
NC_000005.10:g.173234973C>T
NC_000005.9:g.172661976C>T
p.Leu37Leu
More... 		10/04/2023 synonymous variant likely benign|uncertain significance 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; Conotruncal cardiac defects; Conotruncal heart malformations; Fallot tetralogy; Hypoplastic left heart syndrome 2; Hypothyroidism, congenital, nongoitrous, 5; 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:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 37
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFPSPALTPTPFSVKDILNLEQQQRSLAAAGELSARLEATLAPSSCMLAAFKPEAYAGPEAAAPGLPELRAELGRAPSPA
KCASAFPAAPAFYPRAYSDPDPAKDPRAEKKGCELPRGQRPPVLFSSALSQPDFLQMLSETCRWLPVHLAE*

Gene Symbol:NKX2-5
Accession:NM_004387
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 37
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFPSPALTPTPFSVKDILNLEQQQRSLAAAGELSARLEATLAPSSCMLAAFKPEAYAGPEAAAPGLPELRAELGRAPSPA
KCASAFPAAPAFYPRAYSDPDPAKDPRAEKKELCALQKAVELEKTEADNAERPRARRRRKPRVLFSQAQVYELERRFKQQ
RYLSAPERDQLASVLKLTSTQVKIWFQNRRYKCKRQRQDQTLELVGLPPPPPPPARRIAVPVLVRDGKPCLGDSAPYAPA
YGVGLNPYGYNAYPAYPGYGGAACSPGYSCTAAYPAGPSPAQPATAAANNNFVNFGVGDLNAVQSPGIPQSNSGVSTLHG
IRAW*

Gene Symbol:NKX2-5
Accession:NM_001166175
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 37
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFPSPALTPTPFSVKDILNLEQQQRSLAAAGELSARLEATLAPSSCMLAAFKPEAYAGPEAAAPGLPELRAELGRAPSPA
KCASAFPAAPAFYPRAYSDPDPAKDPRAEKKA*

Gene Symbol:NKX2-5
Accession:XM_017009071
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 37
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFPSPALTPTPFSVKDILNLEQQQRSLAAAGELSARLEATLAPSSCMLAAFKPEAYAGPEAAAPGLPELRAELGRAPSPA
KCASAFPAAPAFYPRAYSDPDPAKDPRAEKKAQLAGAARAERFPRGKVRKCCATAGTREWTR*
Variant Samples
Additional References at PubMed
PMID:12798584   PMID:14607454   PMID:24033266   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000607896 CLINVAR
  RCV002438547 CLINVAR
  RCV002498893 CLINVAR
  RCV002529342 CLINVAR
dbSNP (RS) rs746594822 CLINVAR
MedGen C3276096 CLINVAR
  CN169374 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