RGD:155677013 Rat Genome Database

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Variant: RGD:155677013 -  Homo sapiens

RGD ID: 155677013
ClinVar ID: CV1771821
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NKX2-5  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 5 172,661,963
GRCh38 5 173,234,960
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.5353G>A
NC_000005.10:g.173234960C>T
NC_000005.9:g.172661963C>T
LRG_671p1:p.Ala42Thr
More... 		08/23/2022 missense 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
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NKX2-5
Accession:NM_004387
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 42
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFPSPALTPTPFSVKDILNLEQQQRSLAAAGELSARLEATLTPSSCMLAAFKPEAYAGPEAAAPGLPELRAELGRAPSPA
KCASAFPAAPAFYPRAYSDPDPAKDPRAEKKELCALQKAVELEKTEADNAERPRARRRRKPRVLFSQAQVYELERRFKQQ
RYLSAPERDQLASVLKLTSTQVKIWFQNRRYKCKRQRQDQTLELVGLPPPPPPPARRIAVPVLVRDGKPCLGDSAPYAPA
YGVGLNPYGYNAYPAYPGYGGAACSPGYSCTAAYPAGPSPAQPATAAANNNFVNFGVGDLNAVQSPGIPQSNSGVSTLHG
IRAW*

Gene Symbol:NKX2-5
Accession:NM_001166176
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 42
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFPSPALTPTPFSVKDILNLEQQQRSLAAAGELSARLEATLTPSSCMLAAFKPEAYAGPEAAAPGLPELRAELGRAPSPA
KCASAFPAAPAFYPRAYSDPDPAKDPRAEKKGCELPRGQRPPVLFSSALSQPDFLQMLSETCRWLPVHLAE*

Gene Symbol:NKX2-5
Accession:NM_001166175
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 42
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFPSPALTPTPFSVKDILNLEQQQRSLAAAGELSARLEATLTPSSCMLAAFKPEAYAGPEAAAPGLPELRAELGRAPSPA
KCASAFPAAPAFYPRAYSDPDPAKDPRAEKKA*

Gene Symbol:NKX2-5
Accession:XM_017009071
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 42
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFPSPALTPTPFSVKDILNLEQQQRSLAAAGELSARLEATLTPSSCMLAAFKPEAYAGPEAAAPGLPELRAELGRAPSPA
KCASAFPAAPAFYPRAYSDPDPAKDPRAEKKAQLAGAARAERFPRGKVRKCCATAGTREWTR*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002297844 CLINVAR
MedGen C3276096 CLINVAR
NCBI Gene NKX2-5 CLINVAR
OMIM 108900 CLINVAR
  600584 CLINVAR