RGD:38469295 Rat Genome Database

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Variant: RGD:38469295 -  Homo sapiens

RGD ID: 38469295
RS ID: rs780688010
ClinVar ID: CV932848
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127404708  NKX2-5  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 5 172,659,748
GRCh38 5 173,232,745
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001166175.2:c.*752G>A
NM_001166176.2:c.*598G>A
NC_000005.9:g.172659748C>T
NM_004387.4:c.799G>A
More... 		08/30/2019 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
Disease Annotations     Click to see Annotation Detail View


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: G to S (nonsynonymous)
Amino Acid Position: 267
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFPSPALTPTPFSVKDILNLEQQQRSLAAAGELSARLEATLAPSSCMLAAFKPEAYAGPEAAAPGLPELRAELGRAPSPA
KCASAFPAAPAFYPRAYSDPDPAKDPRAEKKELCALQKAVELEKTEADNAERPRARRRRKPRVLFSQAQVYELERRFKQQ
RYLSAPERDQLASVLKLTSTQVKIWFQNRRYKCKRQRQDQTLELVGLPPPPPPPARRIAVPVLVRDGKPCLGDSAPYAPA
YGVGLNPYGYNAYPAYPGYGGAACSPSYSCTAAYPAGPSPAQPATAAANNNFVNFGVGDLNAVQSPGIPQSNSGVSTLHG
IRAW*

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001202387 CLINVAR
dbSNP (RS) rs780688010 CLINVAR
MedGen C3276096 CLINVAR
NCBI Gene NKX2-5 CLINVAR
OMIM 108900 CLINVAR
  600584 CLINVAR