rs747477274 Rat Genome Database

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Variant: rs747477274 -  Homo sapiens

RGD ID: 13492777
RS ID: rs747477274
ClinVar ID: CV458299
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC107986930  NKX2-6  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 8 23,564,083
GRCh38 8 23,706,570
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001136271.2:c.29C>G
NG_030636.1:g.5029C>G
NC_000008.11:g.23706570G>C
NC_000008.10:g.23564083G>C
More... 		12/12/2023 missense variant likely benign Conotruncal cardiac defects; NKX2-6-related condition; none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV458299HumanConotruncal Cardiac Defects  IAGP 8554872ClinVar Annotator: match by term: Conotruncal cardiac defectsClinVarPMID:25741868 and PMID:28492532
Gene Symbol:NKX2-6
Accession:NM_001136271
Location:EXON
Amino Acid Prediction: P to R (nonsynonymous)
Amino Acid Position: 10
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLLSPVTSTRFSVKDILRLERERSCPAASPHPRVRKSPENFQYLRMDAEPRGSEVHNAGGGGGDRKLDGSEPPGGPCEAV
LEMDAERMGEPQPGLNAASPLGGGTRVPERGVGNSGDSVRGGRSEQPKARQRRKPRVLFSQAQVLALERRFKQQRYLSAP
EREHLASALQLTSTQVKIWFQNRRYKCKRQRQDKSLELAGHPLTPRRVAVPVLVRDGKPCLGPGPGAPAFPSPYSAAVSP
YSCYGGYSGAPYGAGYGTCYAGAPSGPAPHTPLASAGFGHGGQNATPQGHLAATLQGVRAW*

Gene Symbol:LOC107986930
Accession:XR_001745842
Location:INTRON;NON-CODING

Gene Symbol:LOC107986930
Accession:XR_001745841
Location:INTRON;NON-CODING

.
PMID:25741868   PMID:28492532  



1 to 9 of 9 rows
Database
Acc Id
Source(s)
ClinVar RCV000535203 CLINVAR
  RCV003960329 CLINVAR
  RCV004707327 CLINVAR
dbSNP (RS) rs747477274 CLINVAR
MedGen C1857586 CLINVAR
  C3661900 CLINVAR
NCBI Gene NKX2-6 CLINVAR
OMIM 217095 CLINVAR
  611770 CLINVAR
1 to 9 of 9 rows