RGD:14692861 Rat Genome Database

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Variant: RGD:14692861 -  Homo sapiens

RGD ID: 14692861
RS ID: rs1565019976
ClinVar ID: CV615973
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NKX6-2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 10 134,598,665
GRCh38 10 132,785,161
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000010.10:g.134598665G>A
NC_000010.11:g.132785161G>A
NP_796374.2:p.Gln197Ter
NM_177400.3:c.589C>T
More... 		11/14/2023 nonsense pathogenic|likely pathogenic none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NKX6-2
Accession:NM_177400
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 197
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDTNRPGAFVLSSAPLAALHNMAEMKTSLFPYALQGPAGFKAPALGGLGAQLPLGTPHGISDILGRPVGAAGGGLLGGLP
RLNGLASSAGVYFGPAAAVARGYPKPLAELPGRPPIFWPGVVQGAPWRDPRLAGPAPAGGVLDKDGKKKHSRPTFSGQQI
FALEKTFEQTKYLAGPERARLAYSLGMTESQVKVWF*NRRTKWRKRHAVEMASAKKKQDSDAEKLKVGGSDAEDDDEYNR
PLDPNSDDEKITRLLKKHKPSNLALVSPCGGGAGDAL*
Variant Samples
Additional References at PubMed
PMID:28492532   PMID:28969374   PMID:29388673   PMID:30285346   PMID:31509304  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000770991 CLINVAR
  RCV003558575 CLINVAR
dbSNP (RS) rs1565019976 CLINVAR
MedGen C3661900 CLINVAR
  C4479653 CLINVAR
NCBI Gene NKX6-2 CLINVAR
OMIM 605955 CLINVAR
  617560 CLINVAR