RGD:13207653 Rat Genome Database

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Variant: RGD:13207653 -  Homo sapiens

RGD ID: 13207653
RS ID: rs1131692047
ClinVar ID: CV423705
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NKX6-2  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 10 134,599,332
GRCh38 10 132,785,828
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_177400.3:c.121A>T
NM_177400.2:c.121A>T
NP_796374.2:p.Lys41Ter
NC_000010.11:g.132785828T>A
More... 		02/17/2023 nonsense pathogenic|likely pathogenic
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NKX6-2
Accession:NM_177400
Location:EXON
Amino Acid Prediction: K to * (nonsynonymous)
Amino Acid Position: 41
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDTNRPGAFVLSSAPLAALHNMAEMKTSLFPYALQGPAGF*APALGGLGAQLPLGTPHGISDILGRPVGAAGGGLLGGLP
RLNGLASSAGVYFGPAAAVARGYPKPLAELPGRPPIFWPGVVQGAPWRDPRLAGPAPAGGVLDKDGKKKHSRPTFSGQQI
FALEKTFEQTKYLAGPERARLAYSLGMTESQVKVWFQNRRTKWRKRHAVEMASAKKKQDSDAEKLKVGGSDAEDDDEYNR
PLDPNSDDEKITRLLKKHKPSNLALVSPCGGGAGDAL*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28575651   PMID:30285346   PMID:31509304  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000494722 CLINVAR
dbSNP (RS) rs1131692047 CLINVAR
MedGen C4479653 CLINVAR
NCBI Gene NKX6-2 CLINVAR
OMIM 605955 CLINVAR
  617560 CLINVAR
OMIM Allele 605955.0001 CLINVAR