RGD:21073703 Rat Genome Database

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Variant: RGD:21073703 -  Homo sapiens

RGD ID: 21073703
RS ID: rs1369120871
ClinVar ID: CV796380
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NKX6-2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 10 134,599,137
GRCh38 10 132,785,633
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.316C>T
NC_000010.11:g.132785633G>A
NC_000010.10:g.134599137G>A
NP_796374.2:p.Pro106Ser
 05/01/2019 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:NKX6-2
Accession:NM_177400
Location:EXON
Amino Acid Prediction: P to S (nonsynonymous)
Amino Acid Position: 106
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDTNRPGAFVLSSAPLAALHNMAEMKTSLFPYALQGPAGFKAPALGGLGAQLPLGTPHGISDILGRPVGAAGGGLLGGLP
RLNGLASSAGVYFGPAAAVARGYPKSLAELPGRPPIFWPGVVQGAPWRDPRLAGPAPAGGVLDKDGKKKHSRPTFSGQQI
FALEKTFEQTKYLAGPERARLAYSLGMTESQVKVWFQNRRTKWRKRHAVEMASAKKKQDSDAEKLKVGGSDAEDDDEYNR
PLDPNSDDEKITRLLKKHKPSNLALVSPCGGGAGDAL*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000994527 CLINVAR
dbSNP (RS) rs1369120871 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene NKX6-2 CLINVAR
OMIM 605955 CLINVAR