RGD:13522498 Rat Genome Database

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Variant: RGD:13522498 -  Homo sapiens

RGD ID: 13522498
RS ID: rs371597026
ClinVar ID: CV489142
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NKX3-2  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 4 13,545,891
GRCh38 4 13,544,267
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_023192.1:g.5224T>G
NC_000004.12:g.13544267A>C
NC_000004.11:g.13545891A>C
NP_001180.1:p.Cys50Gly
More... 		01/14/2020 missense variant likely benign|conflicting interpretations of pathogenicity|uncertain significance Connective tissue disease; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NKX3-2
Accession:XM_047416049
Location:EXON
Amino Acid Prediction: C to G (nonsynonymous)
Amino Acid Position: 50
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVRGANTLTSFSIQAILNKKEERGGLAAPEGRPAPGGTAASVAAAPAVGCWRLFGERDAGALGGAEDSLLASPAGTRTA
AGRTAESPEGWDSDSALSEENESRRRCADARGASGAGLAGGSLSLGQPVCELAASKDLEEEAAGRSDSEMSASVSGDRSP
RTEDDGVGPRGAHVSALCSGAGGGGGSGPAGVAEEEEEPAAPKPRKKRSRAAFSHAQVFELERRFNHQRYLSGPERADLA
ASLKLTETQVKIWFQNRRYKTKRRQMAADLLASAPAAKKVAVKVLVRDDQRQYLPGEVLRPPSLLPLQPSYYYPYYCLPG
WALSTCAAAAGTQ*

Gene Symbol:NKX3-2
Accession:XM_047416050
Location:EXON
Amino Acid Prediction: C to G (nonsynonymous)
Amino Acid Position: 50
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVRGANTLTSFSIQAILNKKEERGGLAAPEGRPAPGGTAASVAAAPAVGCWRLFGERDAGALGGAEDSLLASPAGTRTA
AGRTAESPEGWDSDSALSEENESRRRCADARGASGAGLAGGSLSLGQPVCELAASKDLEEEAAGRSDSEMSASVSGDRSP
RTEDDGVGPRGAHVSALCSGAGGGGGSGPAGVAEEEEEPAAPKPRKKRSRAAFSHAQVFELERRFNHQRYLSGPERADLA
ASLKLTETQVKIWFQNRRYKTKRRQMAADLLASAPAAKKVAVKVLVRDDQRQYLPGEVLRPPSLLPLQPSYYYPYYCLPG
WALSTCAAAAGTQ*

Gene Symbol:NKX3-2
Accession:NM_001189
Location:EXON
Amino Acid Prediction: C to G (nonsynonymous)
Amino Acid Position: 50
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVRGANTLTSFSIQAILNKKEERGGLAAPEGRPAPGGTAASVAAAPAVGCWRLFGERDAGALGGAEDSLLASPAGTRTA
AGRTAESPEGWDSDSALSEENESRRRCADARGASGAGLAGGSLSLGQPVCELAASKDLEEEAAGRSDSEMSASVSGDRSP
RTEDDGVGPRGAHVSALCSGAGGGGGSGPAGVAEEEEEPAAPKPRKKRSRAAFSHAQVFELERRFNHQRYLSGPERADLA
ASLKLTETQVKIWFQNRRYKTKRRQMAADLLASAPAAKKVAVKVLVRDDQRQYLPGEVLRPPSLLPLQPSYYYPYYCLPG
WALSTCAAAAGTQ*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000591813 CLINVAR
  RCV002279372 CLINVAR
  RCV003925771 CLINVAR
dbSNP (RS) rs371597026 CLINVAR
MedGen C0009782 CLINVAR
  C3661900 CLINVAR
NCBI Gene NKX3-2 CLINVAR
OMIM 602183 CLINVAR