rs1587340603 Rat Genome Database

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Variant: rs1587340603 -  Homo sapiens

RGD ID: 25327087
RS ID: rs1587340603
ClinVar ID: CV809430
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CDKN2A  LOC130001603  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 9 21,974,826
GRCh38 9 21,974,827
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000009.11:g.21974826T>C
LRG_11t1:c.1A>G
NM_001363763.2:c.-3-3619A>G
LRG_11:g.24665A>G
More... 		02/03/2023 initiatior codon variant|initiator_codon_variant uncertain significance Cancer predisposition; Hereditary Cancer Syndrome; Hereditary cutaneous melanoma; Hereditary melanoma; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; none provided; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CDKN2A
Accession:NM_001363763
Location:5UTRS;INTRON

Gene Symbol:CDKN2A
Accession:XM_047422597
Location:5UTRS;INTRON

Gene Symbol:CDKN2A
Accession:NM_000077
Location:EXON

Gene Symbol:CDKN2A
Accession:XM_011517675
Location:EXON

Gene Symbol:CDKN2A
Accession:NM_058197
Location:EXON

Gene Symbol:CDKN2A
Accession:NM_001195132
Location:EXON

Gene Symbol:CDKN2A
Accession:XM_011517676
Location:EXON

Gene Symbol:CDKN2A
Accession:XM_047422596
Location:INTRON

Gene Symbol:CDKN2A
Accession:XM_047422598
Location:INTRON

Gene Symbol:CDKN2A
Accession:NM_058195
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001013980 CLINVAR
  RCV001229625 CLINVAR
  RCV003442143 CLINVAR
dbSNP (RS) rs1587340603 CLINVAR
MedGen C0027672 CLINVAR
  C1512419 CLINVAR
  C3661900 CLINVAR
NCBI Gene CDKN2A CLINVAR
  LOC130001603 CLINVAR
OMIM 600160 CLINVAR
SNOMED CT 699346009 CLINVAR