RGD:13465796 Rat Genome Database

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Variant: RGD:13465796 -  Homo sapiens

RGD ID: 13465796
RS ID: rs1554654224
ClinVar ID: CV475094
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CDKN2A  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 9 21,971,209
GRCh38 9 21,971,210
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_11t1:c.151-2A>G
LRG_11:g.28282A>G
NG_007485.1:g.28282A>G
NC_000009.12:g.21971210T>C
More... 		09/14/2021 splice acceptor variant pathogenic|likely pathogenic|not provided 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_058197
Location:3UTRS;INTRON

Gene Symbol:CDKN2A
Accession:XM_047422596
Location:5UTRS;INTRON

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

Gene Symbol:CDKN2A
Accession:NM_001363763
Location:5UTRS;INTRON

Gene Symbol:CDKN2A
Accession:XM_047422598
Location:5UTRS;INTRON

Gene Symbol:CDKN2A
Accession:XM_011517676
Location:INTRON

Gene Symbol:CDKN2A
Accession:XM_011517675
Location:INTRON

Gene Symbol:CDKN2A
Accession:NM_000077
Location:INTRON

Gene Symbol:CDKN2A
Accession:NM_001195132
Location:INTRON

Gene Symbol:CDKN2A
Accession:NM_058195
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:11433531   PMID:11687599   PMID:12920094   PMID:22841127   PMID:28492532   PMID:28592523   PMID:28830827  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000561416 CLINVAR
  RCV001377736 CLINVAR
  RCV001637090 CLINVAR
dbSNP (RS) rs1554654224 CLINVAR
MedGen C0027672 CLINVAR
  C1512419 CLINVAR
  C3661900 CLINVAR
NCBI Gene CDKN2A CLINVAR
OMIM 600160 CLINVAR
SNOMED CT 699346009 CLINVAR