RGD:151801668 Rat Genome Database

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Variant: RGD:151801668 -  Homo sapiens

RGD ID: 151801668
RS ID: rs1587330309
ClinVar ID: CV1442313
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CDKN2A  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 9 21,970,899
GRCh38 9 21,970,900
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_058195.4:c.*101+2T>G
NM_058197.5:c.*380+2T>G
NM_001363763.2:c.304+2T>G
NM_000077.5:c.457+2T>G
More... 		08/12/2021 splice donor variant uncertain significance Hereditary cutaneous melanoma; Hereditary melanoma
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CDKN2A
Accession:NM_058195
Location:3UTRS;INTRON

Gene Symbol:CDKN2A
Accession:NM_058197
Location:3UTRS;INTRON

Gene Symbol:CDKN2A
Accession:XM_011517676
Location:INTRON

Gene Symbol:CDKN2A
Accession:NM_001363763
Location:INTRON

Gene Symbol:CDKN2A
Accession:XM_047422597
Location:INTRON

Gene Symbol:CDKN2A
Accession:NM_000077
Location:INTRON

Gene Symbol:CDKN2A
Accession:NM_001195132
Location:INTRON

Gene Symbol:CDKN2A
Accession:XM_011517675
Location:INTRON

Gene Symbol:CDKN2A
Accession:XM_047422596
Location:INTRON

Gene Symbol:CDKN2A
Accession:XM_047422598
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:10861313   PMID:14508519   PMID:15140239   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002011630 CLINVAR
dbSNP (RS) rs1587330309 CLINVAR
MedGen C1512419 CLINVAR
NCBI Gene CDKN2A CLINVAR
OMIM 600160 CLINVAR