RGD:14691431 Rat Genome Database

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Variant: RGD:14691431 -  Homo sapiens

RGD ID: 14691431
RS ID: rs374668781
ClinVar ID: CV617510
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CDKN2A  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 9 21,968,215
GRCh38 9 21,968,216
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_11:g.31276G>C
NG_007485.1:g.31276G>C
NC_000009.12:g.21968216C>G
NC_000009.11:g.21968215C>G
More... 		03/02/2017 3 prime utr variant likely benign Cancer predisposition; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CDKN2A
Accession:NM_001195132
Location:3UTRS;EXON

Gene Symbol:CDKN2A
Accession:XM_047422597
Location:3UTRS;EXON

Gene Symbol:CDKN2A
Accession:NM_000077
Location:3UTRS;EXON

Gene Symbol:CDKN2A
Accession:NM_001363763
Location:3UTRS;EXON

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

Gene Symbol:CDKN2A
Accession:NM_058195
Location:3UTRS;EXON

Gene Symbol:CDKN2A
Accession:XM_047422596
Location:INTRON

Gene Symbol:CDKN2A
Accession:XM_011517676
Location:INTRON

Gene Symbol:CDKN2A
Accession:XM_011517675
Location:INTRON

Gene Symbol:CDKN2A
Accession:XM_047422598
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000771248 CLINVAR
dbSNP (RS) rs374668781 CLINVAR
MedGen C0027672 CLINVAR
NCBI Gene CDKN2A CLINVAR
OMIM 600160 CLINVAR
SNOMED CT 699346009 CLINVAR