RGD:9834327 Rat Genome Database

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Variant: RGD:9834327 -  Homo sapiens

RGD ID: 9834327
RS ID: rs149253558
ClinVar ID: CV180326
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CDKN2A  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 9 21,994,358
GRCh38 9 21,994,359
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_11t2:c.-28C>G
LRG_11:g.5133C>G
NG_007485.1:g.5133C>G
NC_000009.12:g.21994359G>C
More... 		05/25/2018 2kb upstream variant|5 prime utr variant likely benign|uncertain significance none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CDKN2A
Accession:NM_058195
Location:5UTRS;EXON

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

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

Gene Symbol:CDKN2A
Accession:NM_058197
Location:INTRON

Gene Symbol:CDKN2A
Accession:XM_047422598
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_011517676
Location:INTRON

Gene Symbol:CDKN2A
Accession:XM_047422596
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000663294 CLINVAR
  RCV001704149 CLINVAR
dbSNP (RS) rs149253558 CLINVAR
MedGen C1838547 CLINVAR
  C3661900 CLINVAR
NCBI Gene CDKN2A CLINVAR
OMIM 600160 CLINVAR
  606719 CLINVAR