rs752309957 Rat Genome Database

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Variant: rs752309957 -  Homo sapiens

RGD ID: 152051188
RS ID: rs752309957
ClinVar ID: CV1612099
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CDKN2A  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 21,994,122
GRCh38 9 21,994,123
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001363763.2:c.-4+698G>A
NM_058195.4:c.193+16G>A
LRG_11:g.5369G>A
NG_007485.1:g.5369G>A
More... 		11/13/2021 intron variant likely benign AllHighlyPenetrant; Hereditary cutaneous melanoma; Hereditary melanoma
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:XM_047422596
Location:INTRON

Gene Symbol:CDKN2A
Accession:NM_001195132
Location:INTRON

Gene Symbol:CDKN2A
Accession:NM_000077
Location:INTRON

Gene Symbol:CDKN2A
Accession:XM_011517676
Location:INTRON

Gene Symbol:CDKN2A
Accession:XM_047422598
Location:INTRON

Gene Symbol:CDKN2A
Accession:NM_058195
Location:INTRON

Gene Symbol:CDKN2A
Accession:XM_011517675
Location:INTRON

Gene Symbol:CDKN2A
Accession:NM_058197
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002128646 CLINVAR
  RCV004596524 CLINVAR
dbSNP (RS) rs752309957 CLINVAR
MedGen C1512419 CLINVAR
  CN169374 CLINVAR
NCBI Gene CDKN2A CLINVAR
OMIM 600160 CLINVAR