RGD:9832248 Rat Genome Database

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Variant: RGD:9832248 -  Homo sapiens

RGD ID: 9832248
RS ID: rs374360796
ClinVar ID: CV140420
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CDKN2A  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 9 21,994,262
GRCh38 9 21,994,263
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
LRG_11:g.5229C>T
NG_007485.1:g.5229C>T
NC_000009.12:g.21994263G>A
p.Phe23Phe
More... 		10/07/2021 2kb upstream variant|intron variant|synonymous variant benign|likely benign|conflicting interpretations of pathogenicity adolescent AllHighlyPenetrant; 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:XM_047422597
Location:5UTRS;INTRON

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

Gene Symbol:CDKN2A
Accession:NM_058195
Location:EXON
Amino Acid Prediction: F to F (synonymous)
Amino Acid Position: 23
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVRRFLVTLRIRRACGPPRVRVFVVHIPRLTGEWAAPGAPAAVALVLMLLRSQRLGQQPLPRRPGHDDGQRPSGGAAAAP
RRGAQLRRPRHSHPTRARRCPGGLPGHAGGAAPGRGAAGRARCLGPSARGPG*

Gene Symbol:CDKN2A
Accession:XM_011517675
Location:INTRON

Gene Symbol:CDKN2A
Accession:XM_047422596
Location:INTRON

Gene Symbol:CDKN2A
Accession:XM_011517676
Location:INTRON

Gene Symbol:CDKN2A
Accession:NM_001195132
Location:INTRON

Gene Symbol:CDKN2A
Accession:NM_000077
Location:INTRON

Gene Symbol:CDKN2A
Accession:XM_047422598
Location:INTRON

Gene Symbol:CDKN2A
Accession:NM_058197
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:18803811   PMID:25741868   PMID:26225579   PMID:26467025   PMID:28492532   PMID:36969747  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000124231 CLINVAR
  RCV000411993 CLINVAR
  RCV000558065 CLINVAR
  RCV000569047 CLINVAR
  RCV000679794 CLINVAR
dbSNP (RS) rs374360796 CLINVAR
MedGen C0027672 CLINVAR
  C1512419 CLINVAR
  C1838547 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene CDKN2A CLINVAR
OMIM 600160 CLINVAR
  606719 CLINVAR
SNOMED CT 699346009 CLINVAR