rs1554659236 Rat Genome Database

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Variant: rs1554659236 -  Homo sapiens

RGD ID: 13703162
RS ID: rs1554659236
ClinVar ID: CV539276
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CDKN2A  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 9 21,994,288
GRCh38 9 21,994,289
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_11t2:c.43T>C
LRG_11:g.5203T>C
NG_007485.1:g.5203T>C
NM_001363763.2:c.-4+532T>C
More... 		04/21/2023 intron variant uncertain significance Cancer predisposition; Hereditary Cancer Syndrome; Hereditary cutaneous melanoma; Hereditary melanoma; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; 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: C to R (nonsynonymous)
Amino Acid Position: 15
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVRRFLVTLRIRRARGPPRVRVFVVHIPRLTGEWAAPGAPAAVALVLMLLRSQRLGQQPLPRRPGHDDGQRPSGGAAAAP
RRGAQLRRPRHSHPTRARRCPGGLPGHAGGAAPGRGAAGRARCLGPSARGPG*

Gene Symbol:CDKN2A
Accession:NM_058197
Location: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_011517675
Location:INTRON

Gene Symbol:CDKN2A
Accession:XM_047422598
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532   PMID:28944238  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000662739 CLINVAR
  RCV001022430 CLINVAR
  RCV001855405 CLINVAR
dbSNP (RS) rs1554659236 CLINVAR
MedGen C0027672 CLINVAR
  C1512419 CLINVAR
  C1838547 CLINVAR
NCBI Gene CDKN2A CLINVAR
OMIM 600160 CLINVAR
  606719 CLINVAR
SNOMED CT 699346009 CLINVAR