rs748327367 Rat Genome Database

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Variant: rs748327367 -  Homo sapiens

RGD ID: 13474085
RS ID: rs748327367
ClinVar ID: CV459420
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CDKN2A  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 21,994,164
GRCh38 9 21,994,165
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_058195.3:c.167G>A
LRG_11:g.5327G>A
NG_007485.1:g.5327G>A
NC_000009.12:g.21994165C>T
More... 		04/25/2023 genic upstream transcript variant|intron variant|missense variant uncertain significance Cancer predisposition; Hereditary Cancer Syndrome; Hereditary cutaneous melanoma; Hereditary melanoma; Hereditary neoplastic syndrome; Melanoma astrocytoma syndrome; Neoplastic Syndromes, Hereditary; none provided; Tumor predisposition
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:NM_058195
Location:EXON
Amino Acid Prediction: G to E (nonsynonymous)
Amino Acid Position: 56
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVRRFLVTLRIRRACGPPRVRVFVVHIPRLTGEWAAPGAPAAVALVLMLLRSQRLEQQPLPRRPGHDDGQRPSGGAAAAP
RRGAQLRRPRHSHPTRARRCPGGLPGHAGGAAPGRGAAGRARCLGPSARGPG*

Gene Symbol:CDKN2A
Accession:XM_011517675
Location:INTRON

Gene Symbol:CDKN2A
Accession:NM_058197
Location:INTRON

Gene Symbol:CDKN2A
Accession:NM_000077
Location:INTRON

Gene Symbol:CDKN2A
Accession:NM_001195132
Location:INTRON

Gene Symbol:CDKN2A
Accession:XM_047422596
Location:INTRON

Gene Symbol:CDKN2A
Accession:XM_047422598
Location:INTRON

Gene Symbol:CDKN2A
Accession:XM_011517676
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532   PMID:29641532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000542585 CLINVAR
  RCV000566041 CLINVAR
  RCV000663196 CLINVAR
  RCV001775859 CLINVAR
  RCV003476257 CLINVAR
dbSNP (RS) rs748327367 CLINVAR
MedGen C0027672 CLINVAR
  C1512419 CLINVAR
  C1835042 CLINVAR
  C1838547 CLINVAR
  C3661900 CLINVAR
NCBI Gene CDKN2A CLINVAR
OMIM 155755 CLINVAR
  600160 CLINVAR
  606719 CLINVAR
SNOMED CT 699346009 CLINVAR