RGD:14692132 Rat Genome Database

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Variant: RGD:14692132 -  Homo sapiens

RGD ID: 14692132
RS ID: rs1060501269
ClinVar ID: CV617526
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CDKN2A  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 9 21,971,114
GRCh38 9 21,971,115
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_11t1:c.244G>C
NP_478102.2:p.Arg96Pro
NP_000068.1:p.Val82Leu
NC_000009.11:g.21971114C>G
More... 		06/22/2018 3 prime utr variant uncertain significance 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:NM_058197
Location:3UTRS;EXON

Gene Symbol:CDKN2A
Accession:NM_001363763
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 31
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMMGSARVAELLLLHGAEPNCADPATLTRPLHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEELGHRDVARYLR
AAAGGTRGSNHARIDAAEGPSDIPD*

Gene Symbol:CDKN2A
Accession:XM_047422596
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 31
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMMGSARVAELLLLHGAEPNCADPATLTRPLHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEELGHRDVARYLR
AAAGGTRGSNHARIDAAEGPSAGWTNLRISKPNCAWHHLEISRSRLFCTTQLI*

Gene Symbol:CDKN2A
Accession:NM_001195132
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 82
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPAAGSSMEPSADWLATAAARGRVEEVRALLEAGALPNAPNSYGRRPIQVMMMGSARVAELLLLHGAEPNCADPATLTR
PLHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEELGHRDVARYLRAAAGGTRGSNHARIDAAEGPSEMIGNHLW
VCRSRHA*

Gene Symbol:CDKN2A
Accession:NM_058195
Location:EXON
Amino Acid Prediction: R to P (nonsynonymous)
Amino Acid Position: 96
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVRRFLVTLRIRRACGPPRVRVFVVHIPRLTGEWAAPGAPAAVALVLMLLRSQRLGQQPLPRRPGHDDGQRPSGGAAAAP
RRGAQLRRPRHSHPTPARRCPGGLPGHAGGAAPGRGAAGRARCLGPSARGPG*

Gene Symbol:CDKN2A
Accession:XM_011517675
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 82
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPAAGSSMEPSADWLATAAARGRVEEVRALLEAGALPNAPNSYGRRPIQVMMMGSARVAELLLLHGAEPNCADPATLTR
PLHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEELGHRDVARYLRAAAGGTRGSNHARIDAAEGPSAGWTNLRI
SKPNCAWHHLEISRSRLFCTTQLI*

Gene Symbol:CDKN2A
Accession:NM_000077
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 82
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPAAGSSMEPSADWLATAAARGRVEEVRALLEAGALPNAPNSYGRRPIQVMMMGSARVAELLLLHGAEPNCADPATLTR
PLHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEELGHRDVARYLRAAAGGTRGSNHARIDAAEGPSDIPD*

Gene Symbol:CDKN2A
Accession:XM_047422597
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 31
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMMGSARVAELLLLHGAEPNCADPATLTRPLHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEELGHRDVARYLR
AAAGGTRGSNHARIDAAEGPSDIPD*

Gene Symbol:CDKN2A
Accession:XM_011517676
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 82
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPAAGSSMEPSADWLATAAARGRVEEVRALLEAGALPNAPNSYGRRPIQVMMMGSARVAELLLLHGAEPNCADPATLTR
PLHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEELGHRDVARYLRAAAGGTRGSNHARIDAAEGPSVTASIQVP
GGEEGDFGSSYS*

Gene Symbol:CDKN2A
Accession:XM_047422598
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 31
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMMGSARVAELLLLHGAEPNCADPATLTRPLHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEELGHRDVARYLR
AAAGGTRGSNHARIDAAEGPSAGWTNLRISKPNCAWHHLEISRSRLFCTTQLI*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000773384 CLINVAR
  RCV001796207 CLINVAR
  RCV002536648 CLINVAR
dbSNP (RS) rs1060501269 CLINVAR
MedGen C0027672 CLINVAR
  C1512419 CLINVAR
  C3661900 CLINVAR
NCBI Gene CDKN2A CLINVAR
OMIM 600160 CLINVAR
SNOMED CT 699346009 CLINVAR