RGD:13502053 Rat Genome Database

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Variant: RGD:13502053 -  Homo sapiens

RGD ID: 13502053
RS ID: rs1554654118
ClinVar ID: CV474897
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CDKN2A  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 9 21,971,125
GRCh38 9 21,971,126
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_058195.4:c.276T>C
LRG_11t1:c.233T>C
LRG_11:g.28366T>C
NG_007485.1:g.28366T>C
More... 		06/21/2017 3 prime utr variant|missense variant uncertain significance Cancer predisposition; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; 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:XM_011517675
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 78
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPAAGSSMEPSADWLATAAARGRVEEVRALLEAGALPNAPNSYGRRPIQVMMMGSARVAELLLLHGAEPNCADPATPTR
PVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEELGHRDVARYLRAAAGGTRGSNHARIDAAEGPSAGWTNLRI
SKPNCAWHHLEISRSRLFCTTQLI*

Gene Symbol:CDKN2A
Accession:XM_047422598
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 27
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMMGSARVAELLLLHGAEPNCADPATPTRPVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEELGHRDVARYLR
AAAGGTRGSNHARIDAAEGPSAGWTNLRISKPNCAWHHLEISRSRLFCTTQLI*

Gene Symbol:CDKN2A
Accession:XM_011517676
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 78
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPAAGSSMEPSADWLATAAARGRVEEVRALLEAGALPNAPNSYGRRPIQVMMMGSARVAELLLLHGAEPNCADPATPTR
PVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEELGHRDVARYLRAAAGGTRGSNHARIDAAEGPSVTASIQVP
GGEEGDFGSSYS*

Gene Symbol:CDKN2A
Accession:XM_047422596
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 27
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMMGSARVAELLLLHGAEPNCADPATPTRPVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEELGHRDVARYLR
AAAGGTRGSNHARIDAAEGPSAGWTNLRISKPNCAWHHLEISRSRLFCTTQLI*

Gene Symbol:CDKN2A
Accession:NM_000077
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 78
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPAAGSSMEPSADWLATAAARGRVEEVRALLEAGALPNAPNSYGRRPIQVMMMGSARVAELLLLHGAEPNCADPATPTR
PVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEELGHRDVARYLRAAAGGTRGSNHARIDAAEGPSDIPD*

Gene Symbol:CDKN2A
Accession:XM_047422597
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 27
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMMGSARVAELLLLHGAEPNCADPATPTRPVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEELGHRDVARYLR
AAAGGTRGSNHARIDAAEGPSDIPD*

Gene Symbol:CDKN2A
Accession:NM_001363763
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 27
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMMGSARVAELLLLHGAEPNCADPATPTRPVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEELGHRDVARYLR
AAAGGTRGSNHARIDAAEGPSDIPD*

Gene Symbol:CDKN2A
Accession:NM_058195
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 92
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVRRFLVTLRIRRACGPPRVRVFVVHIPRLTGEWAAPGAPAAVALVLMLLRSQRLGQQPLPRRPGHDDGQRPSGGAAAAP
RRGAQLRRPRHSHPTRARRCPGGLPGHAGGAAPGRGAAGRARCLGPSARGPG*

Gene Symbol:CDKN2A
Accession:NM_001195132
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 78
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPAAGSSMEPSADWLATAAARGRVEEVRALLEAGALPNAPNSYGRRPIQVMMMGSARVAELLLLHGAEPNCADPATPTR
PVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEELGHRDVARYLRAAAGGTRGSNHARIDAAEGPSEMIGNHLW
VCRSRHA*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000574845 CLINVAR
dbSNP (RS) rs1554654118 CLINVAR
MedGen C0027672 CLINVAR
NCBI Gene CDKN2A CLINVAR
OMIM 600160 CLINVAR
SNOMED CT 699346009 CLINVAR