rs11552823 Rat Genome Database

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Variant: rs11552823 - Homo sapiens

RGD ID:

13492150

RS ID:

rs11552823

ClinVar ID:

CV459469

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

CDKN2A

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	9	21,971,116
GRCh38	9	21,971,117

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
LRG_11t1:c.242C>G LRG_11:g.28375C>G NG_007485.1:g.28375C>G NC_000009.12:g.21971117G>C More...	08/03/2023	3 prime utr variant\|missense variant	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|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

familial melanoma (IAGP)

Hereditary Neoplastic Syndromes (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	CDKN2A
Accession:	NM_058197
Location:	3UTRS;EXON

Gene Symbol:	CDKN2A
Accession:	NM_001363763
Location:	EXON
Amino Acid Prediction:	P to R (nonsynonymous)
Amino Acid Position:	30

Amino Acid Sequence (Calculated using NCBI transcript definition)
MMMGSARVAELLLLHGAEPNCADPATLTRRVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEELGHRDVARYLR AAAGGTRGSNHARIDAAEGPSDIPD*

Gene Symbol:	CDKN2A
Accession:	NM_001195132
Location:	EXON
Amino Acid Prediction:	P to R (nonsynonymous)
Amino Acid Position:	81

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEPAAGSSMEPSADWLATAAARGRVEEVRALLEAGALPNAPNSYGRRPIQVMMMGSARVAELLLLHGAEPNCADPATLTR RVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEELGHRDVARYLRAAAGGTRGSNHARIDAAEGPSEMIGNHLW VCRSRHA*

Gene Symbol:	CDKN2A
Accession:	XM_011517675
Location:	EXON
Amino Acid Prediction:	P to R (nonsynonymous)
Amino Acid Position:	81

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEPAAGSSMEPSADWLATAAARGRVEEVRALLEAGALPNAPNSYGRRPIQVMMMGSARVAELLLLHGAEPNCADPATLTR RVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEELGHRDVARYLRAAAGGTRGSNHARIDAAEGPSAGWTNLRI SKPNCAWHHLEISRSRLFCTTQLI*

Gene Symbol:	CDKN2A
Accession:	NM_000077
Location:	EXON
Amino Acid Prediction:	P to R (nonsynonymous)
Amino Acid Position:	81

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEPAAGSSMEPSADWLATAAARGRVEEVRALLEAGALPNAPNSYGRRPIQVMMMGSARVAELLLLHGAEPNCADPATLTR RVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEELGHRDVARYLRAAAGGTRGSNHARIDAAEGPSDIPD*

Gene Symbol:	CDKN2A
Accession:	XM_047422596
Location:	EXON
Amino Acid Prediction:	P to R (nonsynonymous)
Amino Acid Position:	30

Amino Acid Sequence (Calculated using NCBI transcript definition)
MMMGSARVAELLLLHGAEPNCADPATLTRRVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEELGHRDVARYLR AAAGGTRGSNHARIDAAEGPSAGWTNLRISKPNCAWHHLEISRSRLFCTTQLI*

Gene Symbol:	CDKN2A
Accession:	NM_058195
Location:	EXON
Amino Acid Prediction:	T to T (synonymous)
Amino Acid Position:	95

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVRRFLVTLRIRRACGPPRVRVFVVHIPRLTGEWAAPGAPAAVALVLMLLRSQRLGQQPLPRRPGHDDGQRPSGGAAAAP RRGAQLRRPRHSHPTRARRCPGGLPGHAGGAAPGRGAAGRARCLGPSARGPG*

Gene Symbol:	CDKN2A
Accession:	XM_047422597
Location:	EXON
Amino Acid Prediction:	P to R (nonsynonymous)
Amino Acid Position:	30

Amino Acid Sequence (Calculated using NCBI transcript definition)
MMMGSARVAELLLLHGAEPNCADPATLTRRVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEELGHRDVARYLR AAAGGTRGSNHARIDAAEGPSDIPD*

Gene Symbol:	CDKN2A
Accession:	XM_047422598
Location:	EXON
Amino Acid Prediction:	P to R (nonsynonymous)
Amino Acid Position:	30

Amino Acid Sequence (Calculated using NCBI transcript definition)
MMMGSARVAELLLLHGAEPNCADPATLTRRVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEELGHRDVARYLR AAAGGTRGSNHARIDAAEGPSAGWTNLRISKPNCAWHHLEISRSRLFCTTQLI*

Gene Symbol:	CDKN2A
Accession:	XM_011517676
Location:	EXON
Amino Acid Prediction:	P to R (nonsynonymous)
Amino Acid Position:	81

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEPAAGSSMEPSADWLATAAARGRVEEVRALLEAGALPNAPNSYGRRPIQVMMMGSARVAELLLLHGAEPNCADPATLTR RVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEELGHRDVARYLRAAAGGTRGSNHARIDAAEGPSVTASIQVP GGEEGDFGSSYS*

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:9751050	PMID:18023021	PMID:19260062	PMID:21462282	PMID:25741868	PMID:26800492	PMID:26907448	PMID:27804060	PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000534720	CLINVAR
	RCV001015502	CLINVAR
	RCV004719859	CLINVAR
dbSNP (RS)	rs11552823	CLINVAR
MedGen	C0027672	CLINVAR
	C1512419	CLINVAR
	C3661900	CLINVAR
NCBI Gene	CDKN2A	CLINVAR
OMIM	600160	CLINVAR
SNOMED CT	699346009	CLINVAR

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Variant: rs11552823 - Homo sapiens

Imported Disease Annotations - ClinVar