rs756750256 Rat Genome Database

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Variant: rs756750256 -  Homo sapiens

RGD ID: 11523694
RS ID: rs756750256
ClinVar ID: CV244548
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CDKN2A  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 9 21,971,161
GRCh38 9 21,971,162
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_11t1:c.197A>G
LRG_11:g.28330A>G
NG_007485.1:g.28330A>G
NC_000009.12:g.21971162T>C
More... 		08/15/2023 3 prime utr variant benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance AllHighlyPenetrant; Cancer predisposition; CDKN2A-related condition; 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:XM_011517675
Location:EXON
Amino Acid Prediction: H to R (nonsynonymous)
Amino Acid Position: 66
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPAAGSSMEPSADWLATAAARGRVEEVRALLEAGALPNAPNSYGRRPIQVMMMGSARVAELLLLRGAEPNCADPATLTR
PVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEELGHRDVARYLRAAAGGTRGSNHARIDAAEGPSAGWTNLRI
SKPNCAWHHLEISRSRLFCTTQLI*

Gene Symbol:CDKN2A
Accession:XM_047422596
Location:EXON
Amino Acid Prediction: H to R (nonsynonymous)
Amino Acid Position: 15
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMMGSARVAELLLLRGAEPNCADPATLTRPVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEELGHRDVARYLR
AAAGGTRGSNHARIDAAEGPSAGWTNLRISKPNCAWHHLEISRSRLFCTTQLI*

Gene Symbol:CDKN2A
Accession:NM_058195
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 80
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVRRFLVTLRIRRACGPPRVRVFVVHIPRLTGEWAAPGAPAAVALVLMLLRSQRLGQQPLPRRPGHDDGQRPSGGAAAAP
RRGAQLRRPRHSHPTRARRCPGGLPGHAGGAAPGRGAAGRARCLGPSARGPG*

Gene Symbol:CDKN2A
Accession:XM_011517676
Location:EXON
Amino Acid Prediction: H to R (nonsynonymous)
Amino Acid Position: 66
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPAAGSSMEPSADWLATAAARGRVEEVRALLEAGALPNAPNSYGRRPIQVMMMGSARVAELLLLRGAEPNCADPATLTR
PVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEELGHRDVARYLRAAAGGTRGSNHARIDAAEGPSVTASIQVP
GGEEGDFGSSYS*

Gene Symbol:CDKN2A
Accession:NM_000077
Location:EXON
Amino Acid Prediction: H to R (nonsynonymous)
Amino Acid Position: 66
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPAAGSSMEPSADWLATAAARGRVEEVRALLEAGALPNAPNSYGRRPIQVMMMGSARVAELLLLRGAEPNCADPATLTR
PVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEELGHRDVARYLRAAAGGTRGSNHARIDAAEGPSDIPD*

Gene Symbol:CDKN2A
Accession:XM_047422598
Location:EXON
Amino Acid Prediction: H to R (nonsynonymous)
Amino Acid Position: 15
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMMGSARVAELLLLRGAEPNCADPATLTRPVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEELGHRDVARYLR
AAAGGTRGSNHARIDAAEGPSAGWTNLRISKPNCAWHHLEISRSRLFCTTQLI*

Gene Symbol:CDKN2A
Accession:XM_047422597
Location:EXON
Amino Acid Prediction: H to R (nonsynonymous)
Amino Acid Position: 15
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMMGSARVAELLLLRGAEPNCADPATLTRPVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEELGHRDVARYLR
AAAGGTRGSNHARIDAAEGPSDIPD*

Gene Symbol:CDKN2A
Accession:NM_001195132
Location:EXON
Amino Acid Prediction: H to R (nonsynonymous)
Amino Acid Position: 66
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPAAGSSMEPSADWLATAAARGRVEEVRALLEAGALPNAPNSYGRRPIQVMMMGSARVAELLLLRGAEPNCADPATLTR
PVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEELGHRDVARYLRAAAGGTRGSNHARIDAAEGPSEMIGNHLW
VCRSRHA*

Gene Symbol:CDKN2A
Accession:NM_001363763
Location:EXON
Amino Acid Prediction: H to R (nonsynonymous)
Amino Acid Position: 15
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMMGSARVAELLLLRGAEPNCADPATLTRPVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEELGHRDVARYLR
AAAGGTRGSNHARIDAAEGPSDIPD*
Variant Samples
Additional References at PubMed
PMID:7632931   PMID:7718873   PMID:9133447   PMID:9166859   PMID:9856796   PMID:12894891   PMID:16354195   PMID:16818274   PMID:18519632   PMID:21462282   PMID:25372287   PMID:25741868  
PMID:25846456   PMID:26295973   PMID:26467025   PMID:26474073   PMID:27701467   PMID:27756164   PMID:27960642   PMID:28492532   PMID:28521409   PMID:28599463   PMID:28765326   PMID:29642553  
PMID:31169336  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000236358 CLINVAR
  RCV000461748 CLINVAR
  RCV000564503 CLINVAR
  RCV000988156 CLINVAR
  RCV001705313 CLINVAR
  RCV003907907 CLINVAR
dbSNP (RS) rs756750256 CLINVAR
MedGen C0027672 CLINVAR
  C1512419 CLINVAR
  C1838547 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene CDKN2A CLINVAR
OMIM 600160 CLINVAR
  606719 CLINVAR
SNOMED CT 699346009 CLINVAR