RGD:13814776 Rat Genome Database

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Variant: RGD:13814776 -  Homo sapiens

RGD ID: 13814776
RS ID: rs1287464120
ClinVar ID: CV563178
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CDKN2A  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 9 21,994,234
GRCh38 9 21,994,235
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001363763.2:c.-4+586G>T
NM_058195.3:c.97G>T
NC_000009.12:g.21994235C>A
LRG_11t2:c.97G>T
More... 		02/09/2018 intron variant pathogenic Hereditary cutaneous melanoma; Hereditary melanoma
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: E to * (nonsynonymous)
Amino Acid Position: 33
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVRRFLVTLRIRRACGPPRVRVFVVHIPRLTG*WAAPGAPAAVALVLMLLRSQRLGQQPLPRRPGHDDGQRPSGGAAAAP
RRGAQLRRPRHSHPTRARRCPGGLPGHAGGAAPGRGAAGRARCLGPSARGPG*

Gene Symbol:CDKN2A
Accession:XM_047422598
Location:INTRON

Gene Symbol:CDKN2A
Accession:NM_058197
Location:INTRON

Gene Symbol:CDKN2A
Accession:XM_011517676
Location:INTRON

Gene Symbol:CDKN2A
Accession:XM_047422596
Location:INTRON

Gene Symbol:CDKN2A
Accession:NM_000077
Location:INTRON

Gene Symbol:CDKN2A
Accession:NM_001195132
Location:INTRON

Gene Symbol:CDKN2A
Accession:XM_011517675
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000705257 CLINVAR
dbSNP (RS) rs1287464120 CLINVAR
MedGen C1512419 CLINVAR
NCBI Gene CDKN2A CLINVAR
OMIM 600160 CLINVAR