RGD:15099643 Rat Genome Database

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Variant: RGD:15099643 -  Homo sapiens

RGD ID: 15099643
RS ID: rs1596852670
ClinVar ID: CV682942
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CREBBP  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 16 3,807,378
GRCh38 16 3,757,377
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001079846.1:c.3496-1G>C
NM_004380.3:c.3610-1G>C
NG_009873.2:g.128337G>C
NC_000016.10:g.3757377C>G
More... 		11/05/2019 splice acceptor variant pathogenic Broad thumbs and great toes, characteristic facies, and mental retardation; Rubinstein syndrome; Rubinstein-Taybi syndrome 1; RUBINSTEIN-TAYBI SYNDROME 1, INCOMPLETE
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CREBBP
Accession:XM_047433625
Location:INTRON

Gene Symbol:CREBBP
Accession:NM_004380
Location:INTRON

Gene Symbol:CREBBP
Accession:XM_011522381
Location:INTRON

Gene Symbol:CREBBP
Accession:XM_047433624
Location:INTRON

Gene Symbol:CREBBP
Accession:NM_001079846
Location:INTRON

Gene Symbol:CREBBP
Accession:XM_006720848
Location:INTRON

Gene Symbol:CREBBP
Accession:XM_011522382
Location:INTRON

Gene Symbol:CREBBP
Accession:XM_005255124
Location:INTRON

Gene Symbol:CREBBP
Accession:XM_005255125
Location:INTRON

Gene Symbol:CREBBP
Accession:XM_017022944
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000856905 CLINVAR
dbSNP (RS) rs1596852670 CLINVAR
MedGen C4551859 CLINVAR
NCBI Gene CREBBP CLINVAR
OMIM 180849 CLINVAR
  600140 CLINVAR