RGD:11623513 Rat Genome Database

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Variant: RGD:11623513 -  Homo sapiens

RGD ID: 11623513
RS ID: rs545693248
ClinVar ID: CV335416
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MAFB  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 20 39,315,500
GRCh38 20 40,686,860
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NG_023378.1:g.7377A>G
NC_000020.11:g.40686860T>C
NC_000020.10:g.39315500T>C
NM_005461.5:c.*1019A>G
More... 		01/12/2018 3 prime utr variant benign|likely benign childhood Carnevale Canun Mendoza syndrome; MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME; Multicentric osteolysis nephropathy; Multicentric Osteolysis of Carpal Bones and Nephropathy; MULTICENTRIC OSTEOLYSIS, AUTOSOMAL DOMINANT; OSTEOLYSIS, HEREDITARY, OF CARPAL BONES WITH OR WITHOUT NEPHROPATHY
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MAFB
Accession:NM_005461
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000373690 CLINVAR
dbSNP (RS) rs545693248 CLINVAR
MedGen C2674705 CLINVAR
NCBI Gene MAFB CLINVAR
OMIM 166300 CLINVAR
  608968 CLINVAR