RGD:11629708 Rat Genome Database

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Variant: RGD:11629708 -  Homo sapiens

RGD ID: 11629708
RS ID: rs573637366
ClinVar ID: CV345225
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MAFB  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 20 39,315,264
GRCh38 20 40,686,624
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.7613C>T
NC_000020.11:g.40686624G>A
NC_000020.10:g.39315264G>A
NM_005461.5:c.*1255C>T
More... 		01/13/2018 3 prime utr variant likely benign|uncertain significance 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 RCV000331819 CLINVAR
dbSNP (RS) rs573637366 CLINVAR
MedGen C2674705 CLINVAR
NCBI Gene MAFB CLINVAR
OMIM 166300 CLINVAR
  608968 CLINVAR