RGD:28883461 Rat Genome Database

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Variant: RGD:28883461 -  Homo sapiens

RGD ID: 28883461
RS ID: rs1478496155
ClinVar ID: CV886100
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MAFB  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 20 39,317,162
GRCh38 20 40,688,522
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000020.10:g.39317162G>T
NP_005452.2:p.Ala110Glu
NC_000020.11:g.40688522G>T
NM_005461.4:c.329C>A
More... 		01/13/2018 missense variant uncertain significance 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:EXON
Amino Acid Prediction: A to E (nonsynonymous)
Amino Acid Position: 110
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAELSMGPELPTSPLAMEYVNDFDLLKFDVKKEPLGRAERPGRPCTRLQPAGSVSSTPLSTPCSSVPSSPSFSPTEQKT
HLEDLYWMASNYQQMNPEALNLTPEDAVEELIGSHPVPQPLQSFDSFRGAHHHHHHHHPHPHHAYPGAGVAHDELGPHAH
PHHHHHHQASPPPSSAASPAQQLPTSHPGPGPHATASATAAGGNGSVEDRFSDDQLVSMSVRELNRHLRGFTKDEVIRLK
QKRRTLKNRGYAQSCRYKRVQQKHHLENEKTQLIQQVEQLKQEVSRLARERDAYKVKCEKLANSGFREAGSTSDSPSSPE
FFL*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001136927 CLINVAR
dbSNP (RS) rs1478496155 CLINVAR
MedGen C2674705 CLINVAR
NCBI Gene MAFB CLINVAR
OMIM 166300 CLINVAR
  608968 CLINVAR