RGD:21073193 Rat Genome Database

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Variant: RGD:21073193 -  Homo sapiens

RGD ID: 21073193
RS ID: rs1600429262
ClinVar ID: CV791983
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MAFB  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 20 39,317,306
GRCh38 20 40,688,666
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_005461.5:c.185C>T
NG_023378.1:g.5571C>T
NC_000020.11:g.40688666G>A
NP_005452.2:p.Thr62Ile
More... 		05/28/2019 missense variant pathogenic 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: T to I (nonsynonymous)
Amino Acid Position: 62
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAELSMGPELPTSPLAMEYVNDFDLLKFDVKKEPLGRAERPGRPCTRLQPAGSVSSTPLSIPCSSVPSSPSFSPTEQKT
HLEDLYWMASNYQQMNPEALNLTPEDAVEALIGSHPVPQPLQSFDSFRGAHHHHHHHHPHPHHAYPGAGVAHDELGPHAH
PHHHHHHQASPPPSSAASPAQQLPTSHPGPGPHATASATAAGGNGSVEDRFSDDQLVSMSVRELNRHLRGFTKDEVIRLK
QKRRTLKNRGYAQSCRYKRVQQKHHLENEKTQLIQQVEQLKQEVSRLARERDAYKVKCEKLANSGFREAGSTSDSPSSPE
FFL*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000990302 CLINVAR
dbSNP (RS) rs1600429262 CLINVAR
MedGen C2674705 CLINVAR
NCBI Gene MAFB CLINVAR
OMIM 166300 CLINVAR
  608968 CLINVAR