RGD:12906781 Rat Genome Database

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Variant: RGD:12906781 -  Homo sapiens

RGD ID: 12906781
RS ID: rs143023066
ClinVar ID: CV415053
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MMUT  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 6 49,407,986
GRCh38 6 49,440,273
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_007100.1:g.27867G>A
NC_000006.12:g.49440273C>T
NC_000006.11:g.49407986C>T
NP_000246.2:p.Gly630Glu
More... 		09/28/2018 missense variant pathogenic|likely pathogenic Isolated Methylmalonic Acidemia; Methylmalonic aciduria, mut type; none provided
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:MMUT
Accession:NM_000255
Location:EXON
Amino Acid Prediction: G to E (nonsynonymous)
Amino Acid Position: 630
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRAKNQLFLLSPHYLRQVKESSGSRLIQQRLLHQQQPLHPEWAALAKKQLKGKNPEDLIWHTPEGISIKPLYSKRDTMD
LPEELPGVKPFTRGPYPTMYTFRPWTIRQYAGFSTVEESNKFYKDNIKAGQQGLSVAFDLATHRGYDSDNPRVRGDVGMA
GVAIDTVEDTKILFDGIPLEKMSVSMTMNGAVIPVLANFIVTGEEQGVPKEKLTGTIQNDILKEFMVRNTYIFPPEPSMK
IIADIFEYTAKHMPKFNSISISGYHMQEAGADAILELAYTLADGLEYSRTGLQAGLTIDEFAPRLSFFWGIGMNFYMEIA
KMRAGRRLWAHLIEKMFQPKNSKSLLLRAHCQTSGWSLTEQDPYNNIVRTAIEAMAAVFGGTQSLHTNSFDEALGLPTVK
SARIARNTQIIIQEESGIPKVADPWGGSYMMECLTNDVYDAALKLINEIEEMGGMAKAVAEGIPKLRIEECAARRQARID
SGSEVIVGVNKYQLEKEDAVEVLAIDNTSVRNRQIEKLKKIKSSRDQALAERCLAALTECAASGDGNILALAVDASRARC
TVGEITDALKKVFGEHKANDRMVSGAYRQEFGESKEITSAIKRVHKFMEREGRRPRLLVAKMGQDGHDREAKVIATGFAD
LGFDVDIGPLFQTPREVAQQAVDADVHAVGISTLAAGHKTLVPELIKELNSLGRPDILVMCGGVIPPQDYEFLFEVGVSN
VFGPGTRIPKAAVQVLDDIEKCLEKKQQSV*

Gene Symbol:MMUT
Accession:XM_005249143
Location:EXON
Amino Acid Prediction: G to E (nonsynonymous)
Amino Acid Position: 630
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRAKNQLFLLSPHYLRQVKESSGSRLIQQRLLHQQQPLHPEWAALAKKQLKGKNPEDLIWHTPEGISIKPLYSKRDTMD
LPEELPGVKPFTRGPYPTMYTFRPWTIRQYAGFSTVEESNKFYKDNIKAGQQGLSVAFDLATHRGYDSDNPRVRGDVGMA
GVAIDTVEDTKILFDGIPLEKMSVSMTMNGAVIPVLANFIVTGEEQGVPKEKLTGTIQNDILKEFMVRNTYIFPPEPSMK
IIADIFEYTAKHMPKFNSISISGYHMQEAGADAILELAYTLADGLEYSRTGLQAGLTIDEFAPRLSFFWGIGMNFYMEIA
KMRAGRRLWAHLIEKMFQPKNSKSLLLRAHCQTSGWSLTEQDPYNNIVRTAIEAMAAVFGGTQSLHTNSFDEALGLPTVK
SARIARNTQIIIQEESGIPKVADPWGGSYMMECLTNDVYDAALKLINEIEEMGGMAKAVAEGIPKLRIEECAARRQARID
SGSEVIVGVNKYQLEKEDAVEVLAIDNTSVRNRQIEKLKKIKSSRDQALAERCLAALTECAASGDGNILALAVDASRARC
TVGEITDALKKVFGEHKANDRMVSGAYRQEFGESKEITSAIKRVHKFMEREGRRPRLLVAKMGQDGHDREAKVIATGFAD
LGFDVDIGPLFQTPREVAQQAVDADVHAVGISTLAAGHKTLVPELIKELNSLGRPDILVMCGGVIPPQDYEFLFEVGVSN
VFGPGTRIPKAAVQVLDDIEKCLEKKQQSV*
Variant Samples
Additional References at PubMed
PMID:7912889   PMID:8880917   PMID:15643616   PMID:16281286   PMID:17113806   PMID:24865477   PMID:25087612   PMID:25741868   PMID:27167370   PMID:28492532   PMID:28811685   PMID:31622506  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000489642 CLINVAR
  RCV000666698 CLINVAR
  RCV001844176 CLINVAR
dbSNP (RS) rs143023066 CLINVAR
MedGen C0268583 CLINVAR
  C1855114 CLINVAR
  C3661900 CLINVAR
NCBI Gene MUT CLINVAR
OMIM 251000 CLINVAR
  609058 CLINVAR
SNOMED CT 42393006 CLINVAR