RGD:11075190 Rat Genome Database

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Variant: RGD:11075190 -  Homo sapiens

RGD ID: 11075190
RS ID: rs869320655
ClinVar ID: CV227104
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127825014  MMAB  MVK  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 12 110,011,284
GRCh38 12 109,573,479
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_007096.1:g.5019T>C
NC_000012.12:g.109573479A>G
NC_000012.11:g.110011284A>G
p.M1R
More... 		06/23/2022 initiatior codon variant|initiator_codon_variant|missense variant pathogenic childhood Methylmalonic acidemia cblB type; METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN, cblB TYPE; Vitamin B12-responsive methylmalonic acidemia type cblB
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MVK
Accession:XM_017019313
Location:5UTRS;EXON

Gene Symbol:MMAB
Accession:NM_052845
Location:EXON

Gene Symbol:MVK
Accession:XM_047428873
Location:EXON
Amino Acid Prediction: H to P (nonsynonymous)
Amino Acid Position: 65
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATTPRFTAGVRVALPASHSPVPVFHALRAAALETGIQEPGGAEAPAQAKTAPQAKTAPQAAHSPEPGCLTGPDPARFPS
SPRGDSTHSWPRHRSGFPGAMLSEVLLVSAPGKVILHGEHAVVHGKVALAVSLNLRTFLRLQPHSNGKVDLSLPNIGIKR
AWDVARLQSLDTSFLEQGDVTTPTSEQVEKLKEVAGLPDDCAVTERLAVLAFLYLYLSICRKQRALPSLDIVVWSELPPG
AGLGSSAAYSVCLAAALLTVCEEIPNPLKDGDCVNRWTKEDLELINKWAFQGERMIHGNPSGVDNAVSTWGGALRYHQGK
ISSLKRSPALQILLTNTKVPRNTRALVAGVRNRLLKFPEIVAPLLTSIDAISLECERVLGEMGEAPAPEQYLVLEELIDM
NQHHLNALGVGHASLDQLCQVTRARGLHSKLTGAGGGGCGITLLKPGLEQPEVEATKQALTSCGFDCLETSIGAPGVSIH
SATSLDSRVQQALDGL*

Gene Symbol:MMAB
Accession:NR_038118
Location:EXON;NON-CODING

Gene Symbol:MVK
Accession:NM_001414512
Location:INTRON

Gene Symbol:MVK
Accession:NM_001114185
Location:INTRON

Gene Symbol:MVK
Accession:NM_000431
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:MMAB
Accession:XM_011538267
Location:INTRON

Gene Symbol:MVK
Accession:NM_001414514
Location:INTRON

Gene Symbol:MVK
Accession:NM_001414515
Location:INTRON

Gene Symbol:MVK
Accession:XM_017019314
Location:INTRON

Gene Symbol:MVK
Accession:NM_001414513
Location:INTRON

Gene Symbol:MMAB
Accession:XM_047428770
Location:INTRON

Gene Symbol:MVK
Accession:NM_001414511
Location:INTRON

Gene Symbol:MVK
Accession:NM_001301182
Location:INTRON

Gene Symbol:MMAB
Accession:XM_011538269
Location:INTRON

Gene Symbol:MVK
Accession:NR_182760
Location:INTRON;NON-CODING

Gene Symbol:MVK
Accession:NR_182762
Location:INTRON;NON-CODING

Gene Symbol:MVK
Accession:NR_182759
Location:INTRON;NON-CODING

Gene Symbol:MVK
Accession:NR_182758
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:16410054   PMID:20556797   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000210846 CLINVAR
dbSNP (RS) rs869320655 CLINVAR
MedGen C1855102 CLINVAR
NCBI Gene MMAB CLINVAR
  MVK CLINVAR
OMIM 251110 CLINVAR
  251170 CLINVAR
  607568 CLINVAR