rs200895671 Rat Genome Database

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Variant: rs200895671 -  Homo sapiens

RGD ID: 13785827
RS ID: rs200895671
ClinVar ID: CV541246
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MMACHC  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 45,974,603
GRCh38 1 45,508,931
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000001.11:g.45508931C>A
NG_013378.1:g.13748C>A
NC_000001.10:g.45974603C>A
NP_056321.2:p.Arg189Ser
More... 		09/16/2020 missense variant pathogenic|likely pathogenic Cobalamin-C methylmalonic acidemia and homocystinuria; Methylmalonic acidemia and homocystinuria cblC type; methylmalonic aciduria and homocystinuria type cblC; Methylmalonic aciduria and homocystinuria, Vitamin B12-responsive; Methylmalonic aciduria with homocystinuria cblC type; none provided; Vitamin B12 metabolic defect with combined deficiency of methylmalonyl-CoA mutase and homocysteine:methyltetrahydrofolate methyltransferase
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MMACHC
Accession:NM_015506
Location:EXON
Amino Acid Prediction: R to S (nonsynonymous)
Amino Acid Position: 189
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPKVAELKQKIEDTLCPFGFEVYPFQVAWYNELLPPAFHLPLPGPTLAFLVLSTPAMFDRALKPFLQSCHLRMLTDPVD
QCVAYHLGRVRESLPELQIEIIADYEVHPNRRPKILAQTAAHVAGAAYYYQRQDVEADPWGNQRISGVCIHPRFGGWFAI
RGVVLLPGIEVPDLPPRKPHDCVPTRADSIALLEGFNFHWRDWTYRDAVTPQERYSEEQKAYFSTPPAQRLALLGLAQPS
EKPSSPSPDLPFTTPAPKKPGNPSRARSWLSPRVSPPASPGP*

Gene Symbol:MMACHC
Accession:NM_001330540
Location:EXON
Amino Acid Prediction: R to S (nonsynonymous)
Amino Acid Position: 132
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFDRALKPFLQSCHLRMLTDPVDQCVAYHLGRVRESLPELQIEIIADYEVHPNRRPKILAQTAAHVAGAAYYYQRQDVEA
DPWGNQRISGVCIHPRFGGWFAIRGVVLLPGIEVPDLPPRKPHDCVPTRADSIALLEGFNFHWRDWTYRDAVTPQERYSE
EQKAYFSTPPAQRLALLGLAQPSEKPSSPSPDLPFTTPAPKKPGNPSRARSWLSPRVSPPASPGP*
Variant Samples
Additional References at PubMed
PMID:16311595   PMID:18164228   PMID:18245139   PMID:19760748   PMID:24599607   PMID:25741868   PMID:27252276   PMID:28492532   PMID:29294253  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000674997 CLINVAR
  RCV001273232 CLINVAR
  RCV004702309 CLINVAR
dbSNP (RS) rs200895671 CLINVAR
MedGen C1848561 CLINVAR
  C3661900 CLINVAR
  CN239025 CLINVAR
NCBI Gene MMACHC CLINVAR
OMIM 277400 CLINVAR
  609831 CLINVAR
SNOMED CT 74653006 CLINVAR