rs201312386 Rat Genome Database

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Variant: rs201312386 -  Homo sapiens

RGD ID: 10058849
RS ID: rs201312386
ClinVar ID: CV199954
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MMACHC  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 45,974,510
GRCh38 1 45,508,838
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_013378.1:g.13655T>C
NC_000001.11:g.45508838T>C
NC_000001.10:g.45974510T>C
NP_056321.2:p.Phe158Leu
More... 		02/23/2023 missense variant likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance AllHighlyPenetrant; 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; 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: F to L (nonsynonymous)
Amino Acid Position: 158
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPKVAELKQKIEDTLCPFGFEVYPFQVAWYNELLPPAFHLPLPGPTLAFLVLSTPAMFDRALKPFLQSCHLRMLTDPVD
QCVAYHLGRVRESLPELQIEIIADYEVHPNRRPKILAQTAAHVAGAAYYYQRQDVEADPWGNQRISGVCIHPRFGGWLAI
RGVVLLPGIEVPDLPPRKPHDCVPTRADRIALLEGFNFHWRDWTYRDAVTPQERYSEEQKAYFSTPPAQRLALLGLAQPS
EKPSSPSPDLPFTTPAPKKPGNPSRARSWLSPRVSPPASPGP*

Gene Symbol:MMACHC
Accession:NM_001330540
Location:EXON
Amino Acid Prediction: F to L (nonsynonymous)
Amino Acid Position: 101
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFDRALKPFLQSCHLRMLTDPVDQCVAYHLGRVRESLPELQIEIIADYEVHPNRRPKILAQTAAHVAGAAYYYQRQDVEA
DPWGNQRISGVCIHPRFGGWLAIRGVVLLPGIEVPDLPPRKPHDCVPTRADRIALLEGFNFHWRDWTYRDAVTPQERYSE
EQKAYFSTPPAQRLALLGLAQPSEKPSSPSPDLPFTTPAPKKPGNPSRARSWLSPRVSPPASPGP*
Variant Samples
Additional References at PubMed
PMID:23932106   PMID:25741868   PMID:28492532   PMID:30293248   PMID:31555752   PMID:34445196  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000664859 CLINVAR
  RCV001101235 CLINVAR
  RCV001573125 CLINVAR
  RCV001804923 CLINVAR
  RCV002252032 CLINVAR
  RCV002513959 CLINVAR
dbSNP (RS) rs201312386 CLINVAR
MedGen C0950123 CLINVAR
  C1848561 CLINVAR
  C3661900 CLINVAR
  CN043592 CLINVAR
  CN169374 CLINVAR
NCBI Gene MMACHC CLINVAR
OMIM 277400 CLINVAR
  609831 CLINVAR
SNOMED CT 74653006 CLINVAR