rs761221416 Rat Genome Database

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Variant: rs761221416 -  Homo sapiens

RGD ID: 12892713
RS ID: rs761221416
ClinVar ID: CV404749
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MMACHC  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 45,974,604
GRCh38 1 45,508,932
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NM_001330540.2:c.395G>A
NM_015506.3:c.566G>A
NG_013378.1:g.13749G>A
NC_000001.11:g.45508932G>A
More... 		03/20/2024 missense variant pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance all ages 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; 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 H (nonsynonymous)
Amino Acid Position: 189
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPKVAELKQKIEDTLCPFGFEVYPFQVAWYNELLPPAFHLPLPGPTLAFLVLSTPAMFDRALKPFLQSCHLRMLTDPVD
QCVAYHLGRVRESLPELQIEIIADYEVHPNRRPKILAQTAAHVAGAAYYYQRQDVEADPWGNQRISGVCIHPRFGGWFAI
RGVVLLPGIEVPDLPPRKPHDCVPTRADHIALLEGFNFHWRDWTYRDAVTPQERYSEEQKAYFSTPPAQRLALLGLAQPS
EKPSSPSPDLPFTTPAPKKPGNPSRARSWLSPRVSPPASPGP*

Gene Symbol:MMACHC
Accession:NM_001330540
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 132
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFDRALKPFLQSCHLRMLTDPVDQCVAYHLGRVRESLPELQIEIIADYEVHPNRRPKILAQTAAHVAGAAYYYQRQDVEA
DPWGNQRISGVCIHPRFGGWFAIRGVVLLPGIEVPDLPPRKPHDCVPTRADHIALLEGFNFHWRDWTYRDAVTPQERYSE
EQKAYFSTPPAQRLALLGLAQPSEKPSSPSPDLPFTTPAPKKPGNPSRARSWLSPRVSPPASPGP*
Variant Samples
Additional References at PubMed
PMID:16311595   PMID:18164228   PMID:18245139   PMID:19760748   PMID:24599607   PMID:25741868   PMID:26658511   PMID:28151490   PMID:28492532   PMID:29294253   PMID:32164588   PMID:33931066  
PMID:34389282  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000477781 CLINVAR
dbSNP (RS) rs761221416 CLINVAR
MedGen C1848561 CLINVAR
NCBI Gene MMACHC CLINVAR
OMIM 277400 CLINVAR
  609831 CLINVAR
SNOMED CT 74653006 CLINVAR