rs369883781 Rat Genome Database

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Variant: rs369883781 -  Homo sapiens

RGD ID: 11640715
RS ID: rs369883781
ClinVar ID: CV272196
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MMACHC  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 45,973,111
GRCh38 1 45,507,439
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.12256G>A
NC_000001.11:g.45507439G>A
NC_000001.10:g.45973111G>A
NP_056321.2:p.Thr55=
More... 		12/21/2023 5 prime utr variant benign|likely benign 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; 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_001330540
Location:5UTRS;EXON

Gene Symbol:MMACHC
Accession:NM_015506
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 55
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPKVAELKQKIEDTLCPFGFEVYPFQVAWYNELLPPAFHLPLPGPTLAFLVLSTPAMFDRALKPFLQSCHLRMLTDPVD
QCVAYHLGRVRESLPELQIEIIADYEVHPNRRPKILAQTAAHVAGAAYYYQRQDVEADPWGNQRISGVCIHPRFGGWFAI
RGVVLLPGIEVPDLPPRKPHDCVPTRADRIALLEGFNFHWRDWTYRDAVTPQERYSEEQKAYFSTPPAQRLALLGLAQPS
EKPSSPSPDLPFTTPAPKKPGNPSRARSWLSPRVSPPASPGP*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000343048 CLINVAR
  RCV001450797 CLINVAR
dbSNP (RS) rs369883781 CLINVAR
MedGen C1848561 CLINVAR
  CN169374 CLINVAR
NCBI Gene MMACHC CLINVAR
OMIM 277400 CLINVAR
  609831 CLINVAR
SNOMED CT 74653006 CLINVAR