rs398124294 Rat Genome Database

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Variant: rs398124294 -  Homo sapiens

RGD ID: 8642618
RS ID: rs398124294
ClinVar ID: CV101602
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC129930446  MMACHC  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 45,974,641
GRCh38 1 45,508,969
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.13786T>C
NC_000001.11:g.45508969T>C
NC_000001.10:g.45974641T>C
NP_056321.2:p.(=)
More... 		09/16/2020 synonymous variant likely benign|conflicting interpretations of pathogenicity|uncertain significance 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_001330540
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 144
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFDRALKPFLQSCHLRMLTDPVDQCVAYHLGRVRESLPELQIEIIADYEVHPNRRPKILAQTAAHVAGAAYYYQRQDVEA
DPWGNQRISGVCIHPRFGGWFAIRGVVLLPGIEVPDLPPRKPHDCVPTRADRIALLEGFNFHWRDWTYRDAVTPQERYSE
EQKAYFSTPPAQRLALLGLAQPSEKPSSPSPDLPFTTPAPKKPGNPSRARSWLSPRVSPPASPGP*

Gene Symbol:MMACHC
Accession:NM_015506
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 201
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPKVAELKQKIEDTLCPFGFEVYPFQVAWYNELLPPAFHLPLPGPTLAFLVLSTPAMFDRALKPFLQSCHLRMLTDPVD
QCVAYHLGRVRESLPELQIEIIADYEVHPNRRPKILAQTAAHVAGAAYYYQRQDVEADPWGNQRISGVCIHPRFGGWFAI
RGVVLLPGIEVPDLPPRKPHDCVPTRADRIALLEGFNFHWRDWTYRDAVTPQERYSEEQKAYFSTPPAQRLALLGLAQPS
EKPSSPSPDLPFTTPAPKKPGNPSRARSWLSPRVSPPASPGP*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000081742 CLINVAR
  RCV000664730 CLINVAR
  RCV001273235 CLINVAR
dbSNP (RS) rs398124294 CLINVAR
MedGen C1848561 CLINVAR
  C3661900 CLINVAR
  CN239025 CLINVAR
NCBI Gene LOC129930446 CLINVAR
  MMACHC CLINVAR
OMIM 277400 CLINVAR
  609831 CLINVAR
SNOMED CT 74653006 CLINVAR