RGD:405135806 Rat Genome Database

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Variant: RGD:405135806 -  Homo sapiens

RGD ID: 405135806
ClinVar ID: CV2999924
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MTRR  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 5 7,878,333
GRCh38 5 7,878,220
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NR_157168.2:n.731C>G
NR_157173.2:n.745C>G
NR_134480.2:n.757C>G
NR_157177.2:n.766C>G
More... 		02/26/2023 non-coding transcript variant likely benign Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type; HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblE COMPLEMENTATION TYPE; VITAMIN B12-RESPONSIVE HOMOCYSTINURIA, cblE TYPE
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003618781 CLINVAR
MedGen C1856057 CLINVAR
NCBI Gene MTRR CLINVAR
OMIM 236270 CLINVAR
  602568 CLINVAR