RGD:8564173 Rat Genome Database

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Variant: RGD:8564173 -  Homo sapiens

RGD ID: 8564173
RS ID: rs1661117141
ClinVar ID: CV29320
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MTR  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 236,971,838
GRCh38 1 236,808,538
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NC_000001.11:g.236808538A>G
NM_001291939.1:c.340-166A>G
NM_001291940.2:c.-769-166A>G
NM_000254.3:c.340-166A>G
More...
11/17/2023 intron variant pathogenic all ages|variable <1 / 1 000 000 Functional methionine synthase deficiency type cblG; HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblG COMPLEMENTATION TYPE; HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MTR
Accession:NM_001291940
Location:5UTRS;INTRON

Gene Symbol:MTR
Accession:NM_000254
Location:INTRON

Gene Symbol:MTR
Accession:XM_005273141
Location:INTRON

Gene Symbol:MTR
Accession:NM_001291939
Location:INTRON

Gene Symbol:MTR
Accession:XM_011544194
Location:INTRON

Gene Symbol:MTR
Accession:XM_017001330
Location:INTRON

Gene Symbol:MTR
Accession:XM_017001329
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:MTR
Accession:XM_047421186
Location:INTRON

Gene Symbol:MTR
Accession:XM_047421185
Location:INTRON

Gene Symbol:MTR
Accession:XM_047421182
Location:INTRON

Gene Symbol:MTR
Accession:XM_047421183
Location:INTRON

Gene Symbol:MTR
Accession:XM_047421187
Location:INTRON

Gene Symbol:MTR
Accession:NM_001410942
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9683607   PMID:25758715   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000015351 CLINVAR
dbSNP (RS) rs1661117141 CLINVAR
MedGen C1855128 CLINVAR
NCBI Gene MTR CLINVAR
OMIM 156570 CLINVAR
  250940 CLINVAR
OMIM Allele 156570.0004 CLINVAR