RGD:156299742 Rat Genome Database

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Variant: RGD:156299742 -  Homo sapiens

RGD ID: 156299742
ClinVar ID: CV2069845
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MTR  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 237,016,401
GRCh38 1 236,853,101
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000254.3:c.1953+13G>A
NM_001291939.1:c.1953+13G>A
NM_001291940.2:c.732+13G>A
NG_008959.1:g.62821G>A
More... 		06/18/2022 intron variant likely benign Functional methionine synthase deficiency type cblG; HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblG COMPLEMENTATION TYPE; HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE; HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG TYPE
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MTR
Accession:XM_047421186
Location:INTRON

Gene Symbol:MTR
Accession:XM_017001329
Location:INTRON

Gene Symbol:MTR
Accession:XM_047421183
Location:INTRON

Gene Symbol:MTR
Accession:NM_001410942
Location:INTRON

Gene Symbol:MTR
Accession:NM_000254
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:MTR
Accession:NM_001291939
Location:INTRON

Gene Symbol:MTR
Accession:NM_001291940
Location:INTRON

Gene Symbol:MTR
Accession:XM_017001330
Location:INTRON

Gene Symbol:MTR
Accession:XM_047421187
Location:INTRON

Gene Symbol:MTR
Accession:XM_005273141
Location:INTRON

Gene Symbol:MTR
Accession:XM_047421185
Location:INTRON

Gene Symbol:MTR
Accession:XM_047421182
Location:INTRON

Gene Symbol:MTR
Accession:XM_011544194
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002833564 CLINVAR
MedGen C1855128 CLINVAR
NCBI Gene MTR CLINVAR
OMIM 156570 CLINVAR
  250940 CLINVAR