RGD:14712474 Rat Genome Database

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Variant: RGD:14712474 -  Homo sapiens

RGD ID: 14712474
RS ID: rs1572283994
ClinVar ID: CV650717
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MTR  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 237,025,646
GRCh38 1 236,862,346
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000254.2:c.2304+3A>C
NG_008959.1:g.72066A>C
NC_000001.11:g.236862346A>C
NC_000001.10:g.237025646A>C
More... 		08/27/2018 intron variant uncertain significance 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_001410942
Location:INTRON

Gene Symbol:MTR
Accession:XM_017001330
Location:INTRON

Gene Symbol:MTR
Accession:XM_047421183
Location:INTRON

Gene Symbol:MTR
Accession:XM_047421182
Location:INTRON

Gene Symbol:MTR
Accession:XM_047421186
Location:INTRON

Gene Symbol:MTR
Accession:NM_001291939
Location:INTRON

Gene Symbol:MTR
Accession:XM_017001329
Location:INTRON

Gene Symbol:MTR
Accession:XM_047421187
Location:INTRON

Gene Symbol:MTR
Accession:NM_001291940
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:MTR
Accession:NM_000254
Location:INTRON

Gene Symbol:MTR
Accession:XM_011544194
Location:INTRON

Gene Symbol:MTR
Accession:XM_005273141
Location:INTRON

Gene Symbol:MTR
Accession:XM_047421185
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000820850 CLINVAR
dbSNP (RS) rs1572283994 CLINVAR
MedGen C1855128 CLINVAR
NCBI Gene MTR CLINVAR
OMIM 156570 CLINVAR
  250940 CLINVAR