RGD:13530220 Rat Genome Database

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Variant: RGD:13530220 -  Homo sapiens

RGD ID: 13530220
RS ID: rs531027742
ClinVar ID: CV498492
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MTR  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 237,024,416
GRCh38 1 236,861,116
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000001.11:g.236861116C>T
NG_008959.1:g.70836C>T
NM_000254.2:c.2044-9C>T
NC_000001.10:g.237024416C>T
More... 		12/11/2017 intron variant benign|likely benign AllHighlyPenetrant; none provided

Variant Details
Variant Transcripts
Gene Symbol:MTR
Accession:NM_000254
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:MTR
Accession:XM_005273141
Location:INTRON

Gene Symbol:MTR
Accession:XM_017001329
Location:INTRON

Gene Symbol:MTR
Accession:XM_047421182
Location:INTRON

Gene Symbol:MTR
Accession:NM_001291940
Location:INTRON

Gene Symbol:MTR
Accession:NM_001291939
Location:INTRON

Gene Symbol:MTR
Accession:XM_011544194
Location:INTRON

Gene Symbol:MTR
Accession:XM_047421186
Location:INTRON

Gene Symbol:MTR
Accession:XM_047421183
Location:INTRON

Gene Symbol:MTR
Accession:XM_047421185
Location:INTRON

Gene Symbol:MTR
Accession:XM_047421187
Location:INTRON

Gene Symbol:MTR
Accession:XM_017001330
Location:INTRON

Gene Symbol:MTR
Accession:NM_001410942
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000606044 CLINVAR
  RCV000949242 CLINVAR
dbSNP (RS) rs531027742 CLINVAR
MedGen CN169374 CLINVAR
  CN517202 CLINVAR
NCBI Gene MTR CLINVAR
OMIM 156570 CLINVAR