RGD:152072027 Rat Genome Database

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Variant: RGD:152072027 -  Homo sapiens

RGD ID: 152072027
RS ID: rs753051067
ClinVar ID: CV1551576
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DNMT1  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 19 10,259,706
GRCh38 19 10,149,030
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001318731.2:c.2224-13C>G
NM_001318730.2:c.2539-13C>G
NM_001379.4:c.2539-13C>G
NM_001130823.3:c.2587-13C>G
More... 		08/02/2021 intron variant likely benign Hereditary sensory neuropathy type IE; HSN IE; NEUROPATHY, HEREDITARY SENSORY, WITH HEARING LOSS AND DEMENTIA
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:DNMT1
Accession:NM_001318730
Location:INTRON

Gene Symbol:DNMT1
Accession:NM_001379
Location:INTRON

Gene Symbol:DNMT1
Accession:NM_001130823
Location:INTRON

Gene Symbol:DNMT1
Accession:NM_001318731
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002075234 CLINVAR
dbSNP (RS) rs753051067 CLINVAR
MedGen C3279885 CLINVAR
NCBI Gene DNMT1 CLINVAR
OMIM 126375 CLINVAR
  614116 CLINVAR