RGD:11625559 Rat Genome Database

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Variant: RGD:11625559 -  Homo sapiens

RGD ID: 11625559
RS ID: rs774356396
ClinVar ID: CV342468
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DNMT1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 10,250,348
GRCh38 19 10,139,672
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_362:g.96615G>A
NG_028016.3:g.96615G>A
NC_000019.10:g.10139672C>T
NC_000019.9:g.10250348C>T
More... 		03/27/2019 intron variant conflicting interpretations of pathogenicity|uncertain significance 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_001379
Location:INTRON

Gene Symbol:DNMT1
Accession:NM_001318730
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:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001053369 CLINVAR
dbSNP (RS) rs774356396 CLINVAR
MedGen C3279885 CLINVAR
NCBI Gene DNMT1 CLINVAR
OMIM 126375 CLINVAR
  614116 CLINVAR