RGD:11615157 Rat Genome Database

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Variant: RGD:11615157 -  Homo sapiens

RGD ID: 11615157
RS ID: rs192952800
ClinVar ID: CV332307
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DNMT1  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 19 10,244,178
GRCh38 19 10,133,502
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_362:g.102785T>G
NG_028016.3:g.102785T>G
NC_000019.10:g.10133502A>C
NC_000019.9:g.10244178A>C
More... 		01/13/2018 3 prime utr variant likely benign|uncertain significance Hereditary sensory neuropathy type IE; HSN IE; NEUROPATHY, HEREDITARY SENSORY, WITH HEARING LOSS AND DEMENTIA; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:DNMT1
Accession:NM_001379
Location:3UTRS;EXON

Gene Symbol:DNMT1
Accession:NM_001318731
Location:3UTRS;EXON

Gene Symbol:DNMT1
Accession:NM_001318730
Location:3UTRS;EXON

Gene Symbol:DNMT1
Accession:NM_001130823
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000283308 CLINVAR
  RCV003422300 CLINVAR
dbSNP (RS) rs192952800 CLINVAR
MedGen C3279885 CLINVAR
  C3661900 CLINVAR
NCBI Gene DNMT1 CLINVAR
OMIM 126375 CLINVAR
  614116 CLINVAR