RGD:11609016 Rat Genome Database

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Variant: RGD:11609016 -  Homo sapiens

RGD ID: 11609016
RS ID: rs192064997
ClinVar ID: CV311041
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ADK  LOC127818377  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 10 75,936,416
GRCh38 10 74,176,658
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000010.11:g.74176658T>C
NC_000010.10:g.75936416T>C
NM_001369123.1:c.66-24106T>C
NM_006721.4:c.66-24106T>C
More... 		01/13/2018 5 prime utr variant|intron variant likely benign|uncertain significance Hypermethioninemia due to adenosine kinase deficiency; MENTAL RETARDATION, AUTOSOMAL RECESSIVE 8
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ADK
Accession:NM_006721
Location:INTRON

Gene Symbol:ADK
Accession:NM_001202450
Location:INTRON

Gene Symbol:ADK
Accession:NM_001369123
Location:INTRON

Gene Symbol:ADK
Accession:XM_017015699
Location:INTRON

Gene Symbol:ADK
Accession:NM_001369124
Location:INTRON

Gene Symbol:ADK
Accession:NM_001123
Location:INTRON

Gene Symbol:ADK
Accession:NM_001202449
Location:INTRON

Gene Symbol:ADK
Accession:XM_017015704
Location:INTRON

Gene Symbol:ADK
Accession:XM_017015703
Location:INTRON

Gene Symbol:ADK
Accession:XM_047424621
Location:INTRON

Gene Symbol:ADK
Accession:XM_047424620
Location:INTRON

Gene Symbol:ADK
Accession:XM_017015705
Location:INTRON

Gene Symbol:ADK
Accession:XM_017015698
Location:INTRON

Gene Symbol:ADK
Accession:XM_017015702
Location:INTRON

Gene Symbol:ADK
Accession:XM_017015706
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000362746 CLINVAR
dbSNP (RS) rs192064997 CLINVAR
MedGen C4706555 CLINVAR
NCBI Gene ADK CLINVAR
OMIM 102750 CLINVAR
  611094 CLINVAR
  614300 CLINVAR