RGD:28901328 Rat Genome Database

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Variant: RGD:28901328 -  Homo sapiens

RGD ID: 28901328
RS ID: rs560409958
ClinVar ID: CV866280
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ADK  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 10 76,468,317
GRCh38 10 74,708,559
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001202449.2:c.*114T>C
NM_001202450.2:c.*114T>C
NM_001369124.1:c.*114T>C
NM_006721.4:c.*114T>C
More... 		01/13/2018 3 prime utr variant 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:XM_047424621
Location:3UTRS;EXON

Gene Symbol:ADK
Accession:NM_001202450
Location:3UTRS;EXON

Gene Symbol:ADK
Accession:NM_001202449
Location:3UTRS;EXON

Gene Symbol:ADK
Accession:XM_017015705
Location:3UTRS;EXON

Gene Symbol:ADK
Accession:XM_017015703
Location:3UTRS;EXON

Gene Symbol:ADK
Accession:XM_017015702
Location:3UTRS;EXON

Gene Symbol:ADK
Accession:XM_017015699
Location:3UTRS;EXON

Gene Symbol:ADK
Accession:NM_001123
Location:3UTRS;EXON

Gene Symbol:ADK
Accession:NM_001369123
Location:3UTRS;EXON

Gene Symbol:ADK
Accession:NM_006721
Location:3UTRS;EXON

Gene Symbol:ADK
Accession:NM_001369124
Location:3UTRS;EXON

Gene Symbol:ADK
Accession:XM_017015706
Location:INTRON

Gene Symbol:ADK
Accession:XM_047424620
Location:INTRON

Gene Symbol:ADK
Accession:XM_017015698
Location:INTRON

Gene Symbol:ADK
Accession:XM_017015704
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001104198 CLINVAR
dbSNP (RS) rs560409958 CLINVAR
MedGen C4706555 CLINVAR
NCBI Gene ADK CLINVAR
OMIM 102750 CLINVAR
  611094 CLINVAR
  614300 CLINVAR