RGD:10395543 Rat Genome Database

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Variant: RGD:10395543 -  Homo sapiens

RGD ID: 10395543
RS ID: rs8192457
ClinVar ID: CV203844
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ADSL  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 22 40,750,331
GRCh38 22 40,354,327
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000022.11:g.40354327A>G
NC_000022.10:g.40750331A>G
NP_000017.1:p.Gln161Arg
NM_001123378.1:c.482A>G
More... 		01/06/2016 missense variant uncertain significance none provided
Disease Annotations     Click to see Annotation Detail View


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

Gene Symbol:ADSL
Accession:NM_001410816
Location:INTRON

Gene Symbol:ADSL
Accession:XM_017028636
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:ADSL
Accession:NM_001317923
Location:INTRON

Gene Symbol:ADSL
Accession:NM_001123378
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:ADSL
Accession:XM_047441168
Location:INTRON

Gene Symbol:ADSL
Accession:NM_001410812
Location:INTRON

Gene Symbol:ADSL
Accession:NM_001410814
Location:INTRON

Gene Symbol:ADSL
Accession:NM_001363840
Location:INTRON

Gene Symbol:ADSL
Accession:NM_000026
Location:INTRON

Gene Symbol:ADSL
Accession:NR_134256
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000186708 CLINVAR
  RCV001308467 CLINVAR
dbSNP (RS) rs8192457 CLINVAR
MedGen C0268126 CLINVAR
  C3661900 CLINVAR
NCBI Gene ADSL CLINVAR
OMIM 103050 CLINVAR
  608222 CLINVAR
SNOMED CT 15285008 CLINVAR