RGD:405225905 Rat Genome Database

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Variant: RGD:405225905 -  Homo sapiens

RGD ID: 405225905
ClinVar ID: CV2882203
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ADSS1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 14 105,209,402
GRCh38 14 104,743,065
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_199165.2:c.1078-2A>G
NM_001320424.1:c.334-2A>G
NM_152328.5:c.949-2A>G
NG_051175.1:g.23869A>G
More... 		04/15/2023 splice acceptor variant likely pathogenic none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM

Gene Symbol:ADSS1
Accession:NM_152328
Location:INTRON

Gene Symbol:ADSS1
Accession:NM_199165
Location:INTRON

Gene Symbol:ADSS1
Accession:XM_006720026
Location:INTRON

Gene Symbol:ADSS1
Accession:XM_011536412
Location:INTRON

Gene Symbol:ADSS1
Accession:NM_001320424
Location:INTRON

Gene Symbol:ADSS1
Accession:XM_047430917
Location:INTRON

Gene Symbol:ADSS1
Accession:XM_047430916
Location:INTRON

.
PMID:16199547   PMID:26506222   PMID:28492532  



Database
Acc Id
Source(s)
ClinVar RCV003554628 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene ADSS1 CLINVAR
OMIM 612498 CLINVAR