RGD:14734706 Rat Genome Database

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Variant: RGD:14734706 -  Homo sapiens

RGD ID: 14734706
RS ID: rs8192456
ClinVar ID: CV670902
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ADSL  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 22 40,746,212
GRCh38 22 40,350,208
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001317923.2:c.165+173C>T
NM_001123378.3:c.357+173C>T
NM_001363840.3:c.357+173C>T
NM_000026.4:c.357+173C>T
More... 		06/14/2018 intron variant benign none provided

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

Gene Symbol:ADSL
Accession:XM_047441168
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:ADSL
Accession:NM_001410816
Location:INTRON

Gene Symbol:ADSL
Accession:NM_001410814
Location:INTRON

Gene Symbol:ADSL
Accession:NM_000026
Location:INTRON

Gene Symbol:ADSL
Accession:NM_001123378
Location:INTRON

Gene Symbol:ADSL
Accession:NM_001317923
Location:INTRON

Gene Symbol:ADSL
Accession:NM_001410812
Location:INTRON

Gene Symbol:ADSL
Accession:NM_001363840
Location:INTRON

Gene Symbol:ADSL
Accession:XM_017028636
Location:INTRON

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000837677 CLINVAR
dbSNP (RS) rs8192456 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene ADSL CLINVAR
OMIM 608222 CLINVAR