RGD:13537227 Rat Genome Database

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Variant: RGD:13537227 -  Homo sapiens

RGD ID: 13537227
RS ID: rs766124346
ClinVar ID: CV508169
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ARSL  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 2,878,402
GRCh38 X 2,960,361
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_007091.1:g.8910T>C
NC_000023.11:g.2960361A>G
NC_000023.10:g.2878402A>G
NM_001282628.2:c.-189+17T>C
More... 		04/14/2021 intron variant benign|likely benign AllHighlyPenetrant; BRACHYTELEPHALANGIC CHONDRODYSPLASIA PUNCTATA
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ARSL
Accession:NM_001369080
Location:5UTRS;INTRON

Gene Symbol:ARSL
Accession:NM_001282628
Location:5UTRS;INTRON

Gene Symbol:ARSL
Accession:NM_001282631
Location:INTRON

Gene Symbol:ARSL
Accession:XM_047442110
Location:INTRON

Gene Symbol:ARSL
Accession:XM_005274521
Location:INTRON

Gene Symbol:ARSL
Accession:XM_047442109
Location:INTRON

Gene Symbol:ARSL
Accession:NM_000047
Location:INTRON

Gene Symbol:ARSL
Accession:XM_005274519
Location:INTRON

Gene Symbol:ARSL
Accession:NM_001369079
Location:INTRON

Gene Symbol:ARSL
Accession:XM_011545521
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000610109 CLINVAR
  RCV002232599 CLINVAR
dbSNP (RS) rs766124346 CLINVAR
MedGen C1844853 CLINVAR
  CN169374 CLINVAR
NCBI Gene ARSE CLINVAR
OMIM 300180 CLINVAR
  602497 CLINVAR