RGD:15107125 Rat Genome Database

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Variant: RGD:15107125 -  Homo sapiens

RGD ID: 15107125
RS ID: rs546516484
ClinVar ID: CV788258
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DSCAM  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 21 41,505,772
GRCh38 21 40,133,845
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001271534.3:c.3562+9C>T
NM_001389.5:c.3562+9C>T
NC_000021.9:g.40133845G>A
NC_000021.8:g.41505772G>A
More... 		10/23/2018 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:DSCAM
Accession:NM_001389
Location:INTRON

Gene Symbol:DSCAM
Accession:XM_017028281
Location:INTRON

Gene Symbol:DSCAM
Accession:NM_001271534
Location:INTRON

Gene Symbol:DSCAM
Accession:NR_073202
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000976761 CLINVAR
dbSNP (RS) rs546516484 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene DSCAM CLINVAR
OMIM 602523 CLINVAR