RGD:15158096 Rat Genome Database

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Variant: RGD:15158096 -  Homo sapiens

RGD ID: 15158096
RS ID: rs115519582
ClinVar ID: CV731410
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SEZ6L  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 22 26,776,228
GRCh38 22 26,380,262
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001184775.2:c.3007-4G>A
NM_001184777.2:c.2818-4G>A
NM_001184776.2:c.2821-4G>A
NM_001184774.2:c.3013-4G>A
More... 		11/20/2018 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:SEZ6L
Accession:NM_001184776
Location:INTRON

Gene Symbol:SEZ6L
Accession:NM_001184774
Location:INTRON

Gene Symbol:SEZ6L
Accession:NM_021115
Location:INTRON

Gene Symbol:SEZ6L
Accession:NM_001184773
Location:INTRON

Gene Symbol:SEZ6L
Accession:NM_001184777
Location:INTRON

Gene Symbol:SEZ6L
Accession:NM_001184775
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000880944 CLINVAR
dbSNP (RS) rs115519582 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SEZ6L CLINVAR
OMIM 607021 CLINVAR