RGD:14742368 Rat Genome Database

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Variant: RGD:14742368 -  Homo sapiens

RGD ID: 14742368
RS ID: rs377249948
ClinVar ID: CV661179
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DSE  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 6 116,747,722
GRCh38 6 116,426,559
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001322940.2:c.-145-15T>G
NM_001322941.2:c.-145-15T>G
NM_001080976.3:c.417-15T>G
NM_001322937.2:c.417-15T>G
More...
03/26/2018 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:DSE
Accession:NM_001322940
Location:5UTRS;INTRON

Gene Symbol:DSE
Accession:NM_001322941
Location:5UTRS;INTRON

Gene Symbol:DSE
Accession:NM_001374520
Location:5UTRS;INTRON

Gene Symbol:DSE
Accession:NM_001374521
Location:5UTRS;INTRON

Gene Symbol:DSE
Accession:NM_001080976
Location:INTRON

Gene Symbol:DSE
Accession:NM_013352
Location:INTRON

Gene Symbol:DSE
Accession:NM_001322937
Location:INTRON

Gene Symbol:DSE
Accession:NM_001322938
Location:INTRON

Gene Symbol:DSE
Accession:NM_001322939
Location:INTRON

Gene Symbol:DSE
Accession:NM_001322944
Location:INTRON

Gene Symbol:DSE
Accession:NM_001322943
Location:INTRON

Gene Symbol:DSE
Accession:NM_001374522
Location:INTRON

Gene Symbol:DSE
Accession:NR_136520
Location:INTRON;NON-CODING

Gene Symbol:DSE
Accession:NR_136524
Location:INTRON;NON-CODING

Gene Symbol:DSE
Accession:NR_136523
Location:INTRON;NON-CODING

Gene Symbol:DSE
Accession:NR_136522
Location:INTRON;NON-CODING

Gene Symbol:DSE
Accession:NR_136521
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000841341 CLINVAR
dbSNP (RS) rs377249948 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene DSE CLINVAR
OMIM 605942 CLINVAR