RGD:15203278 Rat Genome Database

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Variant: RGD:15203278 -  Homo sapiens

RGD ID: 15203278
RS ID: rs138703544
ClinVar ID: CV778696
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DRP2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 100,509,411
GRCh38 X 101,254,422
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001939.3:c.1978-3C>T
NM_001171184.2:c.1744-3C>T
NG_016403.1:g.39479C>T
NC_000023.11:g.101254422C>T
More...
12/31/2019 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:DRP2
Accession:XM_047441895
Location:INTRON

Gene Symbol:DRP2
Accession:NM_001939
Location:INTRON

Gene Symbol:DRP2
Accession:NM_001171184
Location:INTRON

Gene Symbol:DRP2
Accession:XM_047441894
Location:INTRON

Gene Symbol:DRP2
Accession:XM_017029333
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000958325 CLINVAR
dbSNP (RS) rs138703544 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene DRP2 CLINVAR
OMIM 300052 CLINVAR