RGD:14728706 Rat Genome Database

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Variant: RGD:14728706 -  Homo sapiens

RGD ID: 14728706
RS ID: rs114093530
ClinVar ID: CV666855
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DNM1L  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 12 32,895,390
GRCh38 12 32,742,456
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001278466.2:c.1386-133G>A
NM_005690.5:c.1884-133G>A
NM_012063.4:c.1917-133G>A
NM_001278465.2:c.2001-133G>A
More... 		06/14/2018 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:DNM1L
Accession:NM_005690
Location:INTRON

Gene Symbol:DNM1L
Accession:NM_012062
Location:INTRON

Gene Symbol:DNM1L
Accession:NM_001278466
Location:INTRON

Gene Symbol:DNM1L
Accession:NM_001278464
Location:INTRON

Gene Symbol:DNM1L
Accession:XM_047428047
Location:INTRON

Gene Symbol:DNM1L
Accession:NM_001278463
Location:INTRON

Gene Symbol:DNM1L
Accession:NM_001330380
Location:INTRON

Gene Symbol:DNM1L
Accession:NM_012063
Location:INTRON

Gene Symbol:DNM1L
Accession:NM_001278465
Location:INTRON

Gene Symbol:DNM1L
Accession:XM_011520543
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000834894 CLINVAR
dbSNP (RS) rs114093530 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene DNM1L CLINVAR
OMIM 603850 CLINVAR