RGD:8690878 Rat Genome Database

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Variant: RGD:8690878 -  Homo sapiens

RGD ID: 8690878
RS ID: rs114505859
ClinVar ID: CV140832
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DNM1L  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 32,832,266
GRCh38 12 32,679,332
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_012219.1:g.5130G>T
NC_000012.12:g.32679332G>T
NC_000012.11:g.32832266G>T
NM_012062.3:c.-32G>T
More... 		06/14/2016 5 prime utr variant benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:DNM1L
Accession:NM_001278465
Location:5UTRS;EXON

Gene Symbol:DNM1L
Accession:NM_001278464
Location:5UTRS;EXON

Gene Symbol:DNM1L
Accession:NM_001278466
Location:5UTRS;EXON

Gene Symbol:DNM1L
Accession:NM_012063
Location:5UTRS;EXON

Gene Symbol:DNM1L
Accession:NM_012062
Location:5UTRS;EXON

Gene Symbol:DNM1L
Accession:NM_001330380
Location:5UTRS;EXON

Gene Symbol:DNM1L
Accession:XM_011520543
Location:5UTRS;EXON

Gene Symbol:DNM1L
Accession:NM_005690
Location:5UTRS;EXON

Gene Symbol:DNM1L
Accession:NM_001278463
Location:5UTRS;EXON

Gene Symbol:DNM1L
Accession:XM_047428047
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000124758 CLINVAR
dbSNP (RS) rs114505859 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene DNM1L CLINVAR
OMIM 603850 CLINVAR