RGD:13530034 Rat Genome Database

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Variant: RGD:13530034 -  Homo sapiens

RGD ID: 13530034
RS ID: rs558306648
ClinVar ID: CV504115
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DNM1L  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 32,884,450
GRCh38 12 32,731,516
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.57314C>T
NC_000012.11:g.32884450C>T
NM_012062.3:c.1356+5C>T
NM_001278465.2:c.1395+5C>T
More... 		11/21/2021 intron variant likely benign|uncertain significance AllHighlyPenetrant; none provided

Variant Details
Variant Transcripts
Gene Symbol:DNM1L
Accession:NM_012062
Location:INTRON

Gene Symbol:DNM1L
Accession:NM_001278465
Location:INTRON

Gene Symbol:DNM1L
Accession:XM_047428047
Location:INTRON

Gene Symbol:DNM1L
Accession:NM_001278463
Location:INTRON

Gene Symbol:DNM1L
Accession:NM_001278464
Location:INTRON

Gene Symbol:DNM1L
Accession:NM_001278466
Location:INTRON

Gene Symbol:DNM1L
Accession:NM_005690
Location:INTRON

Gene Symbol:DNM1L
Accession:XM_011520543
Location:INTRON

Gene Symbol:DNM1L
Accession:NM_012063
Location:INTRON

Gene Symbol:DNM1L
Accession:NM_001330380
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000600540 CLINVAR
  RCV001855230 CLINVAR
  RCV003927998 CLINVAR
dbSNP (RS) rs558306648 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene DNM1L CLINVAR
OMIM 603850 CLINVAR