RGD:12837686 Rat Genome Database

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Variant: RGD:12837686 -  Homo sapiens

RGD ID: 12837686
RS ID: rs111551747
ClinVar ID: CV370302
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ERMARD  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 6 170,169,624
GRCh38 6 169,769,528
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001278533.2:c.1060-12A>G
NM_001278531.2:c.1060-12A>G
NM_018341.2:c.1060-12A>G
NG_033842.1:g.22907A>G
More... 		08/06/2021 intron variant benign|likely benign AllHighlyPenetrant; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ERMARD
Accession:NM_018341
Location:INTRON

Gene Symbol:ERMARD
Accession:XM_017011030
Location:INTRON

Gene Symbol:ERMARD
Accession:XM_047419019
Location:INTRON

Gene Symbol:ERMARD
Accession:XM_047419021
Location:INTRON

Gene Symbol:ERMARD
Accession:XM_047419020
Location:INTRON

Gene Symbol:ERMARD
Accession:NM_001410957
Location:INTRON

Gene Symbol:ERMARD
Accession:NM_001278531
Location:INTRON

Gene Symbol:ERMARD
Accession:XM_011535938
Location:INTRON

Gene Symbol:ERMARD
Accession:XM_017011031
Location:INTRON

Gene Symbol:ERMARD
Accession:XM_047419018
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:ERMARD
Accession:XM_047419025
Location:INTRON

Gene Symbol:ERMARD
Accession:NM_001278533
Location:INTRON

Gene Symbol:ERMARD
Accession:NM_001278532
Location:INTRON

Gene Symbol:ERMARD
Accession:XM_011535940
Location:INTRON

Gene Symbol:ERMARD
Accession:XM_047419023
Location:INTRON

Gene Symbol:ERMARD
Accession:XM_047419024
Location:INTRON

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV000425586 CLINVAR
  RCV002058915 CLINVAR
  RCV002481312 CLINVAR
dbSNP (RS) rs111551747 CLINVAR
MedGen C3661900 CLINVAR
  C3809872 CLINVAR
  CN169374 CLINVAR
NCBI Gene ERMARD CLINVAR
OMIM 615532 CLINVAR
  615544 CLINVAR