RGD:11659479 Rat Genome Database

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Variant: RGD:11659479 -  Homo sapiens

RGD ID: 11659479
RS ID: rs886044810
ClinVar ID: CV267558
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EMD  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 153,609,166
GRCh38 X 154,380,806
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_745:g.11371C>T
NG_008677.1:g.11371C>T
NC_000023.11:g.154380806C>T
NC_000023.10:g.153609166C>T
More... 		11/09/2021 intron variant uncertain significance Muscular dystrophy, tardive Emery-Dreifuss type, with contractures; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:EMD
Accession:NM_000117
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:21520333   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000358209 CLINVAR
  RCV001315779 CLINVAR
  RCV002328766 CLINVAR
dbSNP (RS) rs886044810 CLINVAR
MedGen C0751337 CLINVAR
  CN230736 CLINVAR
  CN517202 CLINVAR
NCBI Gene EMD CLINVAR
OMIM 300384 CLINVAR