RGD:8605124 Rat Genome Database

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Variant: RGD:8605124 -  Homo sapiens

RGD ID: 8605124
RS ID: rs147920229
ClinVar ID: CV51448
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EMD  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 153,609,438
GRCh38 X 154,381,078
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008677.1:g.11643G>A
NC_000023.11:g.154381078G>A
NC_000023.10:g.153609438G>A
NP_000108.1:p.Gly216Arg
More... 		12/31/2019 missense|missense variant likely benign|conflicting interpretations of pathogenicity|uncertain significance AllHighlyPenetrant; 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:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 216
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDNYADLSDTELTTLLRRYNIPHGPVVGSTRRLYEKKIFEYETQRRRLSPPSSSAASSYSFSDLNSTRGDADMYDLPKKE
DALLYQSKGYNDDYYEESYFTTRTYGEPESAGPSRAVRQSVTSFPDADAFHHQVHDDDLLSSSEEECKDRERPMYGRDSA
YQSITHYRPVSASRSSLDLSYYPTSSSTSFMSSSSSSSSWLTRRAIRPENRAPGARLGQDRQVPLWGQLLLFLVFVIVLF
FIYHFMQAEEGNPF*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000035111 CLINVAR
  RCV000732781 CLINVAR
  RCV001089148 CLINVAR
  RCV002354186 CLINVAR
dbSNP (RS) rs147920229 CLINVAR
MedGen C0751337 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
  CN230736 CLINVAR
NCBI Gene EMD CLINVAR
OMIM 300384 CLINVAR