RGD:13518248 Rat Genome Database

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Variant: RGD:13518248 -  Homo sapiens

RGD ID: 13518248
RS ID: rs1209782193
ClinVar ID: CV489264
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EMD  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 153,609,136
GRCh38 X 154,380,776
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_745:g.11341T>G
NP_000108.1:p.Ser141=
NP_000108.1:p.Ser141=
NC_000023.11:g.154380776T>G
More... 		07/14/2021 synonymous variant likely benign|conflicting interpretations of pathogenicity|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:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 141
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDNYADLSDTELTTLLRRYNIPHGPVVGSTRRLYEKKIFEYETQRRRLSPPSSSAASSYSFSDLNSTRGDADMYDLPKKE
DALLYQSKGYNDDYYEESYFTTRTYGEPESAGPSRAVRQSVTSFPDADAFHHQVHDDDLLSSSEEECKDRERPMYGRDSA
YQSITHYRPVSASRSSLDLSYYPTSSSTSFMSSSSSSSSWLTRRAIRPENRAPGAGLGQDRQVPLWGQLLLFLVFVIVLF
FIYHFMQAEEGNPF*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000597174 CLINVAR
  RCV001459224 CLINVAR
dbSNP (RS) rs1209782193 CLINVAR
MedGen C0751337 CLINVAR
  C3661900 CLINVAR
NCBI Gene EMD CLINVAR
OMIM 300384 CLINVAR