RGD:10055775 Rat Genome Database

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Variant: RGD:10055775 -  Homo sapiens

RGD ID: 10055775
RS ID: rs794729017
ClinVar ID: CV198540
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EMD  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 153,607,909
GRCh38 X 154,379,549
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.10114C>T
NC_000023.11:g.154379549C>T
NC_000023.10:g.153607909C>T
NP_000108.1:p.Pro22Leu
More... 		08/05/2014 missense 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:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 22
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDNYADLSDTELTTLLRRYNILHGPVVGSTRRLYEKKIFEYETQRRRLSPPSSSAASSYSFSDLNSTRGDADMYDLPKKE
DALLYQSKGYNDDYYEESYFTTRTYGEPESAGPSRAVRQSVTSFPDADAFHHQVHDDDLLSSSEEECKDRERPMYGRDSA
YQSITHYRPVSASRSSLDLSYYPTSSSTSFMSSSSSSSSWLTRRAIRPENRAPGAGLGQDRQVPLWGQLLLFLVFVIVLF
FIYHFMQAEEGNPF*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000183448 CLINVAR
  RCV001348561 CLINVAR
dbSNP (RS) rs794729017 CLINVAR
MedGen C0751337 CLINVAR
  C3661900 CLINVAR
NCBI Gene EMD CLINVAR
OMIM 300384 CLINVAR