RGD:11658812 Rat Genome Database

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Variant: RGD:11658812 -  Homo sapiens

RGD ID: 11658812
RS ID: rs886044771
ClinVar ID: CV265324
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EMD  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 153,607,847
GRCh38 X 154,379,487
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NM_000117.2:c.3G>A
LRG_745t1:c.3G>A
LRG_745:g.10052G>A
NG_008677.1:g.10052G>A
More... 		11/29/2019 initiatior codon variant|initiator_codon_variant|missense variant pathogenic childhood 1-9 / 1 000 000 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: M to I (nonsynonymous)
Amino Acid Position: 1
Amino Acid Sequence
(Calculated using NCBI transcript definition)
IDNYADLSDTELTTLLRRYNIPHGPVVGSTRRLYEKKIFEYETQRRRLSPPSSSAASSYSFSDLNSTRGDADMYDLPKKE
DALLYQSKGYNDDYYEESYFTTRTYGEPESAGPSRAVRQSVTSFPDADAFHHQVHDDDLLSSSEEECKDRERPMYGRDSA
YQSITHYRPVSASRSSLDLSYYPTSSSTSFMSSSSSSSSWLTRRAIRPENRAPGAGLGQDRQVPLWGQLLLFLVFVIVLF
FIYHFMQAEEGNPF*
Variant Samples
Additional References at PubMed
PMID:7894480   PMID:8595406   PMID:9472006   PMID:10399752   PMID:19997654   PMID:21697856   PMID:26467025   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000518435 CLINVAR
  RCV001068392 CLINVAR
dbSNP (RS) rs886044771 CLINVAR
MedGen C0751337 CLINVAR
  C3661900 CLINVAR
NCBI Gene EMD CLINVAR
OMIM 300384 CLINVAR