RGD:14729696 Rat Genome Database

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Variant: RGD:14729696 -  Homo sapiens

RGD ID: 14729696
RS ID: rs782352489
ClinVar ID: CV649881
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EMD  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 X 153,609,412
GRCh38 X 154,381,052
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000117.2:c.620G>C
LRG_745t1:c.620G>C
LRG_745:g.11617G>C
NG_008677.1:g.11617G>C
More... 		06/19/2022 missense variant benign|uncertain significance Humeroperoneal neuromuscular disease, (formerly); Muscular dystrophy, tardive Emery-Dreifuss type, with contractures; Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures; Scapuloperoneal syndrome, X-linked (formerly)
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:EMD
Accession:NM_000117
Location:EXON
Amino Acid Prediction: R to P (nonsynonymous)
Amino Acid Position: 207
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDNYADLSDTELTTLLRRYNIPHGPVVGSTRRLYEKKIFEYETQRRRLSPPSSSAASSYSFSDLNSTRGDADMYDLPKKE
DALLYQSKGYNDDYYEESYFTTRTYGEPESAGPSRAVRQSVTSFPDADAFHHQVHDDDLLSSSEEECKDRERPMYGRDSA
YQSITHYRPVSASRSSLDLSYYPTSSSTSFMSSSSSSSSWLTRRAIPPENRAPGAGLGQDRQVPLWGQLLLFLVFVIVLF
FIYHFMQAEEGNPF*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000817065 CLINVAR
  RCV001830790 CLINVAR
dbSNP (RS) rs782352489 CLINVAR
MedGen C0410189 CLINVAR
  C0751337 CLINVAR
NCBI Gene EMD CLINVAR
OMIM 300384 CLINVAR
SNOMED CT 111508004 CLINVAR