RGD:40906238 Rat Genome Database

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Variant: RGD:40906238 -  Homo sapiens

RGD ID: 40906238
RS ID: rs2067884058
ClinVar ID: CV980095
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EMD  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 X 153,609,282
GRCh38 X 154,380,922
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.11487A>C
NC_000023.11:g.154380922A>C
NM_000117.3:c.490A>C
LRG_745:g.11487A>C
More... 		08/13/2020 missense variant 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: I to L (nonsynonymous)
Amino Acid Position: 164
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDNYADLSDTELTTLLRRYNIPHGPVVGSTRRLYEKKIFEYETQRRRLSPPSSSAASSYSFSDLNSTRGDADMYDLPKKE
DALLYQSKGYNDDYYEESYFTTRTYGEPESAGPSRAVRQSVTSFPDADAFHHQVHDDDLLSSSEEECKDRERPMYGRDSA
YQSLTHYRPVSASRSSLDLSYYPTSSSTSFMSSSSSSSSWLTRRAIRPENRAPGAGLGQDRQVPLWGQLLLFLVFVIVLF
FIYHFMQAEEGNPF*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001279590 CLINVAR
  RCV001309518 CLINVAR
  RCV002339705 CLINVAR
dbSNP (RS) rs2067884058 CLINVAR
MedGen C0410189 CLINVAR
  C0751337 CLINVAR
  CN230736 CLINVAR
NCBI Gene EMD CLINVAR
OMIM 300384 CLINVAR
SNOMED CT 111508004 CLINVAR