RGD:8605118 Rat Genome Database

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Variant: RGD:8605118 -  Homo sapiens

RGD ID: 8605118
RS ID: rs137977232
ClinVar ID: CV51442
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EMD  LOC127898525  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 153,608,600
GRCh38 X 154,380,240
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.10805A>G
NC_000023.11:g.154380240A>G
NC_000023.10:g.153608600A>G
NP_000108.1:p.Asn91Ser
More... 		12/31/2019 missense|missense variant benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance AllHighlyPenetrant; Cardiomyopathies; Muscular dystrophy, tardive Emery-Dreifuss type, with contractures; none provided
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Cardiomyopathy  (IAGP)

Variant Details
Variant Transcripts
Gene Symbol:EMD
Accession:NM_000117
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 91
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDNYADLSDTELTTLLRRYNIPHGPVVGSTRRLYEKKIFEYETQRRRLSPPSSSAASSYSFSDLNSTRGDADMYDLPKKE
DALLYQSKGYSDDYYEESYFTTRTYGEPESAGPSRAVRQSVTSFPDADAFHHQVHDDDLLSSSEEECKDRERPMYGRDSA
YQSITHYRPVSASRSSLDLSYYPTSSSTSFMSSSSSSSSWLTRRAIRPENRAPGAGLGQDRQVPLWGQLLLFLVFVIVLF
FIYHFMQAEEGNPF*
Variant Samples
Additional References at PubMed
PMID:19377476   PMID:24033266   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000035105 CLINVAR
  RCV000756071 CLINVAR
  RCV000770588 CLINVAR
  RCV001085397 CLINVAR
  RCV002426545 CLINVAR
dbSNP (RS) rs137977232 CLINVAR
MedGen C0751337 CLINVAR
  C0878544 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
  CN230736 CLINVAR
NCBI Gene EMD CLINVAR
OMIM 300384 CLINVAR
SNOMED CT 85898001 CLINVAR