RGD:405126786 Rat Genome Database

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Variant: RGD:405126786 -  Homo sapiens

RGD ID: 405126786
ClinVar ID: CV3132824
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SMCHD1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 18 2,700,630
GRCh38 18 2,700,632
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000018.10:g.2700632G>A
NC_000018.9:g.2700630G>A
NP_056110.2:p.Arg479Gln
NM_015295.3:c.1436G>A
More... 		05/23/2023 missense variant uncertain significance FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2, DIGENIC; FSHD2, DIGENIC; MUSCULAR DYSTROPHY, FACIOSCAPULOHUMERAL, TYPE 1B
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Samples
Additional References at PubMed
PMID:28492532   PMID:31243061  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003837987 CLINVAR
MedGen C1834671 CLINVAR
NCBI Gene SMCHD1 CLINVAR
OMIM 158901 CLINVAR
  614982 CLINVAR