RGD:405147924 Rat Genome Database

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Variant: RGD:405147924 -  Homo sapiens

RGD ID: 405147924
ClinVar ID: CV2926691
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SMCHD1  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 18 2,739,538
GRCh38 18 2,739,540
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_015295.3:c.3514+20A>C
NG_031972.1:g.88653A>C
NG_031972.2:g.88816A>C
NC_000018.10:g.2739540A>C
More... 		10/23/2023 intron variant likely benign 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  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003538203 CLINVAR
MedGen C1834671 CLINVAR
NCBI Gene SMCHD1 CLINVAR
OMIM 158901 CLINVAR
  614982 CLINVAR