RGD:405143384 Rat Genome Database

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Variant: RGD:405143384 -  Homo sapiens

RGD ID: 405143384
ClinVar ID: CV2876628
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SMCHD1  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 18 2,722,672
GRCh38 18 2,722,674
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.2603+11G>T
NG_031972.1:g.71787G>T
NG_031972.2:g.71950G>T
NC_000018.10:g.2722674G>T
More... 		02/18/2023 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 RCV003537741 CLINVAR
MedGen C1834671 CLINVAR
NCBI Gene SMCHD1 CLINVAR
OMIM 158901 CLINVAR
  614982 CLINVAR