RGD:11641251 Rat Genome Database

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Variant: RGD:11641251 -  Homo sapiens

RGD ID: 11641251
RS ID: rs542259388
ClinVar ID: CV269976
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SMCHD1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 18 2,738,390
GRCh38 18 2,738,392
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.3277-5C>T
NG_031972.1:g.87505C>T
NC_000018.10:g.2738392C>T
NC_000018.9:g.2738390C>T
More... 		12/31/2019 intron variant likely benign|conflicting interpretations of pathogenicity|uncertain significance FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2, DIGENIC; FSHD2, DIGENIC; MUSCULAR DYSTROPHY, FACIOSCAPULOHUMERAL, TYPE 1B; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SMCHD1
Accession:NM_015295
Location:INTRON

Gene Symbol:SMCHD1
Accession:XM_047437429
Location:INTRON

Gene Symbol:SMCHD1
Accession:XM_011525642
Location:INTRON

Gene Symbol:SMCHD1
Accession:XM_047437426
Location:INTRON

Gene Symbol:SMCHD1
Accession:XM_047437428
Location:INTRON

Gene Symbol:SMCHD1
Accession:XM_047437425
Location:INTRON

Gene Symbol:SMCHD1
Accession:XM_047437427
Location:INTRON

Gene Symbol:SMCHD1
Accession:XR_007066135
Location:INTRON;NON-CODING

Gene Symbol:SMCHD1
Accession:XR_001753172
Location:INTRON;NON-CODING

Gene Symbol:SMCHD1
Accession:XR_935055
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000352332 CLINVAR
  RCV001089314 CLINVAR
  RCV003967747 CLINVAR
dbSNP (RS) rs542259388 CLINVAR
MedGen C1834671 CLINVAR
  C3661900 CLINVAR
NCBI Gene SMCHD1 CLINVAR
OMIM 158901 CLINVAR
  614982 CLINVAR