RGD:152087497 Rat Genome Database

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Variant: RGD:152087497 -  Homo sapiens

RGD ID: 152087497
RS ID: rs1303675561
ClinVar ID: CV1590034
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SMCHD1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 18 2,778,151
GRCh38 18 2,778,153
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.5477-16T>C
NG_031972.1:g.127266T>C
NC_000018.10:g.2778153T>C
NC_000018.9:g.2778151T>C
 04/12/2021 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 Transcripts
Gene Symbol:SMCHD1
Accession:NM_015295
Location:INTRON

Gene Symbol:SMCHD1
Accession:XM_011525642
Location:INTRON

Gene Symbol:SMCHD1
Accession:XM_047437427
Location:INTRON

Gene Symbol:SMCHD1
Accession:XM_047437426
Location:INTRON

Gene Symbol:SMCHD1
Accession:XM_047437428
Location:INTRON

Gene Symbol:SMCHD1
Accession:XM_047437429
Location:INTRON

Gene Symbol:SMCHD1
Accession:XM_047437425
Location:INTRON

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

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

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002193830 CLINVAR
dbSNP (RS) rs1303675561 CLINVAR
MedGen C1834671 CLINVAR
NCBI Gene SMCHD1 CLINVAR
OMIM 158901 CLINVAR
  614982 CLINVAR