RGD:13515563 Rat Genome Database

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Variant: RGD:13515563 -  Homo sapiens

RGD ID: 13515563
RS ID: rs1555642277
ClinVar ID: CV492089
Genic Status: GENIC
Type: deletion (SO:0000159) 
Associated Genes: SMCHD1  
Reference Nucleotide: AGTAA
Variant Nucleotide: -----
Position
Assembly Chr Position
GRCh37 18 2,732,490 - 2,732,495
GRCh38 18 2,732,489 - 2,732,494
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.2732492_2732496del
NM_015295.3:c.3276_3276+4del
NG_031972.1:g.81605_81609del
NC_000018.9:g.2732490_2732494del
More... 		10/19/2020 splice donor variant pathogenic 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_047437427
Location:INTRON

Gene Symbol:SMCHD1
Accession:XM_047437426
Location:INTRON

Gene Symbol:SMCHD1
Accession:XM_047437429
Location:INTRON

Gene Symbol:SMCHD1
Accession:XM_047437428
Location:INTRON

Gene Symbol:SMCHD1
Accession:XM_011525642
Location:INTRON

Gene Symbol:SMCHD1
Accession:XM_047437425
Location:INTRON

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

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

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

Variant Samples
Additional References at PubMed
PMID:16199547   PMID:23143600   PMID:25370034   PMID:25741868   PMID:25782668   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000594433 CLINVAR
  RCV001388614 CLINVAR
dbSNP (RS) rs1555642277 CLINVAR
MedGen C1834671 CLINVAR
  C3661900 CLINVAR
NCBI Gene SMCHD1 CLINVAR
OMIM 158901 CLINVAR
  614982 CLINVAR