RGD:11640188 Rat Genome Database

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Variant: RGD:11640188 -  Homo sapiens

RGD ID: 11640188
RS ID: rs201438159
ClinVar ID: CV266634
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ANO5  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 22,301,083
GRCh38 11 22,279,537
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_868t1:c.2521-7C>T
LRG_868:g.91362C>T
NG_015844.1:g.91362C>T
NC_000011.10:g.22279537C>T
More... 		12/03/2020 intron variant benign|likely benign|uncertain significance AllHighlyPenetrant; Autosomal recessive limb-girdle muscular dystrophy type 2L; GNATHODIAPHYSEAL SCLEROSIS; Levin syndrome 2; Limb-girdle muscular dystrophy, type 2L; Miyoshi myopathy 3; MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 12; none provided; Osteogenesis imperfecta Levin type; Osteogenesis imperfecta with unusual skeletal lesions
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ANO5
Accession:NM_213599
Location:INTRON

Gene Symbol:ANO5
Accession:XM_005252822
Location:INTRON

Gene Symbol:ANO5
Accession:NM_001410964
Location:INTRON

Gene Symbol:ANO5
Accession:XM_011519949
Location:INTRON

Gene Symbol:ANO5
Accession:XM_047426522
Location:INTRON

Gene Symbol:ANO5
Accession:NM_001142649
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:ANO5
Accession:NM_001410963
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV000334336 CLINVAR
  RCV000645364 CLINVAR
  RCV001697703 CLINVAR
  RCV002259763 CLINVAR
  RCV002259764 CLINVAR
  RCV002259765 CLINVAR
dbSNP (RS) rs201438159 CLINVAR
MedGen C1833736 CLINVAR
  C1969785 CLINVAR
  C2750076 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene ANO5 CLINVAR
OMIM 166260 CLINVAR
  608662 CLINVAR
  611307 CLINVAR
  613319 CLINVAR