RGD:11648461 Rat Genome Database

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Variant: RGD:11648461 -  Homo sapiens

RGD ID: 11648461
RS ID: rs886048138
ClinVar ID: CV327048
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ANO5  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 22,303,604
GRCh38 11 22,282,058
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_868t1:c.*2293G>C
LRG_868:g.93883G>C
NG_015844.1:g.93883G>C
NC_000011.10:g.22282058G>C
More... 		01/13/2018 3 prime utr variant uncertain significance Miyoshi distal myopathy; Miyoshi muscular dystrophy; Muscular dystrophy, distal, late onset, autosomal recessive
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ANO5
Accession:XM_005252822
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:ANO5
Accession:XM_011519949
Location:3UTRS;EXON

Gene Symbol:ANO5
Accession:NM_213599
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:ANO5
Accession:NM_001410963
Location:3UTRS;EXON

Gene Symbol:ANO5
Accession:NM_001410964
Location:3UTRS;EXON

Gene Symbol:ANO5
Accession:NM_001142649
Location:3UTRS;EXON

Gene Symbol:ANO5
Accession:XM_047426522
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000281747 CLINVAR
  RCV000394680 CLINVAR
  RCV001106818 CLINVAR
dbSNP (RS) rs886048138 CLINVAR
MedGen C5553104 CLINVAR
  CN180644 CLINVAR
  CN239352 CLINVAR
NCBI Gene ANO5 CLINVAR
OMIM 608662 CLINVAR