RGD:21072020 Rat Genome Database

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Variant: RGD:21072020 -  Homo sapiens

RGD ID: 21072020
RS ID: rs1335126943
ClinVar ID: CV791125
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ANO5  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 22,271,918
GRCh38 11 22,250,372
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_213599.3:c.1013+1G>A
LRG_868:g.62197G>A
NG_015844.1:g.62197G>A
NC_000011.10:g.22250372G>A
More... 		05/28/2019 splice donor variant pathogenic GNATHODIAPHYSEAL SCLEROSIS; Levin syndrome 2; 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:NM_001410963
Location:INTRON

Gene Symbol:ANO5
Accession:XM_011519949
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:ANO5
Accession:XM_005252822
Location:INTRON

Gene Symbol:ANO5
Accession:XM_047426522
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:ANO5
Accession:NM_001142649
Location:INTRON

Gene Symbol:ANO5
Accession:NM_001410964
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000988505 CLINVAR
dbSNP (RS) rs1335126943 CLINVAR
MedGen C1833736 CLINVAR
NCBI Gene ANO5 CLINVAR
OMIM 166260 CLINVAR
  608662 CLINVAR