RGD:14734413 Rat Genome Database

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Variant: RGD:14734413 -  Homo sapiens

RGD ID: 14734413
RS ID: rs4254072
ClinVar ID: CV665834
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ANO5  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 22,257,460
GRCh38 11 22,235,914
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_213599.2:c.649-249C>G
NM_001142649.2:c.646-249C>G
NM_213599.3:c.649-249C>G
NG_015844.1:g.47739C>G
More... 		06/19/2018 intron variant benign none provided

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

Gene Symbol:ANO5
Accession:NM_001142649
Location:INTRON

Gene Symbol:ANO5
Accession:XM_011519949
Location:INTRON

Gene Symbol:ANO5
Accession:NM_001410963
Location:INTRON

Gene Symbol:ANO5
Accession:XM_005252822
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:ANO5
Accession:NM_001410964
Location:INTRON

Gene Symbol:ANO5
Accession:NM_213599
Location:INTRON

Gene Symbol:ANO5
Accession:XM_047426522
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000837546 CLINVAR
dbSNP (RS) rs4254072 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene ANO5 CLINVAR
OMIM 608662 CLINVAR