Variant #0000708793 (NC_000011.9:g.22249067C>T, ANO5(NM_213599.2):c.583C>T)

Chromosome 11
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.22249067C>T
DNA change (hg38) -
Published as -
ISCN -
DB-ID ANO5_000296
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID rs149040903
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 5.0E-5 View details
Owner MobiDetails
Database submission license No license selected
Created by MobiDetails
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ANO5 NM_213599.2 +?/. - c.583C>T r.(?) p.(Arg195Trp)