Genomic variant #0000118871

Individual ID 00074349
Chromosome 11
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.22296266C>T
DNA change (hg38) g.22274720C>T
Published as S796L
ISCN -
DB-ID ANO5_000053 See all 9 reported entries
Variant remarks -
Reference Fichna ESHG2016 P10.20
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 1/82 cases LGMD
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00923 View details
Owner Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ANO5 NM_213599.2 ?/. 20 c.2387C>T r.(?) p.(Ser796Leu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000074510 DNA SEQ;SEQ-NG - - ANO5 1 Johan den Dunnen