Genomic variant #0000126629

Individual ID 00078872
Chromosome 11
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.22239801C>T
DNA change (hg38) g.22218255C>T
Published as -
ISCN -
DB-ID ANO5_000052 See all 2 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Tom Winder




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
ANO5 NM_213599.2 +/. 4 c.148C>T - r.? p.(Arg50*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000079060 DNA PCR;SEQ - - ANO5 2 Tom Winder