Variant #0000052739 (NC_000023.10:g.153640406C>T, TAZ(NM_000116.3):c.110-17C>T)

Individual ID 00029319
Chromosome X
Allele Parent #1
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.153640406C>T
DNA change (hg38) g.154412069=
Published as -
ISCN -
DB-ID TAZ_000021 See all 6 reported entries
Variant remarks -
Reference DB Barth Syndrome Foundation Kiriwn/Gonzalez (Wilmington, USA)
ClinVar ID -
dbSNP ID rs62617809
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.17272 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2015-01-20 16:49:30 +01:00 (CET)
Date last edited N/A
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TAZ NM_000116.3 -/. 1i c.110-17C>T r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000029363 DNA SEQ - - TAZ 1 Johan den Dunnen