Variant #0000311714 (NC_000023.10:g.153641601T>A, TAZ(NM_000116.3):c.284+12T>A)

Chromosome X
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.153641601T>A
DNA change (hg38) g.154413264T>A
Published as TAZ(NM_000116.5):c.284+12T>A
ISCN -
DB-ID TAZ_000210
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TAZ NM_000116.3 -?/. - c.284+12T>A r.(=) p.(=)
DNASE1L1 NM_001009932.1 -?/. - c.-1804A>T r.(?) p.(=)
RPL10 NM_006013.3 -?/. - c.*12406T>A r.(=) p.(=)