Variant #0000574846 (NC_000023.10:g.153640417C>T, TAZ(NM_000116.3):c.110-6C>T)

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.153640417C>T
DNA change (hg38) g.154412080C>T
Published as TAZ(NM_000116.3):c.110-6C>T (, p.(=))
ISCN -
DB-ID DNASE1L1_000028 See all 2 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TAZ NM_000116.3 -?/. - c.110-6C>T r.(=) p.(=)
DNASE1L1 NM_001009932.1 -?/. - c.-620G>A r.(?) p.(=)
RPL10 NM_006013.3 -?/. - c.*11222C>T r.(=) p.(=)