Variant #0000574868 (NC_000023.10:g.153648606G>T, TAZ(NM_000116.3):c.699+3G>T)

Chromosome X
Allele Unknown
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.153648606G>T
DNA change (hg38) g.154420267G>T
Published as TAZ(NM_001303465.1):c.712+3G>T
ISCN -
DB-ID DNASE1L1_000040
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) Variant not found in online data sets
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TAZ NM_000116.3 ?/. - c.699+3G>T r.spl? p.?
DNASE1L1 NM_001009932.1 ?/. - c.-8809C>A r.(?) p.(=)