Variant #0000309055 (NC_000023.10:g.153649252_153649258del, TAZ(NM_000116.3):c.788_794del)

Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.153649252_153649258del
DNA change (hg38) g.154420913_154420919del
Published as TAZ(NM_000116.3):c.788_794delGGAAAGC (p.R263Pfs*2)
ISCN -
DB-ID TAZ_000222
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_AMC
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_AMC
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TAZ NM_000116.3 +/. - c.788_794del r.(?) p.(Arg263ProfsTer2)
DNASE1L1 NM_001009932.1 +/. - c.-9459_-9453del r.(?) p.(=)