Variant #0000682276 (NC_000023.10:g.153647928C>T, TAZ(NM_000116.3):c.507C>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.153647928C>T
DNA change (hg38) -
Published as TAZ(NM_000116.5):c.507C>T (p.L169=)
ISCN -
DB-ID TAZ_000129 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_Utrecht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Utrecht
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TAZ NM_000116.3 -?/. - c.507C>T r.(?) p.(Leu169=)
DNASE1L1 NM_001009932.1 -?/. - c.-8131G>A r.(?) p.(=)