Variant #0000316227 (NC_000023.10:g.153640455G>A, TAZ(NM_000116.3):c.142G>A)

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.153640455G>A
DNA change (hg38) g.154412118G>A
Published as TAZ(NM_000116.3):c.142G>A (p.E48K)
ISCN -
DB-ID TAZ_000207
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_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.142G>A r.(?) p.(Glu48Lys)
DNASE1L1 NM_001009932.1 ?/. - c.-658C>T r.(?) p.(=)
RPL10 NM_006013.3 ?/. - c.*11260G>A r.(=) p.(=)