Variant #0000309056 (NC_000023.10:g.153649337G>A, TAZ(NM_000116.3):c.873G>A)

Chromosome X
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.153649337G>A
DNA change (hg38) g.154420998G>A
Published as TAZ(NM_000116.3):c.873G>A (p.G291=), TAZ(NM_000116.5):c.873G>A (p.G291=), TAZ(NM_001303465.1):c.886G>A (p.G296R)
ISCN -
DB-ID TAZ_000202 See all 6 reported entries
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) 0.00354 View details
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.873G>A r.(?) p.(Gly291=)
DNASE1L1 NM_001009932.1 -/. - c.-9540C>T r.(?) p.(=)