Variant #0000311713 (NC_000023.10:g.153641585C>T, TAZ(NM_000116.3):c.280C>T)

Chromosome X
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.153641585C>T
DNA change (hg38) g.154413248C>T
Published as TAZ(NM_000116.5):c.280C>T (p.R94C)
ISCN -
DB-ID TAZ_000007 See all 9 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) Variant not found in online data sets
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TAZ NM_000116.3 +?/. - c.280C>T r.(?) p.(Arg94Cys)
DNASE1L1 NM_001009932.1 +?/. - c.-1788G>A r.(?) p.(=)
RPL10 NM_006013.3 +?/. - c.*12390C>T r.(=) p.(=)