Variant #0000574847 (NC_000023.10:g.153640455G>C, TAZ(NM_000116.3):c.142G>C)

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>C
DNA change (hg38) g.154412118G>C
Published as TAZ(NM_000116.3):c.142G>C (p.E48Q)
ISCN -
DB-ID RPL10_000023
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) 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.142G>C r.(?) p.(Glu48Gln)
DNASE1L1 NM_001009932.1 ?/. - c.-658C>G r.(?) p.(=)
RPL10 NM_006013.3 ?/. - c.*11260G>C r.(=) p.(=)