Variant #0000856453 (NC_000023.10:g.153640181A>G, TAZ(NM_000116.3):c.1A>G)

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.153640181A>G
DNA change (hg38) -
Published as -
ISCN -
DB-ID RPL10_000036
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_Nijmegen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Nijmegen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TAZ NM_000116.3 +?/. - c.1A>G r.(?) p.(Met1?)
DNASE1L1 NM_001009932.1 +?/. - c.-431+47T>C r.(=) p.(=)
RPL10 NM_006013.3 +?/. - c.*10986A>G r.(=) p.(=)