Variant #0000574837 (NC_000023.10:g.153633782A>G, TAZ(NM_000116.3):c.-6399A>G)

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.153633782A>G
DNA change (hg38) g.154405441A>G
Published as DNASE1L1(NM_006730.3):c.128T>C (p.L43S)
ISCN -
DB-ID RPL10_000016
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_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TAZ NM_000116.3 ?/. - c.-6399A>G r.(?) p.(=)
DNASE1L1 NM_001009932.1 ?/. - c.128T>C r.(?) p.(Leu43Ser)
RPL10 NM_006013.3 ?/. - c.*4587A>G r.(=) p.(=)