Variant #0000311720 (NC_000023.10:g.153649044C>T, TAZ(NM_000116.3):c.747C>T)

Chromosome X
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.153649044C>T
DNA change (hg38) g.154420705C>T
Published as TAZ(NM_000116.3):c.747C>T (p.L249=), TAZ(NM_000116.5):c.747C>T (p.L249=)
ISCN -
DB-ID TAZ_000184 See all 4 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) 4.0E-5 View details
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.747C>T r.(?) p.(Leu249=)
DNASE1L1 NM_001009932.1 -?/. - c.-9247G>A r.(?) p.(=)