Variant #0000393923 (NC_000023.10:g.152722604C>A, HAUS7(NM_017518.6):c.467G>T)

Individual ID 00172801
Chromosome X
Allele Parent #1
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.152722604C>A
DNA change (hg38) g.153457146C>A
Published as R156L
ISCN -
DB-ID HAUS7_000014
Variant remarks found once, nonrecurrent change; variant and/or predicted effect could not be not confirmed by curators
Reference PubMed: Tarpey 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 1/208 cases
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Lucy Raymond
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
HAUS7 NM_017518.6 ?/. - c.467G>T r.(?) p.(Ser156Ile)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000173684 DNA SEQ - - TBC1D8B 1 Lucy Raymond