Variant #0000048364 (NC_000023.10:g.152721723C>T, HAUS7(NM_017518.6):c.735G>A)

Individual ID 00025476
Chromosome X
Allele Maternal (confirmed)
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.152721723C>T
DNA change (hg38) g.153456265C>T
Published as -
ISCN -
DB-ID HAUS7_000005
Variant remarks cDNA analysis demonstrated aberrant splicing
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Najim Ameziane
Database submission license No license selected
Created by Najim Ameziane
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
HAUS7 NM_017518.6 +?/. 7 c.735G>A r.spl p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000025480 DNA;RNA RT-PCR;SEQ;SEQ-NG-I blood, lymphosblast - HAUS7 1 Najim Ameziane