Variant #0000079524 (NC_000001.10:g.27022755_27190596dup, ARID1A(NM_006015.4):c.-140_*83349dup)

Individual ID 00050599
Chromosome 1
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.27022755_27190596dup
DNA change (hg38) g.26696264_26864105dup
Published as -
ISCN -
DB-ID ARID1A_000099
Variant remarks increased gene dosage
Reference PubMed: DDDS 2015, Journal: DDDS 2015
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
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     
ARID1A NM_006015.4 ./. - c.-140_*83349dup r.? p.?
SFN NM_006142.3 ./. - c.-166949_*146dup r.0? p.0?
PIGV NM_017837.3 ./. - c.-92062_*66261dup - -
ZDHHC18 NM_032283.2 ./. - c.-130541_*10262dup - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000050544 DNA SEQ;SEQ-NG-I - - ARID1A 1 Johan den Dunnen