Variant #0000079557 (NC_000023.10:g.71123084_71718505dup, HDAC8(NM_018486.2):c.438-3387_*426820dup)

Individual ID 00050632
Chromosome X
Allele Maternal (confirmed)
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.71123084_71718505dup
DNA change (hg38) g.71903234_72498655dup
Published as -
ISCN -
DB-ID NHSL2_000040
Variant remarks increased gene dosage
Reference PubMed: DDDS 2015, Journal: DDDS 2015
ClinVar ID -
dbSNP ID -
Origin Germline
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     
RPS4X NM_001007.4 ./. - c.-221460_*369437dup - -
NHSL2 NM_001013627.2 ./. - c.-7854_*355081dup - -
RGAG4 NM_001024455.3 ./. - c.-367115_*226144dup - -
CITED1 NM_004143.3 ./. - c.-192244_*398489dup - -
PIN4 NM_006223.3 ./. - c.-278477_*301129dup - -
ERCC6L NM_017669.2 ./. - c.-259744_*301780dup - -
HDAC8 NM_018486.2 ./. _1_11_ c.438-3387_*426820dup - -
RPS26P11 NR_002309.1 ./. - n.-141175_*453681dup r.0? p.0?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000050577 DNA SEQ;SEQ-NG-I - - - 1 Johan den Dunnen