Variant #0000162970 (NC_000006.11:g.(109724312_109740389)_(110012705_110036280)del, NC_000006.11(NM_014845.5):c.(?_-1)_(66+1_67-1)del (FIG4))

Individual ID 00100259
Chromosome 6
Allele Both (homozygous)
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.(109724312_109740389)_(110012705_110036280)del
DNA change (hg38) -
Published as g.109734377_110024284del
ISCN -
DB-ID ZBTB24_000023
Variant remarks -
Reference PubMed: van den Boogaard 2017
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Marlinde L. van den Boogaard
Database submission license No license selected
Created by Marlinde L. van den Boogaard
Date created 2017-02-09 12:13:07 +01:00 (CET)
Date last edited 2019-02-15 11:36:53 +01:00 (CET)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PPIL6 NM_001111298.2 +/. _1_5i c.(?_-1)_(688+1_689-1)del r.0? p.0?
AKD1 NM_001145128.2 +/. _1_43_ c.(?_-1)_(*1_?)del r.0 c.0
SMPD2 NM_003080.2 +/. _1_10_ c.(?_-1)_(*1_?)del r.0 p.0
ZBTB24 NM_014797.2 +/. _1_7_ c.(?_-1)_(*1_?)del r.0 p.0
FIG4 NM_014845.5 +/. _1_1i c.(?_-1)_(66+1_67-1)del r.0? p.0?
MICAL1 NM_022765.3 +/. _1_25_ c.(?_-1)_(*1_?)del r.0 p.0



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000100662 DNA arrayCNV - - - 1 Marlinde L. van den Boogaard


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.