Variant #0000188207 (NC_000023.10:g.110951624_110951625insG, ALG13(NM_001099922.2):c.750+3_750+4insG)

Individual ID 00116894
Chromosome X
Allele Unknown
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.110951624_110951625insG
DNA change (hg38) g.111708396_111708397insG
Published as -
ISCN -
DB-ID ALG13_000004
Variant remarks -
Reference PubMed: Bobbili 2018, Journal: Bobbili 2018
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 1/567 controls
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Dheeraj Bobbili
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2017-08-03 15:16:01 +02:00 (CEST)
Date last edited 2020-07-21 08:56:15 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ALG13 NM_001099922.2 ./. - c.750+3_750+4insG r.spl? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000117362 DNA SEQ-NG - - - 2 Dheeraj Bobbili