Variant #0000172013 (NC_000012.11:g.108961426G>C, ISCU(NM_014301.3):c.343+382G>C)

Individual ID 00105937
Chromosome 12
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Effect unknown
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.108961426G>C
DNA change (hg38) g.108567650G>C
Published as -
ISCN -
DB-ID ISCU_000001 See all 21 reported entries
Variant remarks -
Reference PubMed: Kollberg 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2010-11-14 16:47:50 +01:00 (CET)
Date last edited 2021-06-04 17:29:37 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ISCU NM_014301.3 +/? 5i c.343+382G>C r.[343_344ins343+390_343+489,343_344ins343+390_343+475] p.Met115Lysfs*16



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000106408 DNA SEQ - - ISCU 1 Johan den Dunnen