Variant #0000765235 (NC_000011.9:g.(?_g.17436861)_(17546526_?)del, USH1C(NM_153676.3):c.(104+1_105-1)_*437{0})

Individual ID 00363227
Chromosome 11
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.(?_g.17436861)_(17546526_?)del
DNA change (hg38) 17439772_17546526del
Published as del ex3-27
ISCN -
DB-ID USH1C_000212 See all 2 reported entries
Variant remarks 123kb deletion incl. ABCC8 and USH1C
Reference PubMed: Neuhaus 2017
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Genomic location of variant could not be determined
Owner LOVD
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     

Exon_old     
ABCC8 NM_000352.3 +/. _1_22i c.-126_(2556+1_2557-1){0} r.0? p.0? - -
USH1C NM_153676.3 +/. 2i_27_ c.(104+1_105-1)_*437{0} r.? p.? - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000364455 DNA arrayCGH - - USH1C 1 LOVD