Variant #0000374103 (NC_000011.9:g.17431532_17554222del, USH1C(NM_153676.3):c.104+580_*437del)

Individual ID 00165971
Chromosome 11
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.17431532_17554222del
DNA change (hg38) g.17409985_17532675del
Published as 105_2700del
ISCN -
DB-ID USH1C_000034 See all 3 reported entries
Variant remarks -
Reference PubMed: Bitner-Glindzicz 2000
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Anne-Françoise Roux
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anne-Françoise Roux
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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.-216_2694+531del r.0? p.0? - -
USH1C NM_153676.3 +/+ 2i_27_ c.104+580_*437del r.? p.? PDZ 1 (87-155);PDZ 2 (211-281);Coiled coil 1 (323-377);Coiled coil 2 (433-478);Proline rich (515-683);PDZ 3 (752-825) 2_21



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000166850 DNA SEQ - - - 1 Anne-Françoise Roux