Variant #0000391207 (NC_000001.10:g.216595579_216595580insA, USH2A(NM_206933.2):c.99_100insT)

Individual ID 00170421
Chromosome 1
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.216595579_216595580insA
DNA change (hg38) g.216422237_216422238insA
Published as -
ISCN -
DB-ID USH2A_000889 See all 16 reported entries
Variant remarks Heterozygous
Reference PubMed: Lenassi 2015
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Eva Lenassi
Database submission license No license selected
Created by Eva Lenassi
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
USH2A NM_206933.2 +/+ 2 c.99_100insT r.(?) p.(Arg34Serfs*41) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000171294 DNA SEQ;SEQ-NG-S - - - 2 Eva Lenassi