Variant #0000730156 (NC_000001.10:g.216595579_216595580insA, USH2A(NM_206933.2):c.99_100insT)

Individual ID 00331649
Chromosome 1
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification pathogenic (recessive)
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 -
Reference PubMed: Sun 2018
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 LOVD
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

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



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000332868 DNA SEQ-NG - - USH2A 2 LOVD