Variant #0000390691 (NC_000001.10:g.216346148A>G, USH2A(NM_206933.2):c.4627+2446T>C)

Individual ID 00170288
Chromosome 1
Allele Paternal (inferred)
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.216346148A>G
DNA change (hg38) g.216172806A>G
Published as -
ISCN -
DB-ID USH2A_000813 See all 7 reported entries
Variant remarks Homozygous
Reference PubMed: Baux 2014
ClinVar ID -
dbSNP ID rs452747
Origin Germline
Segregation -
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     
USH2A NM_206933.2 -/- 21i c.4627+2446T>C r.(=) p.(=) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000171161 DNA SEQ;SEQ-NG-S - - - 37 Anne-Françoise Roux