Variant #0000505403 (NC_000001.10:g.216595619C>G, USH2A(NM_206933.2):c.60G>C)

Chromosome 1
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.216595619C>G
DNA change (hg38) g.216422277C>G
Published as USH2A(NM_206933.2):c.60G>C (p.L20F)
ISCN -
DB-ID USH2A_001682
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_AMC
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_AMC
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
USH2A NM_206933.2 ?/. - c.60G>C r.(?) p.(Leu20Phe) -