Variant #0000000005 (NC_000019.9:g.48342749A>G, CRX(NM_000554.4):c.425A>G)

Individual ID 00000004
Chromosome 19
Allele Parent #1
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.48342749A>G
Reference -
DB-ID CRX_000002
Average frequency (gnomAD v.2.1.1) Retrieve
Owner variome.ir
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by variome.ir
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Classification     
CRX NM_000554.4 +?/+? - c.425A>G r.(?) p.(Tyr142Cys) VUS LP



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000004 DNA SEQ-NG CRX 1 variome.ir