Variant #0000798014 (NC_000017.10:g.7906439C>T, NM_000180.3:c.74C>T (GUCY2D))

Individual ID 00382551
Chromosome 17
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.7906439C>T
DNA change (hg38) g.8003121C>T
Published as GUCY2D c.2513G>A, p.(Arg838His), c.74C>T, p.(Ser25Phe)
ISCN -
DB-ID GUCY2D_000025 See all 6 reported entries
Variant remarks -
Reference PubMed: Jespersgaar 2019
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation ?
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.0022 View details
Owner LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2021-09-09 12:39:39 +02:00 (CEST)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GUCY2D NM_000180.3 ?/. - c.74C>T r.(?) p.(Ser25Phe)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000383765 DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data GUCY2D 2 LOVD


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