Variant #0000844238 (NC_000017.10:g.7906494_7906499del, NM_000180.3:c.129_134del (GUCY2D))

Individual ID 00406318
Chromosome 17
Allele Parent #2
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.7906494_7906499del
DNA change (hg38) g.8003176_8003181del
Published as GUCY2D Leu42del6bp
ISCN -
DB-ID GUCY2D_000027 See all 7 reported entries
Variant remarks no nucleotide written, extrapolated from protein and databases; most probably deleted nucleotide was meant to be c.129_134del - 3' rule shifts it from Leu 42 to Leu44; heterozygous
Reference PubMed: Jacobson 2012
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-03-28 12:26:21 +02:00 (CEST)
Date last edited 2022-03-28 12:28:13 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GUCY2D NM_000180.3 +?/. - c.129_134del r.(?) p.(Leu44_Leu45del)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000407559 DNA ? - - GUCY2D 2 LOVD


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