Genomic variant #0000059913

Individual ID 00033098
Chromosome 17
Allele Parent #1
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification -
DNA change (genomic) (Relative to hg19 / GRCh37) g.7919754C>T
DNA change (hg38) g.8016436C>T
Published as -
ISCN -
DB-ID GUCY2D_000006 See all 6 reported entries
Variant remarks predicted benign; not segregating with disease in other family
Reference PubMed: Neveling 2012
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.01576 View details
Owner Kornelia Neveling
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GUCY2D NM_000180.3 -/. 18i c.3225-7C>T r.(spl?) p.(?)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000033166 DNA SEQ;SEQ-NG-S - - GUCY2D, RP1 2 Kornelia Neveling