Genomic variant #0000059910

Individual ID 00033139
Chromosome 17
Allele Parent #1
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.7912879C>T
DNA change (hg38) g.8009561C>T
Published as -
ISCN -
DB-ID GUCY2D_000003
Variant remarks predicted to affect function but present at significant fraction in Exome Variant Server; segregates in family
Reference PubMed: Neveling 2012
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.01545 View details
Owner Kornelia Neveling




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
GUCY2D NM_000180.3 +?/. 8 c.1724C>T - r.(?) p.(Pro575Leu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000033207 DNA SEQ;SEQ-NG-S - - GUCY2D 1 Kornelia Neveling