Genomic variant #0000048005

Individual ID 00025127
Chromosome 2
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.197712670C>A
DNA change (hg38) g.196847946C>A
Published as -
ISCN -
DB-ID PGAP1_000004
Variant remarks Functional validation in a knockdown model in zebrafish was performed. Morphants were phenotyped for touch-induced and spontaneous locomotion behavior. Average touch-response distance was blunted in 72-hpf larvae. Immediate touch-response trajectory was reduced. Representative kymographs recording fish position over 30-min recording showed reduced movements per recording.
Reference PubMed: Novarino et al.
ClinVar ID -
dbSNP ID rs587777202
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Philippe Campeau




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
PGAP1 NM_024989.3 +/. - c.1952+1G>T - r.spl? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000025129 DNA SEQ-NG - - PGAP1 1 Philippe Campeau