Genomic variant #0000130231

Individual ID 00081033
Chromosome 2
Allele Both (homozygous)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.197708788delinsTTGTTTGGGATTAT
DNA change (hg38) g.196844064delinsTTGTTTGGGATTAT
Published as -
ISCN -
DB-ID PGAP1_000006
Variant remarks -
Reference Trujillano et al., submitted
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Daniel Trujillano




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
PGAP1 NM_024989.3 +?/. - c.2349delinsATAATCCCAAACAA ACMG: 4 r.(?) p.(His783Glnfs*2)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000081145 DNA SEQ;SEQ-NG - - PGAP1 1 Daniel Trujillano