Genomic variant #0000047868

Individual ID 00025011
Chromosome 2
Allele Maternal (confirmed)
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.197761868C>T
DNA change (hg38) g.196897144G>A
Published as -
ISCN -
DB-ID PGAP1_000002 See all 2 reported entries
Variant remarks -
Reference PubMed: Bosch 2015, Journal: Bosch 2015
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 Danielle Bosch




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
PGAP1 NM_024989.3 -?/. 7 c.914C>T - r.(?) p.(Ala305Val)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000025012 DNA PCR;SEQ;SEQ-NG - - - 4 Danielle Bosch