Genomic variant #0000438323

Individual ID 00207423
Chromosome 19
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.7696362C>T
DNA change (hg38) -
Published as -
ISCN -
DB-ID PET100_000002
Variant remarks -
Reference PubMed: Oláhová 2015
ClinVar ID ClinVar-128250
dbSNP ID rs587779779
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Sze Chern Lim




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
PET100 NM_001171155.1 +/+ 4 c.142C>T - r.(?) p.Gln48*



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000208460 DNA SEQ-NG-I - - - 1 Sze Chern Lim