Genomic variant #0000169492

Individual ID 00000030
Chromosome 13
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.101020733G>T
DNA change (hg38) g.100368479G>T
Published as -
ISCN -
DB-ID PCCA_000008 See all 2 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID rs61749895
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00607 View details
Owner Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
PCCA NM_000282.3 ?/. 19 c.1651G>T - r.(?) p.(Val551Phe)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000030 DNA SEQ-NG - - ADA, ATP7B, CPT2, GALC, HEXB, IGHMBP2, NHLRC1, SBDS, SERPINA1, SLC26A2, SMPD1, TTPA, WNT10A 14 LOVD-team, but with Curator vacancy