Genomic variant #0000000610

Individual ID 00000107
Chromosome 16
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.28493793C>T
DNA change (hg38) g.28482472C>T
Published as INTRON 11, IVS11G>A, CHR16:28401294G>A
ISCN -
DB-ID CLN3_000006 See all 2 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Gerard C.P. Schaafsma




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
CLN3 NM_001042432.1 ?/. - c.906+5G>A - r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000107 DNA SEQ-NG - - ADA, BTD, CLN3, CYP21A2, GLB1, MEFV, MYO5A, NHLRC1, NPHS1, SERPINA1, SLC26A2, WNT10A 14 LOVD-team, but with Curator vacancy