Genomic variant #0000000859

Individual ID 00000062
Chromosome 2
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.152520370T>A
DNA change (hg38) g.151663856T>A
Published as -
ISCN -
DB-ID NEB_010260
Variant remarks -
Reference -
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 Gerard C.P. Schaafsma




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
NEB NM_001164507.1 ./. - c.5455A>T - r.(?) p.(Lys1819*)
NEB NM_001271208.1 +/. - c.5455A>T - r.(?) p.(Lys1819*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000062 DNA SEQ-NG - - AGXT, ATP7B, CLN3, CYP21A2, ETFB, GALC, GALT, GLB1, HSPG2, IGHMBP2, MEFV, NEB, NPHS1, SERPINA1, SLC26A2, TGM1 16 LOVD-team, but with Curator vacancy