Genomic variant #0000000762

Individual ID 00000082
Chromosome 19
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.7586625_7593057del
DNA change (hg38) g.7521739_7528171del
Published as EXONS 1 - 7, DEL6433BP, CHR19:7492622_7499054DEL
ISCN -
DB-ID MCOLN1_000001
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     
MCOLN1 NM_020533.2 ?/. - c.-141-u871_791del - r.(?) p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000082 DNA SEQ-NG - - ATP7B, CPT1A, CYP21A2, ETFB, FAH, GLB1, MCOLN1, MYO5A, NHLRC1, NPC2 11 LOVD-team, but with Curator vacancy