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
Screenings
|
|