Variant #0000162970 (NC_000006.11:g.(109724312_109740389)_(110012705_110036280)del, NC_000006.11(NM_014845.5):c.(?_-1)_(66+1_67-1)del (FIG4))
Individual ID |
00100259 |
Chromosome |
6 |
Allele |
Both (homozygous) |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.(109724312_109740389)_(110012705_110036280)del |
DNA change (hg38) |
- |
Published as |
g.109734377_110024284del |
ISCN |
- |
DB-ID |
ZBTB24_000023 |
Variant remarks |
- |
Reference |
PubMed: van den Boogaard 2017 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
yes |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Marlinde L. van den Boogaard |
Database submission license |
No license selected |
Created by |
Marlinde L. van den Boogaard |
Date created |
2017-02-09 12:13:07 +01:00 (CET) |
Date last edited |
2019-02-15 11:36:53 +01:00 (CET) |

Variant on transcripts
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