Variant #0000079538 (NC_000022.10:g.18893563_21464119del, LZTR1(NM_006767.3):c.-2443098_*112482del)
Individual ID |
00050613 |
Chromosome |
22 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
pathogenic (recessive) |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.18893563_21464119del |
DNA change (hg38) |
- |
Published as |
- |
ISCN |
- |
DB-ID |
ARVCF_000003 |
Variant remarks |
decreased gene dosage |
Reference |
PubMed: DDDS 2015, Journal: DDDS 2015 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
De novo |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Variant not found in online data sets |
Owner |
Johan den Dunnen |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |

Variant on transcripts
Screenings
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