Variant #0000188211 (NC_000023.10:g.110967127G>T, NC_000023.10(NM_001099922.2):c.1601+1G>T (ALG13))
Individual ID |
00116898 |
Chromosome |
X |
Allele |
Unknown |
Affects function (as reported) |
Effect unknown |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
VUS |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.110967127G>T |
DNA change (hg38) |
g.111723899G>T |
Published as |
- |
ISCN |
- |
DB-ID |
ALG13_000006 |
Variant remarks |
- |
Reference |
PubMed: Bobbili 2018, Journal: Bobbili 2018 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
1/567 controls |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Dheeraj Bobbili |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2017-08-03 15:16:01 +02:00 (CEST) |
Date last edited |
2024-01-26 01:08:06 +01:00 (CET) |

Variant on transcripts
Screenings
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