Variant #0000019461 (NC_000004.11:g.94118165_94124201del, NC_000004.11(NM_001698.2):c.?-30_418-?del (AUH))
Chromosome |
4 |
Allele |
Paternal (inferred) |
Affects function (as reported) |
Effect unknown |
Affects function (by curator) |
Effect unknown |
Classification method |
- |
Clinical classification |
VUS |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.94118165_94124201del |
DNA change (hg38) |
g.93197014_93203050del |
Published as |
- |
ISCN |
- |
DB-ID |
AUH_000013 See all 4 reported entries |
Variant remarks |
deletion of exons 1-3 |
Reference |
PubMed: Mercimek-Mahmutoglu et al. 2011 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Unknown |
Segregation |
? |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Division of Human Genetics, Innsbruck |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2013-05-21 10:29:59 +02:00 (CEST) |
Date last edited |
2020-06-16 13:36:26 +02:00 (CEST) |

Variant on transcripts
Screenings
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