Variant #0000736869 (NC_000004.11:g.111539828_111539830del, NM_153426.2:c.408_410del (PITX2))
Individual ID |
00336009 |
Chromosome |
4 |
Allele |
Parent #1 |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
likely pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.111539828_111539830del |
DNA change (hg38) |
g.110618672_110618674del |
Published as |
- |
ISCN |
- |
DB-ID |
PITX2_000056 See all 2 reported entries |
Variant remarks |
no genotypes reported |
Reference |
PubMed: Sergouniotis 2016 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
1/181 individuals |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
LOVD |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2021-03-10 17:05:56 +01:00 (CET) |
Date last edited |
2021-03-10 18:12:52 +01:00 (CET) |

Variant on transcripts
Screenings
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