Variant #0000195713 (NC_000023.10:g.118694313_118694314insTA, NM_022101.3:c.159_160insTA (CXorf56))
Individual ID |
00119120 |
Chromosome |
X |
Allele |
Maternal (confirmed) |
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.118694313_118694314insTA |
DNA change (hg38) |
g.119560350_119560351insTA |
Published as |
- |
ISCN |
- |
DB-ID |
CXorf56_000024 See all 2 reported entries |
Variant remarks |
- |
Reference |
PubMed: Verkerk 2018 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
yes |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Annemieke Verkerk |
Database submission license |
No license selected |
Created by |
Annemieke Verkerk |
Date created |
2017-09-08 10:38:19 +02:00 (CEST) |
Date last edited |
2020-06-02 21:45:39 +02:00 (CEST) |

Variant on transcripts
Screenings
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