Variant #0000830499 (NC_000023.10:g.18676206_18691680del, NC_000023.10(NM_000330.3):c.-1492_53-421del (RS1))
Individual ID |
00397048 |
Chromosome |
X |
Allele |
Maternal (inferred) |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
ACMG |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.18676206_18691680del |
DNA change (hg38) |
g.18658086_18673560del |
Published as |
del ex1 |
ISCN |
- |
DB-ID |
RS1_000422 |
Variant remarks |
- |
Reference |
PubMed: Chen 2020 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline/De novo (untested) |
Segregation |
? |
Frequency |
1/90 cases RS |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
LOVD |
Database submission license |
Creative Commons Attribution 4.0 International |
Created by |
Anna Tracewska |
Date created |
2021-12-19 19:23:13 +01:00 (CET) |
Date last edited |
2024-12-22 10:54:52 +01:00 (CET) |

Variant on transcripts
Screenings
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