Variant #0000823625 (NC_000023.10:g.43817758A>C, NM_000266.3:c.134T>G (NDP))
Individual ID |
00391796 |
Chromosome |
X |
Allele |
Maternal (confirmed) |
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.43817758A>C |
DNA change (hg38) |
g.43958512A>C |
Published as |
NDP c.134T>G, p.V45G |
ISCN |
- |
DB-ID |
NDP_000105 |
Variant remarks |
hemizygous |
Reference |
PubMed: Li 2020 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
yes |
Frequency |
- |
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 |
2021-11-19 11:12:21 +01:00 (CET) |
Date last edited |
2021-11-19 11:12:38 +01:00 (CET) |

Variant on transcripts
Screenings
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