Variant #0000630757 (NC_000023.10:g.43817767T>C, NM_000266.3:c.125A>G (NDP))
Individual ID |
00275473 |
Chromosome |
X |
Allele |
Maternal (confirmed) |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.43817767T>C |
DNA change (hg38) |
g.43958521T>C |
Published as |
- |
ISCN |
- |
DB-ID |
NDP_000073 See all 2 reported entries |
Variant remarks |
0/36 control individuals |
Reference |
PubMed: Shastry 1997 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
yes |
Frequency |
4/41 |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
1.0E-5 View details |
Owner |
Jasmine Chen |
Database submission license |
No license selected |
Created by |
Jasmine Chen |
Date created |
2020-01-04 20:13:56 +01:00 (CET) |
Date last edited |
2020-01-10 10:45:24 +01:00 (CET) |

Variant on transcripts
Screenings
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