Variant #0000987656 (NC_000023.10:g.43832550C>T, NM_000266.3:c.-208G>A (NDP))
Individual ID |
00451542 |
Chromosome |
X |
Allele |
Both (homozygous) |
Affects function (as reported) |
Effect unknown |
Affects function (by curator) |
Not classified |
Classification method |
ACMG |
Clinical classification |
VUS |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.43832550C>T |
DNA change (hg38) |
g.43973304C>T |
Published as |
- |
ISCN |
- |
DB-ID |
NDP_000121 See all 2 reported entries |
Variant remarks |
ACMG PM1, PP3 |
Reference |
PubMed: Basharat 2024 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
yes |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Rabia Basharat |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2024-06-10 15:00:36 +02:00 (CEST) |
Date last edited |
N/A |

Variant on transcripts
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