Variant #0000647741 (NC_000001.10:g.55317804G>A, DHCR24(NM_014762.3):c.*102C>T)
Individual ID |
00289884 |
Chromosome |
1 |
Allele |
Parent #1 |
Affects function (as reported) |
Effect unknown |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
VUS |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.55317804G>A |
DNA change (hg38) |
g.54852131G>A |
Published as |
- |
ISCN |
- |
DB-ID |
DHCR24_000010 |
Variant remarks |
19 heterozygous, no homozygous; Clinindb (India) |
Reference |
PubMed: Narang 2020, Journal: Narang 2020 |
ClinVar ID |
- |
dbSNP ID |
rs114267476 |
Origin |
Germline |
Segregation |
- |
Frequency |
19/2795 individuals |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Variant not found in online data sets |
Owner |
Mohammed Faruq |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |

Variant on transcripts
Screenings
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