DHCR24-DT
Basic information
Region (hg38): 1:54886800-54992290
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the DHCR24-DT gene is commonly pathogenic or not.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
---|---|---|---|---|---|---|
synonymous | 0 | |||||
missense | 0 | |||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 0 | 0 | 0 |
Variants in DHCR24-DT
This is a list of pathogenic ClinVar variants found in the DHCR24-DT region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
1-54886852-C-T | Likely benign (Jan 16, 2020) | |||
1-54886870-C-G | Benign (Jan 13, 2024) | |||
1-54886899-A-G | Inborn genetic diseases | Uncertain significance (Jun 03, 2024) | ||
1-54886937-G-A | Likely benign (Nov 02, 2021) | |||
1-54886940-G-A | Desmosterolosis | Benign/Likely benign (Jan 29, 2024) | ||
1-54886960-C-A | Uncertain significance (Jul 11, 2022) | |||
1-54886982-G-A | Likely benign (Nov 18, 2023) | |||
1-54886985-G-A | Likely benign (Dec 10, 2022) | |||
1-54886991-C-G | Likely benign (Sep 06, 2022) | |||
1-54886994-G-C | Likely benign (Dec 23, 2021) | |||
1-54887003-G-A | Likely benign (Jun 05, 2022) | |||
1-54887018-G-A | Conflicting classifications of pathogenicity (Jan 06, 2024) | |||
1-54887039-G-A | Desmosterolosis • not specified | Benign/Likely benign (Jan 18, 2024) | ||
1-54887042-C-G | DHCR24-related disorder | Likely benign (Apr 16, 2019) | ||
1-54887045-G-A | Likely benign (Dec 11, 2023) | |||
1-54887047-A-G | Uncertain significance (Sep 22, 2016) | |||
1-54887063-G-A | Likely benign (Mar 01, 2022) | |||
1-54887064-C-CGGCG | not specified | Uncertain significance (Dec 29, 2022) | ||
1-54887068-C-A | Uncertain significance (Oct 11, 2021) | |||
1-54887090-G-A | Likely benign (Jan 17, 2022) | |||
1-54887096-G-A | Likely benign (Mar 25, 2022) | |||
1-54887110-C-T | Uncertain significance (Mar 12, 2022) | |||
1-54887113-GCT-G | Uncertain significance (Jul 18, 2022) | |||
1-54887130-C-T | Desmosterolosis | Uncertain significance (Jan 12, 2018) | ||
1-54887146-C-A | Desmosterolosis | Uncertain significance (Jan 12, 2018) |
GnomAD
Source:
dbNSFP
Source: