HCG21
Basic information
Region (hg38): 6:30945979-30954862
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- Inborn genetic diseases (15 variants)
- not provided (7 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the HCG21 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 | 15 | 22 | ||||
Total | 0 | 0 | 15 | 4 | 3 |
Variants in HCG21
This is a list of pathogenic ClinVar variants found in the HCG21 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
6-30948556-C-T | not specified | Uncertain significance (Apr 27, 2022) | ||
6-30948717-C-T | not specified | Uncertain significance (Jul 06, 2021) | ||
6-30948735-C-T | not specified | Uncertain significance (Oct 12, 2021) | ||
6-30948801-G-A | not specified | Uncertain significance (Dec 22, 2023) | ||
6-30948844-A-G | not specified | Uncertain significance (Nov 08, 2022) | ||
6-30948850-G-T | not specified | Uncertain significance (Aug 02, 2021) | ||
6-30948867-C-T | not specified | Uncertain significance (Nov 03, 2023) | ||
6-30948868-G-A | Benign (May 10, 2018) | |||
6-30948895-A-C | not specified | Uncertain significance (Feb 22, 2023) | ||
6-30948921-G-A | not specified | Uncertain significance (Dec 07, 2021) | ||
6-30948933-C-A | not specified | Uncertain significance (Jun 07, 2023) | ||
6-30948940-C-T | not specified | Uncertain significance (Sep 22, 2022) | ||
6-30948970-G-A | not specified | Likely benign (Dec 08, 2023) | ||
6-30949045-G-A | not specified | Uncertain significance (Mar 15, 2024) | ||
6-30949069-G-A | not specified | Uncertain significance (Mar 07, 2024) | ||
6-30949102-C-T | not specified | Uncertain significance (Nov 03, 2022) | ||
6-30949185-G-A | not specified | Uncertain significance (Dec 09, 2023) | ||
6-30949214-A-C | not specified | Uncertain significance (Apr 28, 2022) | ||
6-30949224-A-G | not specified | Uncertain significance (Mar 02, 2023) | ||
6-30949276-A-G | not specified | Uncertain significance (Jul 19, 2022) | ||
6-30949317-C-G | not specified | Uncertain significance (Mar 19, 2024) | ||
6-30949352-C-A | not specified | Uncertain significance (Nov 09, 2022) | ||
6-30949363-C-A | not specified | Uncertain significance (Nov 16, 2021) | ||
6-30949404-G-A | not specified | Uncertain significance (Apr 07, 2022) | ||
6-30949420-C-A | not specified | Uncertain significance (Apr 09, 2024) |
GnomAD
Source:
dbNSFP
Source: