HTR3E-AS1
Basic information
Region (hg38): 3:184095118-184105178
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- Inborn genetic diseases (7 variants)
- not provided (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the HTR3E-AS1 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 | 8 | |||||
Total | 0 | 0 | 7 | 0 | 1 |
Variants in HTR3E-AS1
This is a list of pathogenic ClinVar variants found in the HTR3E-AS1 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
3-184100385-A-G | not specified | Uncertain significance (Feb 27, 2024) | ||
3-184100470-C-G | not specified | Uncertain significance (Feb 23, 2025) | ||
3-184100584-C-T | not specified | Uncertain significance (Jan 18, 2025) | ||
3-184100595-A-G | not specified | Uncertain significance (Dec 12, 2023) | ||
3-184100601-G-C | not specified | Uncertain significance (Mar 27, 2023) | ||
3-184100608-C-T | not specified | Uncertain significance (Aug 20, 2024) | ||
3-184100628-G-A | Benign (Feb 18, 2020) | |||
3-184100632-T-C | not specified | Uncertain significance (Feb 10, 2025) | ||
3-184104205-C-A | not specified | Likely benign (Apr 08, 2024) | ||
3-184104206-T-C | not specified | Uncertain significance (Oct 27, 2023) | ||
3-184104234-C-T | not specified | Uncertain significance (Aug 01, 2022) | ||
3-184104243-G-A | not specified | Uncertain significance (Jan 09, 2024) | ||
3-184104249-C-T | not specified | Uncertain significance (Feb 07, 2023) | ||
3-184104260-C-G | not specified | Uncertain significance (Jan 12, 2024) | ||
3-184104270-C-A | not specified | Uncertain significance (Mar 20, 2023) | ||
3-184104798-A-G | not specified | Uncertain significance (Aug 02, 2021) | ||
3-184104802-G-C | not specified | Uncertain significance (Feb 27, 2025) | ||
3-184104812-G-A | not specified | Uncertain significance (May 13, 2024) | ||
3-184104827-G-A | not specified | Likely benign (Nov 15, 2024) | ||
3-184104870-T-C | not specified | Uncertain significance (Aug 17, 2022) |
GnomAD
Source:
dbNSFP
Source: