HEIH
Basic information
Region (hg38): 5:180824604-180861858
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 HEIH 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 HEIH
This is a list of pathogenic ClinVar variants found in the HEIH region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 5-180848809-T-A | not specified | Uncertain significance (Mar 18, 2024) | ||
| 5-180848815-C-T | not specified | Likely benign (Jun 29, 2023) | ||
| 5-180848826-G-A | not specified | Likely benign (Oct 04, 2024) | ||
| 5-180848841-T-C | not specified | Uncertain significance (Oct 19, 2024) | ||
| 5-180848864-A-C | not specified | Uncertain significance (Oct 01, 2024) | ||
| 5-180848920-T-C | not specified | Uncertain significance (Sep 03, 2024) | ||
| 5-180848946-T-C | not specified | Uncertain significance (Aug 02, 2022) | ||
| 5-180849141-T-C | not specified | Uncertain significance (Jan 26, 2025) | ||
| 5-180849175-C-A | not specified | Uncertain significance (Dec 20, 2024) | ||
| 5-180849192-T-C | not specified | Uncertain significance (Sep 30, 2024) | ||
| 5-180849325-G-A | not specified | Uncertain significance (Mar 15, 2024) | ||
| 5-180849369-G-T | not specified | Uncertain significance (Oct 07, 2024) | ||
| 5-180849393-T-C | not specified | Uncertain significance (Dec 07, 2024) | ||
| 5-180849394-G-A | not specified | Likely benign (Feb 08, 2025) | ||
| 5-180849411-T-G | not specified | Uncertain significance (May 26, 2022) | ||
| 5-180849489-C-T | not specified | Uncertain significance (Dec 20, 2022) | ||
| 5-180849519-C-T | not specified | Uncertain significance (Jul 11, 2023) | ||
| 5-180849553-C-T | not specified | Uncertain significance (Jul 09, 2021) | ||
| 5-180849584-C-A | not specified | Uncertain significance (Sep 02, 2024) | ||
| 5-180849585-C-T | not specified | Uncertain significance (Dec 04, 2024) | ||
| 5-180849690-C-T | not specified | Uncertain significance (Oct 06, 2021) | ||
| 5-180849718-C-T | not specified | Uncertain significance (Nov 30, 2022) | ||
| 5-180849742-C-T | not specified | Uncertain significance (Oct 20, 2024) | ||
| 5-180849784-T-G | not specified | Uncertain significance (Feb 28, 2023) | ||
| 5-180849788-T-C | Benign (Aug 02, 2017) |
GnomAD
Source:
dbNSFP
Source: