STEAP3-AS1
Basic information
Region (hg38): 2:119244422-119270714
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 STEAP3-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 | 17 | 30 | ||||
Total | 0 | 0 | 17 | 8 | 5 |
Variants in STEAP3-AS1
This is a list of pathogenic ClinVar variants found in the STEAP3-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 |
---|---|---|---|---|
2-119245509-A-G | Likely benign (May 03, 2023) | |||
2-119245512-G-T | not specified | Uncertain significance (Feb 05, 2024) | ||
2-119245547-C-T | Likely benign (Oct 01, 2023) | |||
2-119245571-C-T | STEAP3-related disorder | Likely benign (Aug 07, 2023) | ||
2-119245572-G-A | Likely benign (Sep 01, 2022) | |||
2-119245579-C-A | not specified | Uncertain significance (Nov 07, 2024) | ||
2-119245595-C-T | Likely benign (Nov 12, 2023) | |||
2-119245617-C-T | not specified | Uncertain significance (Jan 08, 2025) | ||
2-119245618-G-A | not specified | Uncertain significance (Jul 20, 2022) | ||
2-119245632-C-T | not specified | Uncertain significance (Jul 25, 2024) | ||
2-119245648-G-A | not specified | Uncertain significance (Jun 05, 2024) | ||
2-119245670-C-A | not specified | Uncertain significance (Jan 19, 2022) | ||
2-119245672-G-A | not specified | Uncertain significance (Nov 24, 2024) | ||
2-119245683-C-T | not specified | Uncertain significance (Jan 07, 2025) | ||
2-119245711-C-A | not specified | Uncertain significance (Jul 06, 2021) | ||
2-119245717-T-C | not specified | Uncertain significance (Jan 26, 2025) | ||
2-119245720-C-T | not specified | Uncertain significance (Nov 15, 2024) | ||
2-119245726-A-G | not specified | Uncertain significance (Aug 19, 2024) | ||
2-119245728-G-C | not specified | Uncertain significance (Sep 09, 2024) | ||
2-119245747-C-T | not specified | Uncertain significance (Jan 05, 2025) | ||
2-119245748-G-A | Benign (Jul 20, 2024) | |||
2-119245796-C-A | Severe congenital hypochromic anemia with ringed sideroblasts | Pathogenic (Dec 15, 2011) | ||
2-119245817-G-A | STEAP3-related disorder | Likely benign (Jan 13, 2020) | ||
2-119245845-C-G | not specified | Uncertain significance (Sep 29, 2022) | ||
2-119245873-G-A | not specified | Uncertain significance (Nov 12, 2021) |
GnomAD
Source:
dbNSFP
Source: