SEMA3B-AS1
Basic information
Region (hg38): 3:50265974-50276052
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 SEMA3B-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 | 0 | |||||
Total | 0 | 0 | 0 | 0 | 0 |
Variants in SEMA3B-AS1
This is a list of pathogenic ClinVar variants found in the SEMA3B-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 |
---|---|---|---|---|
3-50269247-C-T | SEMA3B-related disorder • not specified | Uncertain significance (Mar 19, 2024) | ||
3-50269248-G-A | SEMA3B-related disorder | Uncertain significance (Aug 23, 2024) | ||
3-50269251-C-A | not specified | Uncertain significance (Jan 09, 2024) | ||
3-50269252-C-T | SEMA3B-related disorder | Likely benign (Jun 28, 2022) | ||
3-50269253-G-A | SEMA3B-related disorder • not specified | Uncertain significance (Feb 08, 2025) | ||
3-50269261-C-T | SEMA3B-related disorder | Likely benign (Jan 12, 2022) | ||
3-50269262-G-T | SEMA3B-related disorder | Uncertain significance (Aug 05, 2024) | ||
3-50269265-G-A | SEMA3B-related disorder • not specified | Likely benign (Jun 21, 2022) | ||
3-50269272-C-T | SEMA3B-related disorder | Uncertain significance (Apr 03, 2024) | ||
3-50269276-C-A | SEMA3B-related disorder | Likely benign (Nov 08, 2022) | ||
3-50269301-C-G | not specified | Uncertain significance (Sep 30, 2021) | ||
3-50269303-G-A | SEMA3B-related disorder | Likely benign (Jan 30, 2023) | ||
3-50269311-C-T | SEMA3B-related disorder | Uncertain significance (Aug 08, 2024) | ||
3-50269312-C-T | SEMA3B-related disorder | Likely benign (May 19, 2021) | ||
3-50269320-G-C | SEMA3B-related disorder | Uncertain significance (Apr 09, 2024) | ||
3-50269320-G-GC | SEMA3B-related disorder | Benign (Jun 17, 2021) | ||
3-50269321-C-G | SEMA3B-related disorder | Likely benign (Jan 22, 2024) | ||
3-50269326-C-G | SEMA3B-related disorder | Uncertain significance (May 10, 2024) | ||
3-50269328-C-T | SEMA3B-related disorder | Likely benign (Mar 29, 2023) | ||
3-50269329-G-A | SEMA3B-related disorder | Uncertain significance (Jul 05, 2024) | ||
3-50269330-C-T | SEMA3B-related disorder | Likely benign (Mar 23, 2024) | ||
3-50269335-G-T | SEMA3B-related disorder | Uncertain significance (Sep 06, 2024) | ||
3-50270164-G-A | SEMA3B-related disorder | Likely benign (Jun 07, 2022) | ||
3-50270172-C-T | not specified | Uncertain significance (Jan 24, 2024) | ||
3-50270182-C-T | SEMA3B-related disorder | Uncertain significance (Jun 06, 2024) |
GnomAD
Source:
dbNSFP
Source: