SDAD1-AS1
Basic information
Region (hg38): 4:75980790-76005942
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 SDAD1-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 | 13 | 15 | ||||
Total | 0 | 0 | 13 | 0 | 2 |
Variants in SDAD1-AS1
This is a list of pathogenic ClinVar variants found in the SDAD1-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 |
---|---|---|---|---|
4-75981403-T-A | not specified | Uncertain significance (Apr 19, 2024) | ||
4-75981465-A-C | not specified | Uncertain significance (Sep 27, 2022) | ||
4-75981937-G-A | not specified | Uncertain significance (Apr 17, 2024) | ||
4-75982018-T-C | not specified | Uncertain significance (May 24, 2024) | ||
4-75982022-T-C | not specified | Uncertain significance (Apr 25, 2022) | ||
4-75982032-T-C | Benign (Jan 05, 2018) | |||
4-75990801-G-A | not specified | Uncertain significance (Dec 16, 2023) | ||
4-75990821-G-C | not specified | Uncertain significance (Apr 17, 2023) | ||
4-76003601-T-C | Benign (Jun 05, 2018) | |||
4-76003623-C-T | not specified | Uncertain significance (Nov 26, 2024) | ||
4-76003635-C-T | not specified | Uncertain significance (Dec 11, 2023) | ||
4-76003665-T-G | not specified | Uncertain significance (Dec 13, 2023) | ||
4-76003686-T-G | not specified | Uncertain significance (Jun 23, 2023) | ||
4-76004849-G-A | not specified | Uncertain significance (May 17, 2023) | ||
4-76004876-C-G | not specified | Uncertain significance (Jun 16, 2023) |
GnomAD
Source:
dbNSFP
Source: