FSIP2-AS1
Basic information
Region (hg38): 2:185653303-185864985
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 FSIP2-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 | 41 | 46 | ||||
Total | 0 | 1 | 41 | 4 | 0 |
Variants in FSIP2-AS1
This is a list of pathogenic ClinVar variants found in the FSIP2-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 |
---|---|---|---|---|
2-185738658-A-G | not specified | Uncertain significance (Sep 23, 2023) | ||
2-185738661-C-T | not specified | Uncertain significance (Aug 27, 2024) | ||
2-185738692-C-A | not specified | Uncertain significance (Nov 08, 2022) | ||
2-185738694-C-T | not specified | Uncertain significance (Feb 27, 2024) | ||
2-185738710-G-A | not specified | Uncertain significance (Nov 08, 2024) | ||
2-185738743-G-T | not specified | Uncertain significance (Aug 17, 2022) | ||
2-185738775-G-A | not specified | Uncertain significance (Oct 04, 2022) | ||
2-185738776-G-A | not specified | Uncertain significance (Jan 04, 2022) | ||
2-185738791-T-C | not specified | Likely benign (Feb 21, 2024) | ||
2-185738832-A-C | not specified | Uncertain significance (Mar 01, 2023) | ||
2-185738835-G-A | not specified | Uncertain significance (Jun 28, 2022) | ||
2-185738851-A-G | not specified | Uncertain significance (Feb 27, 2023) | ||
2-185738857-G-A | not specified | Uncertain significance (Sep 01, 2021) | ||
2-185738863-G-T | not specified | Uncertain significance (Mar 02, 2023) | ||
2-185738884-C-T | not specified | Uncertain significance (Oct 24, 2023) | ||
2-185738891-G-A | FSIP2-related disorder | Likely benign (Apr 11, 2019) | ||
2-185738911-G-A | not specified | Uncertain significance (May 18, 2023) | ||
2-185738980-A-G | not specified | Uncertain significance (Oct 30, 2023) | ||
2-185738985-T-C | not specified | Uncertain significance (Feb 14, 2023) | ||
2-185738993-C-T | FSIP2-related disorder | Likely benign (Apr 26, 2019) | ||
2-185739377-G-A | not specified | Uncertain significance (Nov 07, 2022) | ||
2-185739417-G-T | Likely benign (Dec 01, 2022) | |||
2-185739439-G-A | not specified | Likely benign (Jun 10, 2024) | ||
2-185743179-G-A | Uncertain significance (Mar 01, 2021) | |||
2-185743184-T-C | FSIP2-related disorder | Likely benign (Apr 11, 2019) |
GnomAD
Source:
dbNSFP
Source: