ICAM4-AS1
Basic information
Region (hg38): 19:10285797-10289326
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- Inborn genetic diseases (14 variants)
- Landsteiner-Wiener phenotype (3 variants)
- not provided (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the ICAM4-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 | 16 | 16 | ||||
Total | 0 | 0 | 16 | 0 | 0 |
Variants in ICAM4-AS1
This is a list of pathogenic ClinVar variants found in the ICAM4-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 |
---|---|---|---|---|
19-10287064-C-T | not specified | Uncertain significance (Jan 17, 2023) | ||
19-10287066-G-A | Uncertain significance (-) | |||
19-10287139-G-A | not specified | Uncertain significance (Aug 15, 2023) | ||
19-10287157-T-C | not specified | Uncertain significance (Aug 21, 2023) | ||
19-10287171-C-A | not specified | Uncertain significance (Jan 04, 2022) | ||
19-10287194-C-T | not specified | Uncertain significance (Sep 16, 2021) | ||
19-10287311-A-G | Landsteiner-Wiener phenotype | Affects (Aug 15, 1995) | ||
19-10287321-C-A | Landsteiner-Wiener phenotype | Uncertain significance (-) | ||
19-10287356-TGACCTGCGCA-T | Landsteiner-Wiener phenotype | Affects (Apr 01, 1996) | ||
19-10287386-C-T | not specified | Uncertain significance (Nov 01, 2022) | ||
19-10287563-C-T | not specified | Uncertain significance (May 03, 2023) | ||
19-10287578-G-A | not specified | Uncertain significance (Mar 29, 2024) | ||
19-10287586-T-C | not specified | Uncertain significance (Apr 01, 2024) | ||
19-10287605-T-C | not specified | Uncertain significance (Oct 13, 2023) | ||
19-10287620-C-G | not specified | Uncertain significance (Feb 10, 2022) | ||
19-10287631-T-A | not specified | Uncertain significance (Nov 09, 2023) | ||
19-10287649-C-T | not specified | Uncertain significance (Mar 13, 2023) | ||
19-10287685-C-T | not specified | Uncertain significance (Oct 26, 2022) | ||
19-10287727-G-A | not specified | Uncertain significance (Mar 23, 2022) | ||
19-10287757-C-A | not specified | Uncertain significance (Feb 14, 2023) | ||
19-10287763-G-C | ICAM4-related disorder | Likely benign (Feb 08, 2021) | ||
19-10287789-C-T | not specified | Likely benign (Jan 04, 2024) | ||
19-10287815-C-G | not specified | Uncertain significance (Aug 02, 2022) | ||
19-10287819-A-C | not specified | Likely benign (Dec 11, 2023) | ||
19-10287832-A-G | not specified | Uncertain significance (Nov 10, 2022) |
GnomAD
Source:
dbNSFP
Source: