LIMASI
Basic information
Region (hg38): 19:10239048-10290813
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- Inborn genetic diseases (22 variants)
- not provided (13 variants)
- not specified (2 variants)
- Malaria, susceptibility to (2 variants)
- Malaria, cerebral, susceptibility to (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the LIMASI 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 | 23 | 39 | ||||
Total | 0 | 0 | 23 | 9 | 7 |
Variants in LIMASI
This is a list of pathogenic ClinVar variants found in the LIMASI region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
19-10252458-G-A | not specified | Uncertain significance (Jul 06, 2021) | ||
19-10256781-G-C | not specified | Uncertain significance (Jun 11, 2021) | ||
19-10258285-G-A | not specified | Uncertain significance (Jul 09, 2021) | ||
19-10258452-G-A | not specified | Uncertain significance (Jul 14, 2021) | ||
19-10259604-A-C | not specified | Benign (Mar 29, 2016) | ||
19-10259609-G-C | not specified | Benign (Mar 29, 2016) | ||
19-10271151-A-C | ICAM1-related disorder | Benign (Dec 05, 2019) | ||
19-10274815-C-T | Malaria, susceptibility to | Uncertain significance (Jul 12, 2022) | ||
19-10274827-G-A | not specified | Uncertain significance (May 15, 2023) | ||
19-10274844-C-T | Likely benign (Jul 12, 2018) | |||
19-10274859-G-A | ICAM1-related disorder | Likely benign (Nov 16, 2019) | ||
19-10274864-A-T | Malaria, cerebral, susceptibility to • ICAM1-related disorder | Benign; risk factor (Dec 05, 2019) | ||
19-10274921-A-G | not specified | Uncertain significance (Apr 12, 2023) | ||
19-10274989-G-C | not specified | Uncertain significance (Oct 20, 2023) | ||
19-10283477-G-A | Likely benign (Mar 01, 2022) | |||
19-10283515-C-G | Likely benign (Jun 13, 2018) | |||
19-10283549-C-A | not specified | Uncertain significance (Dec 13, 2023) | ||
19-10283549-C-T | not specified | Uncertain significance (Mar 27, 2023) | ||
19-10283565-G-A | not specified | Uncertain significance (Dec 06, 2021) | ||
19-10283591-G-A | not specified | Uncertain significance (Oct 22, 2021) | ||
19-10283603-C-T | not specified | Uncertain significance (Feb 28, 2023) | ||
19-10283648-G-T | not specified | Uncertain significance (May 31, 2023) | ||
19-10283652-A-C | not specified | Uncertain significance (Feb 02, 2022) | ||
19-10283664-C-T | not specified | Uncertain significance (Apr 20, 2023) | ||
19-10283688-A-G | not specified | Uncertain significance (Jul 19, 2022) |
GnomAD
Source:
dbNSFP
Source: