LINC01917
Basic information
Region (hg38): 18:53480825-53581107
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- not provided (14 variants)
- - (3 variants)
- Colorectal cancer (2 variants)
- Mirror movements 1 (2 variants)
- Inborn genetic diseases (2 variants)
- Carcinoma of colon (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the LINC01917 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 | 20 | ||||
Total | 2 | 1 | 13 | 4 | 0 |
Variants in LINC01917
This is a list of pathogenic ClinVar variants found in the LINC01917 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
18-53486801-C-T | Likely benign (Jun 01, 2023) | |||
18-53486806-G-A | Likely benign (Feb 27, 2020) | |||
18-53486808-G-A | - | no classification for the single variant (-) | ||
18-53486838-C-T | Mirror movements 1 | Likely pathogenic (Jun 20, 2023) | ||
18-53486839-A-G | Uncertain significance (Aug 23, 2019) | |||
18-53486871-G-A | Inborn genetic diseases | Uncertain significance (Nov 06, 2023) | ||
18-53486884-C-G | Uncertain significance (Jun 01, 2022) | |||
18-53486892-ACT-A | Mirror movements 1 | Pathogenic (Jan 18, 2011) | ||
18-53486932-G-A | Colorectal cancer | Uncertain significance (Aug 01, 2016) | ||
18-53486940-G-A | not specified | Uncertain significance (Feb 12, 2024) | ||
18-53499296-A-T | Uncertain significance (Jun 01, 2023) | |||
18-53499330-C-T | Uncertain significance (Oct 08, 2020) | |||
18-53499342-C-G | Inborn genetic diseases | Uncertain significance (Dec 01, 2022) | ||
18-53499408-C-T | - | no classification for the single variant (-) | ||
18-53499427-G-A | Colorectal cancer • Inborn genetic diseases | Likely benign (Mar 29, 2022) | ||
18-53499445-T-TGCTAC | DCC-related disorder | Uncertain significance (May 31, 2024) | ||
18-53499457-C-T | Uncertain significance (Aug 23, 2019) | |||
18-53499475-C-T | Uncertain significance (-) | |||
18-53499478-A-C | Uncertain significance (Jul 20, 2022) | |||
18-53526629-C-A | Carcinoma of colon | Pathogenic (Feb 01, 1994) | ||
18-53526691-C-T | Uncertain significance (Dec 07, 2022) | |||
18-53526713-C-CTGAAG | DCC-related disorder | Uncertain significance (Feb 14, 2024) | ||
18-53526715-G-A | - | no classification for the single variant (-) | ||
18-53526715-G-C | Inborn genetic diseases | Uncertain significance (Dec 28, 2023) | ||
18-53526734-A-G | Uncertain significance (Sep 19, 2019) |
GnomAD
Source:
dbNSFP
Source: