ROR1-AS1
Basic information
Region (hg38): 1:64094379-64171342
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- not provided (34 variants)
- Inborn genetic diseases (7 variants)
- Hearing loss, autosomal recessive 108 (3 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the ROR1-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 | 20 | 13 | 41 | |||
Total | 0 | 0 | 20 | 13 | 8 |
Variants in ROR1-AS1
This is a list of pathogenic ClinVar variants found in the ROR1-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 |
---|---|---|---|---|
1-64137378-TGAA-T | Uncertain significance (Oct 03, 2023) | |||
1-64137379-G-A | Uncertain significance (Apr 12, 2023) | |||
1-64137385-G-T | not specified | Uncertain significance (Nov 15, 2021) | ||
1-64137412-A-G | Uncertain significance (Nov 11, 2021) | |||
1-64137431-T-C | not specified | Uncertain significance (Sep 17, 2021) | ||
1-64137439-C-A | Uncertain significance (Oct 07, 2022) | |||
1-64137455-A-G | not specified | Uncertain significance (Jun 27, 2023) | ||
1-64137510-A-G | Likely benign (Dec 01, 2023) | |||
1-64137512-G-T | Benign (Dec 12, 2023) | |||
1-64137548-G-A | Benign (May 14, 2021) | |||
1-64140113-C-G | Likely benign (Apr 13, 2023) | |||
1-64140117-A-C | Uncertain significance (Aug 10, 2023) | |||
1-64140128-C-T | Likely benign (Aug 15, 2022) | |||
1-64140196-C-T | not specified | Uncertain significance (Jan 18, 2022) | ||
1-64140200-C-T | ROR1-related disorder | Likely benign (Sep 21, 2023) | ||
1-64140203-C-T | Likely benign (Aug 05, 2023) | |||
1-64140246-G-A | Uncertain significance (May 16, 2023) | |||
1-64140263-G-A | Likely benign (Jun 13, 2022) | |||
1-64140312-A-G | Uncertain significance (Feb 13, 2023) | |||
1-64140367-G-A | not specified | Uncertain significance (Jan 26, 2022) | ||
1-64140379-C-T | Uncertain significance (Aug 16, 2022) | |||
1-64140380-G-A | Likely benign (Nov 19, 2021) | |||
1-64140382-A-G | Uncertain significance (Aug 02, 2023) | |||
1-64142392-G-A | Likely benign (Oct 03, 2023) | |||
1-64142398-T-C | ROR1-related disorder | Likely benign (Nov 24, 2020) |
GnomAD
Source:
dbNSFP
Source: