OBI1-AS1
Basic information
Region (hg38): 13:77919689-78617334
Previous symbols: [ "POU4F1-AS1", "RNF219-AS1" ]
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- not provided (28 variants)
- Inborn genetic diseases (19 variants)
- Hirschsprung disease, susceptibility to, 2 (11 variants)
- Ataxia, intention tremor, and hypotonia syndrome, childhood-onset (5 variants)
- Cerebellar dysfunction with variable cognitive and behavioral abnormalities (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the OBI1-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) | 1 | |||||
splice region | 0 | |||||
non coding | 35 | 16 | 59 | |||
Total | 5 | 1 | 36 | 16 | 2 |
Variants in OBI1-AS1
This is a list of pathogenic ClinVar variants found in the OBI1-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 |
---|---|---|---|---|
13-77919725-AG-A | Likely benign (Aug 23, 2018) | |||
13-77919839-C-G | Likely benign (Apr 10, 2019) | |||
13-77975347-C-T | Hirschsprung disease, susceptibility to, 2 | Uncertain significance (Jan 15, 2018) | ||
13-77975359-G-A | Hirschsprung disease, susceptibility to, 2 | Uncertain significance (Jan 13, 2018) | ||
13-77975416-C-A | Hirschsprung disease, susceptibility to, 2 | Benign (Jan 13, 2018) | ||
13-77975448-G-A | Hirschsprung disease, susceptibility to, 2 | Uncertain significance (Jan 12, 2018) | ||
13-77975455-C-T | Hirschsprung disease, susceptibility to, 2 | Uncertain significance (Apr 28, 2017) | ||
13-77975456-G-A | Hirschsprung disease, susceptibility to, 2 | Uncertain significance (Jan 13, 2018) | ||
13-77975474-G-A | Hirschsprung disease, susceptibility to, 2 | Uncertain significance (Jan 13, 2018) | ||
13-77975500-C-T | Hirschsprung disease, susceptibility to, 2 | Likely benign (Jan 13, 2018) | ||
13-77975501-G-A | Hirschsprung disease, susceptibility to, 2 | Likely benign (Jan 13, 2018) | ||
13-77975520-A-T | Hirschsprung disease, susceptibility to, 2 | Uncertain significance (Jan 13, 2018) | ||
13-77975523-G-A | Hirschsprung disease, susceptibility to, 2 | Uncertain significance (Jan 13, 2018) | ||
13-78596609-G-A | Likely benign (Jan 01, 2023) | |||
13-78601441-G-A | Ataxia, intention tremor, and hypotonia syndrome, childhood-onset | Uncertain significance (Oct 09, 2024) | ||
13-78601484-G-C | not specified | Uncertain significance (Jun 01, 2023) | ||
13-78601491-T-C | not specified | Uncertain significance (Apr 19, 2024) | ||
13-78601553-G-A | Likely benign (Oct 01, 2024) | |||
13-78601570-A-G | Inborn genetic diseases | Uncertain significance (Jan 24, 2019) | ||
13-78601636-G-A | not specified | Uncertain significance (Nov 14, 2023) | ||
13-78601637-C-T | Likely benign (Feb 01, 2023) | |||
13-78601644-AT-A | Inborn genetic diseases | Uncertain significance (Jan 24, 2019) | ||
13-78601654-G-T | not specified | Uncertain significance (May 05, 2023) | ||
13-78601733-C-T | POU4F1-related disorder | Likely benign (Sep 21, 2024) | ||
13-78601742-C-G | not specified | Uncertain significance (Nov 09, 2024) |
GnomAD
Source:
dbNSFP
Source: