ARAP1-AS2
Basic information
Region (hg38): 11:72700474-72705607
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- Inborn genetic diseases (8 variants)
- not provided (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the ARAP1-AS2 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 | 9 | |||||
Total | 0 | 0 | 8 | 0 | 1 |
Variants in ARAP1-AS2
This is a list of pathogenic ClinVar variants found in the ARAP1-AS2 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
11-72701654-C-T | not specified | Uncertain significance (Mar 01, 2025) | ||
11-72701663-C-T | not specified | Uncertain significance (Feb 28, 2024) | ||
11-72701715-G-A | not specified | Uncertain significance (Feb 12, 2025) | ||
11-72701757-G-T | not specified | Uncertain significance (Aug 10, 2021) | ||
11-72701762-A-G | not specified | Uncertain significance (Dec 17, 2024) | ||
11-72701793-C-T | Benign (Apr 16, 2018) | |||
11-72702913-C-T | not specified | Likely benign (Feb 05, 2025) | ||
11-72702914-G-A | not specified | Uncertain significance (Aug 05, 2024) | ||
11-72702914-G-C | not specified | Uncertain significance (Mar 29, 2022) | ||
11-72702968-C-T | not specified | Uncertain significance (Jan 02, 2025) | ||
11-72702976-G-A | not specified | Uncertain significance (Apr 24, 2024) | ||
11-72703033-G-A | not specified | Uncertain significance (Jul 06, 2021) | ||
11-72704192-C-T | not specified | Uncertain significance (Mar 04, 2024) | ||
11-72704195-C-T | not specified | Uncertain significance (Dec 09, 2023) | ||
11-72704240-G-C | not specified | Uncertain significance (May 04, 2022) | ||
11-72704279-G-A | not specified | Uncertain significance (Nov 23, 2022) | ||
11-72704289-C-G | not specified | Uncertain significance (Dec 16, 2023) | ||
11-72704301-G-A | not specified | Uncertain significance (Nov 21, 2022) | ||
11-72704310-C-T | not specified | Uncertain significance (Jan 20, 2025) |
GnomAD
Source:
dbNSFP
Source: