RAB11B-AS1
Basic information
Region (hg38): 19:8368304-8390685
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- not provided (14 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the RAB11B-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 | 14 | |||||
Total | 0 | 0 | 3 | 6 | 5 |
Variants in RAB11B-AS1
This is a list of pathogenic ClinVar variants found in the RAB11B-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 |
---|---|---|---|---|
19-8369213-C-T | Benign (Jun 12, 2018) | |||
19-8369216-C-T | Benign (May 20, 2018) | |||
19-8369219-G-T | not specified | Uncertain significance (May 27, 2022) | ||
19-8369300-C-T | not specified | Uncertain significance (Aug 05, 2023) | ||
19-8369301-G-A | ANGPTL4-related disorder | Benign (Nov 26, 2019) | ||
19-8369320-A-T | Plasma triglyceride level quantitative trait locus | association (Jan 01, 2009) | ||
19-8371103-T-G | not specified | Uncertain significance (Oct 29, 2021) | ||
19-8371109-C-T | not specified | Uncertain significance (Feb 23, 2023) | ||
19-8371237-C-G | ANGPTL4-related disorder | Likely benign (Apr 09, 2019) | ||
19-8371297-C-T | not specified | Uncertain significance (Jun 18, 2024) | ||
19-8371298-G-A | not specified | Uncertain significance (Jan 04, 2024) | ||
19-8371316-G-A | Benign (Jun 21, 2018) | |||
19-8371354-G-A | not specified | Uncertain significance (Dec 28, 2022) | ||
19-8371360-C-A | not specified | Uncertain significance (Jan 10, 2023) | ||
19-8371363-G-A | not specified | Uncertain significance (Jan 08, 2024) | ||
19-8371402-C-T | not specified | Uncertain significance (Sep 06, 2022) | ||
19-8371404-C-T | ANGPTL4-related disorder | Likely benign (Nov 26, 2019) | ||
19-8371411-G-A | not specified | Likely benign (May 23, 2023) | ||
19-8371432-G-A | not specified | Uncertain significance (Jul 06, 2021) | ||
19-8371453-G-A | not specified | Uncertain significance (Aug 05, 2023) | ||
19-8371507-G-A | not specified | Uncertain significance (Oct 06, 2022) | ||
19-8373745-C-T | ANGPTL4-related disorder | Benign (Aug 16, 2018) | ||
19-8373832-G-A | ANGPTL4-related disorder | Benign (Oct 21, 2019) | ||
19-8373866-G-A | Likely benign (Sep 01, 2022) | |||
19-8373867-C-G | Likely benign (Sep 01, 2022) |
GnomAD
Source:
dbNSFP
Source:
Mouse Genome Informatics
- Gene name
- Gm17251
- Phenotype