RNF157-AS1
Basic information
Region (hg38): 17:76138425-76154650
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the RNF157-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 | 0 | |||||
Total | 0 | 0 | 0 | 0 | 0 |
Variants in RNF157-AS1
This is a list of pathogenic ClinVar variants found in the RNF157-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 |
---|---|---|---|---|
17-76139911-T-A | Inborn genetic diseases | Uncertain significance (Oct 12, 2024) | ||
17-76139929-CAGA-C | FOXJ1-related disorder | Uncertain significance (Jun 05, 2024) | ||
17-76139993-G-C | Ciliary dyskinesia, primary, 43 | Uncertain significance (Oct 10, 2022) | ||
17-76140064-T-C | Uncertain significance (Jul 09, 2024) | |||
17-76140065-C-T | FOXJ1-related disorder | Likely benign (Mar 16, 2023) | ||
17-76140074-G-A | FOXJ1-related disorder • Inborn genetic diseases | Uncertain significance (Sep 25, 2024) | ||
17-76140103-C-G | Inborn genetic diseases | Uncertain significance (Sep 27, 2024) | ||
17-76140107-A-C | Inborn genetic diseases | Uncertain significance (Dec 02, 2021) | ||
17-76140107-A-T | Inborn genetic diseases | Uncertain significance (May 02, 2024) | ||
17-76140117-C-T | FOXJ1-related disorder | Likely benign (Dec 11, 2023) | ||
17-76140127-T-C | Uncertain significance (Nov 10, 2023) | |||
17-76140163-T-G | Inborn genetic diseases | Uncertain significance (Sep 15, 2021) | ||
17-76140172-A-G | Inborn genetic diseases | Uncertain significance (Nov 09, 2024) | ||
17-76140172-A-AG | Ciliary dyskinesia, primary, 43 | Likely pathogenic (Aug 26, 2024) | ||
17-76140174-G-T | FOXJ1-related disorder | Likely benign (Mar 09, 2023) | ||
17-76140202-A-G | FOXJ1-related disorder | Uncertain significance (May 31, 2024) | ||
17-76140204-C-G | Inborn genetic diseases | Uncertain significance (Sep 27, 2024) | ||
17-76140209-G-C | Inborn genetic diseases | Uncertain significance (Jun 26, 2024) | ||
17-76140222-G-T | Uncertain significance (Jul 08, 2024) | |||
17-76140235-G-A | FOXJ1-related disorder | Uncertain significance (May 28, 2024) | ||
17-76140250-G-A | Inborn genetic diseases | Uncertain significance (Dec 13, 2023) | ||
17-76140344-C-T | Uncertain significance (Oct 01, 2022) | |||
17-76140379-A-C | Ciliary dyskinesia, primary, 43 | Uncertain significance (May 16, 2024) | ||
17-76140381-C-A | Inborn genetic diseases | Uncertain significance (May 09, 2024) | ||
17-76140384-G-C | Inborn genetic diseases | Uncertain significance (Jun 30, 2024) |
GnomAD
Source:
dbNSFP
Source: