RAET1E-AS1
Basic information
Region (hg38): 6:149884431-149919508
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- Inborn genetic diseases (17 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the RAET1E-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 | 17 | ||||
Total | 0 | 0 | 14 | 3 | 0 |
Variants in RAET1E-AS1
This is a list of pathogenic ClinVar variants found in the RAET1E-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 |
---|---|---|---|---|
6-149888548-A-C | not specified | Uncertain significance (May 10, 2023) | ||
6-149888640-T-G | not specified | Uncertain significance (Dec 15, 2023) | ||
6-149888652-G-A | not specified | Likely benign (Aug 02, 2022) | ||
6-149889353-G-A | not specified | Uncertain significance (Apr 20, 2024) | ||
6-149889408-C-T | not specified | Uncertain significance (May 13, 2022) | ||
6-149889432-A-T | not specified | Uncertain significance (Aug 04, 2023) | ||
6-149889490-A-C | not specified | Uncertain significance (Dec 15, 2023) | ||
6-149889505-C-T | not specified | Uncertain significance (Jul 17, 2023) | ||
6-149889516-C-A | not specified | Uncertain significance (Nov 10, 2022) | ||
6-149889542-T-C | not specified | Uncertain significance (Apr 08, 2022) | ||
6-149889575-C-T | not specified | Uncertain significance (Jul 14, 2021) | ||
6-149889576-G-A | not specified | Uncertain significance (Dec 11, 2023) | ||
6-149889929-A-G | not specified | Uncertain significance (Dec 02, 2021) | ||
6-149889971-C-A | not specified | Uncertain significance (Dec 17, 2023) | ||
6-149889983-G-A | not specified | Uncertain significance (Oct 04, 2023) | ||
6-149889984-C-A | not specified | Uncertain significance (Oct 04, 2023) | ||
6-149890023-T-A | not specified | Uncertain significance (Jun 16, 2023) | ||
6-149890868-G-A | not specified | Uncertain significance (Jan 03, 2024) | ||
6-149918238-G-A | not specified | Uncertain significance (Mar 22, 2024) | ||
6-149918306-A-G | not specified | Uncertain significance (May 30, 2022) | ||
6-149919075-C-T | not specified | Uncertain significance (Jan 23, 2024) | ||
6-149919139-T-C | not specified | Uncertain significance (Dec 02, 2021) | ||
6-149919142-T-C | not specified | Likely benign (Mar 01, 2023) | ||
6-149919204-A-G | not specified | Uncertain significance (Jan 23, 2023) | ||
6-149919240-C-T | not specified | Uncertain significance (Dec 17, 2021) |
GnomAD
Source:
dbNSFP
Source: