CR1-AS1
Basic information
Region (hg38): 1:207551925-207606555
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 CR1-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 CR1-AS1
This is a list of pathogenic ClinVar variants found in the CR1-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 |
|---|---|---|---|---|
| 1-207563903-C-A | not specified | Uncertain significance (Aug 02, 2023) | ||
| 1-207563917-G-T | not specified | Uncertain significance (Apr 07, 2022) | ||
| 1-207563931-C-T | Likely benign (Dec 01, 2023) | |||
| 1-207563932-G-A | not specified | Uncertain significance (Apr 08, 2024) | ||
| 1-207563966-A-G | Uncertain significance (Jun 01, 2023) | |||
| 1-207563993-G-A | not specified | Uncertain significance (Mar 27, 2024) | ||
| 1-207564023-C-T | not specified | Uncertain significance (Aug 02, 2021) | ||
| 1-207564171-G-A | not specified | Uncertain significance (May 24, 2024) | ||
| 1-207564173-C-T | not specified | Uncertain significance (Mar 07, 2024) | ||
| 1-207564209-A-G | not specified | Uncertain significance (Sep 22, 2023) | ||
| 1-207565846-TA-T | KNOPS BLOOD GROUP SYSTEM | Uncertain significance (Jun 15, 2022) | ||
| 1-207565858-C-T | not specified | Conflicting classifications of pathogenicity (Jun 01, 2024) | ||
| 1-207565885-T-C | not specified | Uncertain significance (Feb 05, 2024) | ||
| 1-207565908-G-A | not specified | Uncertain significance (Jun 07, 2024) | ||
| 1-207565911-C-T | not specified | Uncertain significance (Feb 02, 2024) | ||
| 1-207567835-C-A | not specified | Uncertain significance (Jul 12, 2023) | ||
| 1-207567850-A-G | Likely benign (Jan 01, 2023) | |||
| 1-207567865-C-T | not specified | Uncertain significance (Sep 20, 2023) | ||
| 1-207567895-T-A | not specified | Uncertain significance (Jun 28, 2023) | ||
| 1-207567922-G-A | not specified | Uncertain significance (Sep 16, 2021) | ||
| 1-207567944-C-T | not specified | Likely benign (Dec 07, 2023) | ||
| 1-207567952-G-A | not specified | Uncertain significance (May 31, 2023) | ||
| 1-207567977-G-A | not specified | Uncertain significance (Jul 14, 2021) | ||
| 1-207568028-G-A | not specified | Uncertain significance (Nov 01, 2022) | ||
| 1-207575617-T-C | not specified | Uncertain significance (Oct 13, 2021) |
GnomAD
Source:
dbNSFP
Source: