F10-AS1
Basic information
Region (hg38): 13:113128150-113130051
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 F10-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 F10-AS1
This is a list of pathogenic ClinVar variants found in the F10-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 |
---|---|---|---|---|
13-113129397-G-GGGAGCCTGGGTGAAGA | Benign (Jun 20, 2021) | |||
13-113129444-C-T | Hereditary factor X deficiency disease | Benign/Likely benign (Dec 20, 2018) | ||
13-113129458-T-C | Inborn genetic diseases | Uncertain significance (May 05, 2023) | ||
13-113129461-G-A | Factor X deficiency | Uncertain significance (Apr 28, 2021) | ||
13-113129465-G-T | Factor X deficiency | Uncertain significance (Apr 28, 2021) | ||
13-113129470-A-G | Factor X deficiency | Uncertain significance (Apr 28, 2021) | ||
13-113129471-G-C | Hereditary factor X deficiency disease | Benign (Dec 31, 2019) | ||
13-113129488-C-A | Factor X deficiency | Uncertain significance (Apr 28, 2021) | ||
13-113129492-G-A | Hereditary factor X deficiency disease | Benign (Dec 31, 2019) | ||
13-113129500-G-C | Hereditary factor X deficiency disease | Likely pathogenic (-) | ||
13-113129521-A-G | Factor X deficiency | Pathogenic (Nov 08, 1996) | ||
13-113129523-A-C | Hereditary factor X deficiency disease • Inborn genetic diseases | Conflicting classifications of pathogenicity (Oct 05, 2023) | ||
13-113129528-G-A | Likely benign (Jun 08, 2018) | |||
13-113129533-G-A | Factor X deficiency | Uncertain significance (Apr 28, 2021) | ||
13-113129541-G-A | Factor X deficiency • Hereditary factor X deficiency disease | Conflicting classifications of pathogenicity (Feb 01, 2019) | ||
13-113129541-GAA-G | Hereditary factor X deficiency disease | Pathogenic (-) | ||
13-113129542-A-G | Hereditary factor X deficiency disease • Factor X deficiency • F10-related disorder | Likely pathogenic (Feb 01, 2019) | ||
13-113129548-A-G | Hereditary factor X deficiency disease | Likely pathogenic (May 05, 2023) | ||
13-113129555-G-A | Inborn genetic diseases | Uncertain significance (Aug 02, 2021) | ||
13-113129564-CT-TTGCTCATACGAAGAGGCCC | Hereditary factor X deficiency disease | Likely pathogenic (Jan 28, 2024) | ||
13-113129581-C-T | F10-related disorder | Uncertain significance (Mar 29, 2024) | ||
13-113129586-G-A | Hereditary factor X deficiency disease | Likely pathogenic (-) | ||
13-113129593-T-C | Hereditary factor X deficiency disease | Likely pathogenic (-) | ||
13-113129595-G-C | Factor X deficiency | Pathogenic (Sep 01, 1999) | ||
13-113129612-G-C | Hereditary factor X deficiency disease | Uncertain significance (-) |
GnomAD
Source:
dbNSFP
Source: