MIR497HG
Basic information
Region (hg38): 17:6875220-7022133
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 MIR497HG 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 MIR497HG
This is a list of pathogenic ClinVar variants found in the MIR497HG region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
17-6995799-C-T | Benign (Nov 10, 2018) | |||
17-6995902-G-A | Benign (Nov 10, 2018) | |||
17-6996178-C-A | not specified | Uncertain significance (Feb 28, 2024) | ||
17-6996240-C-G | Benign (Nov 10, 2018) | |||
17-6996310-C-T | Benign (Nov 10, 2018) | |||
17-6996412-T-C | Benign (Jun 18, 2021) | |||
17-6996757-G-A | Benign (Nov 10, 2018) | |||
17-6996897-C-A | not specified | Uncertain significance (Oct 30, 2023) | ||
17-6996913-G-A | not specified | Uncertain significance (Oct 24, 2023) | ||
17-6996965-T-C | not specified | Likely benign (May 04, 2022) | ||
17-6997043-C-T | Benign (Nov 10, 2018) | |||
17-6997064-T-C | Benign (Jun 18, 2021) | |||
17-6997125-T-G | Benign (Nov 10, 2018) | |||
17-6998353-G-A | Benign (Nov 10, 2018) | |||
17-6998511-C-T | not specified | Uncertain significance (Aug 09, 2021) | ||
17-6998512-G-A | not specified | Uncertain significance (Dec 26, 2023) | ||
17-6998520-G-C | Likely benign (Apr 01, 2022) | |||
17-6998566-T-G | not specified | Uncertain significance (Apr 18, 2023) | ||
17-6998570-A-C | Likely benign (Jul 01, 2024) | |||
17-6998575-G-A | not specified | Uncertain significance (Jan 31, 2023) | ||
17-6998836-G-A | not specified | Uncertain significance (Oct 03, 2023) | ||
17-6998860-G-A | Benign (Nov 10, 2018) | |||
17-6998958-T-C | not specified | Uncertain significance (Jan 19, 2024) | ||
17-6998976-G-A | Benign (Apr 24, 2018) | |||
17-6998981-T-C | not specified | Uncertain significance (Nov 09, 2023) |
GnomAD
Source:
dbNSFP
Source:
Essentials
- essential_gene_CRISPR
- essential_gene_CRISPR2
- essential_gene_gene_trap
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.114