MIR4435-2HG
Basic information
Region (hg38): 2:111006015-111523376
Previous symbols: [ "MIR4435-1HG" ]
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- Inborn genetic diseases (13 variants)
- not provided (2 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the MIR4435-2HG 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 | 12 | 15 | ||||
Total | 0 | 0 | 12 | 1 | 2 |
Variants in MIR4435-2HG
This is a list of pathogenic ClinVar variants found in the MIR4435-2HG region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
2-111031628-T-C | not specified | Uncertain significance (Jul 29, 2023) | ||
2-111031678-C-T | not specified | Uncertain significance (Jan 23, 2024) | ||
2-111031693-T-G | not specified | Uncertain significance (Sep 21, 2023) | ||
2-111092878-A-G | not specified | Uncertain significance (Aug 04, 2023) | ||
2-111092905-G-A | not specified | Uncertain significance (Feb 28, 2024) | ||
2-111092905-G-T | not specified | Uncertain significance (Jan 02, 2024) | ||
2-111092911-G-T | not specified | Uncertain significance (Sep 07, 2022) | ||
2-111092950-C-T | not specified | Likely benign (Oct 10, 2023) | ||
2-111117769-C-T | not specified | Uncertain significance (Oct 12, 2021) | ||
2-111123784-C-T | Benign (Dec 31, 2019) | |||
2-111123785-C-G | not specified | Uncertain significance (Jun 07, 2024) | ||
2-111123830-A-G | not specified | Uncertain significance (Aug 17, 2021) | ||
2-111123848-T-C | not specified | Uncertain significance (Feb 27, 2024) | ||
2-111123872-A-G | not specified | Uncertain significance (Dec 19, 2022) | ||
2-111123885-A-G | not specified | Uncertain significance (Oct 06, 2022) | ||
2-111123893-G-C | not specified | Uncertain significance (Jun 10, 2022) | ||
2-111123954-C-G | not specified | Uncertain significance (Dec 01, 2022) | ||
2-111124038-C-T | not specified | Uncertain significance (Feb 21, 2024) | ||
2-111150070-G-A | not specified | Uncertain significance (Mar 23, 2023) | ||
2-111150129-C-A | not specified | Uncertain significance (Mar 08, 2024) | ||
2-111161417-A-G | Benign (Oct 28, 2020) | |||
2-111164135-A-G | not specified | Likely benign (Jun 30, 2023) | ||
2-111164196-C-T | not specified | Uncertain significance (May 10, 2024) | ||
2-111164197-G-A | not specified | Uncertain significance (Dec 07, 2021) | ||
2-111164202-A-G | not specified | Uncertain significance (Mar 25, 2024) |
GnomAD
Source:
dbNSFP
Source:
Haploinsufficiency Scores
- pHI
- 0.0729
- hipred
- hipred_score
- ghis
Mouse Genome Informatics
- Gene name
- Gm14005
- Phenotype