SNHG16
Basic information
Region (hg38): 17:76557191-76714384
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- Inborn genetic diseases (45 variants)
- not provided (2 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the SNHG16 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 | 45 | 47 | ||||
Total | 0 | 0 | 45 | 1 | 1 |
Variants in SNHG16
This is a list of pathogenic ClinVar variants found in the SNHG16 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
17-76566115-A-G | not specified | Uncertain significance (Oct 26, 2022) | ||
17-76566130-C-T | not specified | Uncertain significance (Dec 01, 2024) | ||
17-76566175-C-A | not specified | Uncertain significance (Dec 04, 2024) | ||
17-76566175-C-T | not specified | Uncertain significance (Mar 27, 2023) | ||
17-76566226-C-T | not specified | Uncertain significance (Jul 12, 2023) | ||
17-76566245-G-C | not specified | Uncertain significance (Dec 14, 2022) | ||
17-76567466-T-C | not specified | Uncertain significance (Sep 11, 2024) | ||
17-76567505-A-G | not specified | Uncertain significance (Dec 21, 2023) | ||
17-76570592-A-G | not specified | Uncertain significance (Nov 07, 2022) | ||
17-76572644-T-C | not specified | Uncertain significance (Apr 26, 2023) | ||
17-76572731-G-A | not specified | Uncertain significance (Oct 06, 2022) | ||
17-76572747-C-T | not specified | Uncertain significance (Jun 02, 2023) | ||
17-76573217-C-T | not specified | Uncertain significance (Mar 07, 2024) | ||
17-76573249-A-T | not specified | Uncertain significance (Jan 03, 2024) | ||
17-76573256-C-T | not specified | Uncertain significance (Jun 29, 2022) | ||
17-76573268-C-T | not specified | Uncertain significance (May 15, 2024) | ||
17-76573276-C-T | not specified | Uncertain significance (Dec 17, 2023) | ||
17-76573325-T-A | not specified | Uncertain significance (Oct 22, 2021) | ||
17-76574367-T-C | not specified | Uncertain significance (Oct 10, 2023) | ||
17-76574370-T-A | not specified | Uncertain significance (Oct 12, 2021) | ||
17-76574382-C-T | not specified | Likely benign (Dec 05, 2024) | ||
17-76574383-G-C | not specified | Uncertain significance (Dec 01, 2022) | ||
17-76574394-G-A | not specified | Uncertain significance (Jul 26, 2024) | ||
17-76574398-C-T | not specified | Uncertain significance (Feb 26, 2024) | ||
17-76574401-T-G | not specified | Uncertain significance (Dec 14, 2021) |
GnomAD
Source:
dbNSFP
Source:
Haploinsufficiency Scores
- pHI
- 0.563
- hipred
- hipred_score
- ghis
- 0.496
Mouse Genome Informatics
- Gene name
- 1810032O08Rik
- Phenotype