JAKMIP2-AS1
Basic information
Region (hg38): 5:147559930-147694828
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 JAKMIP2-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 JAKMIP2-AS1
This is a list of pathogenic ClinVar variants found in the JAKMIP2-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 |
---|---|---|---|---|
5-147617933-T-A | not specified | Uncertain significance (Aug 21, 2023) | ||
5-147629734-G-A | not specified | Uncertain significance (Oct 16, 2023) | ||
5-147632750-C-T | not specified | Uncertain significance (Apr 25, 2022) | ||
5-147639666-G-A | not specified | Uncertain significance (Dec 01, 2022) | ||
5-147640785-G-C | not specified | Uncertain significance (Jan 23, 2024) | ||
5-147644084-G-T | not specified | Uncertain significance (Feb 06, 2024) | ||
5-147644158-T-C | not specified | Uncertain significance (Mar 11, 2024) | ||
5-147644171-G-T | not specified | Uncertain significance (Sep 20, 2023) | ||
5-147644944-T-C | not specified | Uncertain significance (Dec 19, 2022) | ||
5-147648391-A-T | not specified | Uncertain significance (Dec 28, 2022) | ||
5-147648393-C-T | not specified | Uncertain significance (Dec 20, 2023) | ||
5-147648448-T-C | not specified | Uncertain significance (Mar 21, 2024) | ||
5-147648469-C-A | not specified | Uncertain significance (Jun 03, 2022) | ||
5-147650351-T-A | not specified | Uncertain significance (Jun 07, 2024) | ||
5-147650405-T-C | not specified | Uncertain significance (Dec 19, 2023) | ||
5-147650538-T-C | not specified | Uncertain significance (Feb 09, 2023) | ||
5-147661175-T-C | not specified | Uncertain significance (Oct 26, 2021) | ||
5-147661191-T-G | not specified | Uncertain significance (May 31, 2023) | ||
5-147661210-C-T | not specified | Uncertain significance (Aug 10, 2021) | ||
5-147661399-C-T | not specified | Uncertain significance (Dec 20, 2023) | ||
5-147661411-G-A | not specified | Uncertain significance (Sep 22, 2021) | ||
5-147671761-T-C | not specified | Uncertain significance (Sep 12, 2023) |
GnomAD
Source:
dbNSFP
Source: