MAP9-AS1
Basic information
Region (hg38): 4:155173525-155381694
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- Inborn genetic diseases (44 variants)
- not provided (8 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the MAP9-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 | 43 | 52 | ||||
Total | 0 | 0 | 43 | 5 | 4 |
Variants in MAP9-AS1
This is a list of pathogenic ClinVar variants found in the MAP9-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 |
---|---|---|---|---|
4-155213977-C-G | not specified | Uncertain significance (Mar 20, 2024) | ||
4-155214003-T-C | Likely benign (Jul 10, 2018) | |||
4-155214016-C-A | not specified | Uncertain significance (Feb 12, 2024) | ||
4-155214054-G-C | not specified | Uncertain significance (Mar 23, 2022) | ||
4-155214098-C-T | Benign (Aug 21, 2018) | |||
4-155214136-T-C | not specified | Uncertain significance (Jan 17, 2023) | ||
4-155214267-T-C | not specified | Uncertain significance (Oct 22, 2021) | ||
4-155214305-G-A | Likely benign (Jun 05, 2018) | |||
4-155214382-G-A | not specified | Uncertain significance (Aug 31, 2022) | ||
4-155214433-G-A | not specified | Uncertain significance (Jun 27, 2022) | ||
4-155214453-G-A | Benign (Mar 01, 2018) | |||
4-155214489-G-A | not specified | Uncertain significance (Aug 28, 2023) | ||
4-155214537-A-T | not specified | Uncertain significance (Dec 06, 2022) | ||
4-155214578-C-A | not specified | Uncertain significance (Jul 20, 2021) | ||
4-155214593-C-G | Benign (Mar 29, 2018) | |||
4-155214661-G-A | not specified | Uncertain significance (Jun 16, 2024) | ||
4-155214850-A-G | not specified | Uncertain significance (Jan 30, 2024) | ||
4-155214917-C-T | Benign (Jun 08, 2018) | |||
4-155214973-G-A | Likely benign (Jul 04, 2018) | |||
4-155214986-T-G | not specified | Uncertain significance (Jun 10, 2024) | ||
4-155215046-T-G | not specified | Uncertain significance (Feb 03, 2023) | ||
4-155215049-C-A | Likely benign (Jul 16, 2018) | |||
4-155215050-C-A | not specified | Uncertain significance (Dec 21, 2022) | ||
4-155215074-A-G | not specified | Uncertain significance (Apr 12, 2024) | ||
4-155347809-T-C | not specified | Uncertain significance (Apr 18, 2023) |
GnomAD
Source:
dbNSFP
Source: