MAST3-AS1

MAST3 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 19:18144522-18151691

Links

ENSG00000269145 ∙ ∙ ∙ HGNC:55276 ∙ ∙ ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MAST3-AS1 gene.

• Inborn genetic diseases (20 variants)
• not provided (3 variants)
• Early infantile epileptic encephalopathy with suppression bursts (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MAST3-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			16	7	1	24
Total	0	0	16	7	1

Variants in MAST3-AS1

This is a list of pathogenic ClinVar variants found in the MAST3-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
19-18144549-G-A			Benign (Mar 22, 2022)
19-18144556-G-A		Inborn genetic diseases	Uncertain significance (Dec 09, 2023)
19-18144561-C-T		Developmental and epileptic encephalopathy 108	Uncertain significance (Dec 18, 2024)
19-18144562-G-A		not specified	Uncertain significance (Apr 09, 2024)
19-18144571-G-T		Inborn genetic diseases	Uncertain significance (Oct 05, 2023)
19-18144615-G-A		Inborn genetic diseases	Likely benign (Feb 27, 2024)
19-18144643-G-A		Inborn genetic diseases	Uncertain significance (Sep 24, 2024)
19-18144683-C-G		Inborn genetic diseases	Uncertain significance (Dec 28, 2023)
19-18144690-G-A		Inborn genetic diseases	Uncertain significance (Jul 19, 2023)
19-18145018-G-A		Inborn genetic diseases	Uncertain significance (Feb 08, 2023)
19-18145072-G-C			Uncertain significance (Apr 08, 2022)
19-18145090-G-A		Inborn genetic diseases	Uncertain significance (Jul 17, 2023)
19-18145096-C-T		Inborn genetic diseases	Uncertain significance (Dec 12, 2023)
19-18145104-G-A		Inborn genetic diseases	Uncertain significance (Feb 10, 2022)
19-18145119-C-T		Inborn genetic diseases	Likely benign (May 22, 2023)
19-18145120-G-A		Inborn genetic diseases	Uncertain significance (May 11, 2022)
19-18145200-G-A		Inborn genetic diseases	Uncertain significance (Dec 20, 2023)
19-18145203-G-A		Inborn genetic diseases	Uncertain significance (Nov 18, 2023)
19-18145224-G-A		Inborn genetic diseases	Uncertain significance (Nov 06, 2023)
19-18145768-A-G			Uncertain significance (Feb 28, 2024)
19-18145774-C-T		Inborn genetic diseases	Uncertain significance (Nov 06, 2023)
19-18145785-G-T		Inborn genetic diseases	Uncertain significance (Sep 29, 2022)
19-18145855-T-G		Inborn genetic diseases	Uncertain significance (Sep 16, 2021)
19-18146896-T-A		Inborn genetic diseases	Uncertain significance (Dec 12, 2023)
19-18146897-C-A		Inborn genetic diseases	Uncertain significance (Apr 29, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP