MYCL-AS1

MYCL antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 1:39882860-39899103

Links

ENSG00000236546 ∙ NCBI:105378668 ∙ ∙ HGNC:40386 ∙ ∙ ∙ 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 MYCL-AS1 gene.

• Inborn genetic diseases (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MYCL-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			1			1
Total	0	0	1	0	0

Variants in MYCL-AS1

This is a list of pathogenic ClinVar variants found in the MYCL-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
1-39883063-C-T			Likely benign (Aug 03, 2018)
1-39883300-C-A			Likely benign (Aug 31, 2022)
1-39883351-G-A		TRIT1-related disorder	Likely benign (Nov 22, 2022)
1-39883356-G-A		Inborn genetic diseases	Uncertain significance (May 25, 2022)
1-39883361-C-G			Uncertain significance (Jun 18, 2019)
1-39883378-C-T		TRIT1-related disorder	Likely benign (Mar 21, 2019)
1-39883427-G-A		Combined oxidative phosphorylation deficiency 35	Uncertain significance (Dec 08, 2023)
1-39883439-C-A		TRIT1-related disorder	Benign/Likely benign (Dec 15, 2023)
1-39883449-C-T		Inborn genetic diseases	Uncertain significance (Jun 22, 2023)
1-39883459-G-A		Combined oxidative phosphorylation deficiency 35	Benign (Feb 01, 2024)
1-39883461-G-A		Inborn genetic diseases	Likely benign (Mar 18, 2024)
1-39883465-T-C			Likely benign (Feb 04, 2023)
1-39883466-G-C			Uncertain significance (Nov 08, 2022)
1-39883469-C-A		Inborn genetic diseases	Uncertain significance (May 29, 2024)
1-39883470-G-A		TRIT1 Deficiency • Combined oxidative phosphorylation deficiency 35 • Inborn genetic diseases	Pathogenic/Likely pathogenic (Dec 08, 2023)
1-39883470-G-C			Uncertain significance (Apr 16, 2019)
1-39883476-C-T		Combined oxidative phosphorylation deficiency 35 • Inborn genetic diseases	Uncertain significance (Mar 28, 2024)
1-39883661-G-A			Benign (Aug 13, 2019)
1-39883663-C-CT			Benign (Aug 06, 2019)
1-39883721-G-A			Benign (Jun 28, 2018)
1-39883738-T-C			Benign (Jun 14, 2018)
1-39883756-G-A			Benign (Jun 14, 2018)
1-39897409-T-C		not specified	Uncertain significance (Sep 01, 2021)
1-39897413-G-C		not specified	Uncertain significance (Dec 13, 2021)
1-39897418-C-T		not specified	Uncertain significance (Nov 30, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP