MYLK-AS1

MYLK antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 3:123584354-123716399

Links

ENSG00000239523 ∙ NCBI:100506826 ∙ ∙ HGNC:42440 ∙ ∙ ∙ 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 MYLK-AS1 gene.

• Aortic aneurysm, familial thoracic 7 (237 variants)
• Familial thoracic aortic aneurysm and aortic dissection (145 variants)
• not provided (77 variants)
• not specified (40 variants)
• Aortic aneurysm, familial thoracic 7;Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 (13 variants)
• Megacystis-microcolon-intestinal hypoperistalsis syndrome 1;Aortic aneurysm, familial thoracic 7 (9 variants)
• Inborn genetic diseases (8 variants)
• Connective tissue disorder (7 variants)
• Aortic aneurysm, familial abdominal, 1 (1 variants)
• MYLK-related condition (1 variants)
• Familial thoracic aortic aneurysm and aortic dissection;Disproportionate tall stature (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MYLK-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)			3	1		4
splice region						0
non coding	1	4	177	141	9	332
Total	1	4	180	142	9

Variants in MYLK-AS1

This is a list of pathogenic ClinVar variants found in the MYLK-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
3-123584976-C-A		not specified	Uncertain significance (Dec 03, 2021)
3-123585011-G-A		not specified	Uncertain significance (Oct 12, 2021)
3-123585018-C-A		not specified	Uncertain significance (Jul 12, 2022)
3-123585020-G-A		not specified	Uncertain significance (Dec 21, 2021)
3-123585021-C-A		not specified	Uncertain significance (Dec 21, 2021)
3-123612296-T-C		Aortic aneurysm, familial thoracic 7	Benign (Jul 03, 2018)
3-123612434-T-A		Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Jun 14, 2016)
3-123612452-C-T		Aortic aneurysm, familial thoracic 7 • Aortic aneurysm, familial thoracic 7;Megacystis-microcolon-intestinal hypoperistalsis syndrome 1	Uncertain significance (Sep 01, 2021)
3-123612458-C-G		Aortic aneurysm, familial thoracic 7	Uncertain significance (Jan 13, 2018)
3-123612475-C-T		Aortic aneurysm, familial thoracic 7	Uncertain significance (Jan 13, 2018)
3-123612529-C-T		Aortic aneurysm, familial thoracic 7	Uncertain significance (Jan 13, 2018)
3-123612567-T-C		Aortic aneurysm, familial thoracic 7	Benign (Jan 13, 2018)
3-123612579-G-T		Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Jun 14, 2016)
3-123612586-A-G		Aortic aneurysm, familial thoracic 7	Uncertain significance (Jan 12, 2018)
3-123612593-A-ATAT		Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Jun 14, 2016)
3-123612596-T-C		Aortic aneurysm, familial thoracic 7	Uncertain significance (Jan 12, 2018)
3-123612803-A-G		Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Jun 14, 2016)
3-123612839-TACAC-T		Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Jun 14, 2016)
3-123612895-A-G		Aortic aneurysm, familial thoracic 7	Uncertain significance (Jan 13, 2018)
3-123612914-A-G		Aortic aneurysm, familial thoracic 7 • Aortic aneurysm, familial thoracic 7;Megacystis-microcolon-intestinal hypoperistalsis syndrome 1	Uncertain significance (Aug 09, 2021)
3-123612927-T-TTAAG		Familial thoracic aortic aneurysm and aortic dissection	Conflicting classifications of pathogenicity (Jun 14, 2016)
3-123612928-TA-T		Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Jun 14, 2016)
3-123612970-C-T		Aortic aneurysm, familial thoracic 7	Likely benign (Jan 13, 2018)
3-123612971-G-A		Aortic aneurysm, familial thoracic 7	Likely benign (Jan 12, 2018)
3-123613015-T-C		Aortic aneurysm, familial thoracic 7	Likely benign (Jan 12, 2018)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP