TTC36-AS1

TTC36 and KMT2A antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 11:118510273-118531141

Links

ENSG00000255435 ∙ NCBI:101929089 ∙ ∙ HGNC:55495 ∙ ∙ ∙ 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 TTC36-AS1 gene.

• not provided (111 variants)
• Inborn genetic diseases (20 variants)
• Wiedemann-Steiner syndrome (12 variants)
• not specified (1 variants)
• Neurodevelopmental disorder (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TTC36-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)	2	1	4	1		8
splice region						0
non coding	7	3	56	51	15	132
Total	9	4	60	52	15

Variants in TTC36-AS1

This is a list of pathogenic ClinVar variants found in the TTC36-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
11-118510354-C-T			Benign (Aug 10, 2018)
11-118511666-G-A			Likely benign (Nov 15, 2018)
11-118511907-C-T			Benign (Feb 23, 2020)
11-118511932-T-C			Likely benign (Jul 07, 2023)
11-118511933-T-C			Likely benign (Sep 09, 2023)
11-118511935-C-A			Likely benign (Sep 27, 2022)
11-118511948-C-T		Inborn genetic diseases	Benign/Likely benign (Dec 09, 2023)
11-118511950-G-A		Wiedemann-Steiner syndrome	Uncertain significance (May 02, 2023)
11-118511951-A-AT		Wiedemann-Steiner syndrome	Pathogenic (May 21, 2020)
11-118511955-C-T			Likely benign (Jul 06, 2018)
11-118511963-C-G		Wiedemann-Steiner syndrome	Pathogenic (Mar 03, 2015)
11-118511970-A-T			Likely benign (Dec 08, 2021)
11-118511989-C-T		Wiedemann-Steiner syndrome	Pathogenic (Feb 18, 2022)
11-118511991-A-G			Likely benign (Oct 13, 2023)
11-118511992-T-A			Benign (Jul 22, 2021)
11-118511994-A-G			Likely benign (Nov 07, 2023)
11-118511998-GC-G		Wiedemann-Steiner syndrome	Pathogenic (Apr 14, 2022)
11-118512002-G-A			Uncertain significance (Mar 08, 2023)
11-118512002-G-C		Wiedemann-Steiner syndrome	Likely pathogenic (Apr 20, 2023)
11-118512009-G-A			Likely benign (Dec 06, 2022)
11-118512039-G-A			Likely benign (Jan 22, 2024)
11-118512045-T-A			Likely benign (Nov 23, 2022)
11-118519367-A-C			Benign (Aug 10, 2018)
11-118519583-G-A			Benign (Dec 18, 2019)
11-118519606-T-C			Likely benign (Feb 24, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP