DIAPH3-AS1

DIAPH3 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 13:60012709-60044357

Links

ENSG00000227528 ∙ ∙ ∙ HGNC:39915 ∙ ∙ ∙ 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 DIAPH3-AS1 gene.

• not provided (22 variants)
• Autosomal dominant auditory neuropathy 1 (2 variants)
• not specified (1 variants)
• Hearing impairment (1 variants)
• Inborn genetic diseases (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DIAPH3-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			9	9	7	25
Total	0	0	9	9	7

Variants in DIAPH3-AS1

This is a list of pathogenic ClinVar variants found in the DIAPH3-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
13-60015625-A-G			Likely benign (May 18, 2019)
13-60015851-C-T			Likely benign (Jun 29, 2018)
13-60015901-G-A			Likely benign (Nov 13, 2023)
13-60015912-C-T			Uncertain significance (Feb 09, 2022)
13-60015916-C-T			Likely benign (Aug 01, 2022)
13-60015968-A-G		not specified	Uncertain significance (Oct 03, 2024)
13-60015973-T-A			Benign (Dec 27, 2023)
13-60015994-T-C			Likely benign (Nov 03, 2023)
13-60016071-A-G			Conflicting classifications of pathogenicity (Dec 07, 2023)
13-60016083-A-C		not specified	Uncertain significance (Sep 25, 2024)
13-60016086-A-G			Uncertain significance (Nov 07, 2023)
13-60016087-G-A			Likely benign (Jul 26, 2022)
13-60016087-G-C			Uncertain significance (Aug 16, 2022)
13-60016126-G-A			Uncertain significance (Aug 03, 2022)
13-60016126-G-T			Uncertain significance (Nov 13, 2023)
13-60016149-A-G			Likely benign (Sep 13, 2022)
13-60016165-C-T		Autosomal dominant auditory neuropathy 1 • not specified	Benign (Jan 31, 2024)
13-60016173-C-T			Benign (Jun 24, 2018)
13-60016413-C-T			Likely benign (Dec 26, 2019)
13-60016416-G-C			Benign (Dec 12, 2018)
13-60016443-A-C			Benign (Nov 10, 2018)
13-60042494-C-CCTGAGCAATGTACCA			Likely benign (Dec 10, 2018)
13-60042676-A-G		Autosomal dominant auditory neuropathy 1	Conflicting classifications of pathogenicity (Mar 21, 2024)
13-60042706-T-C		not specified	Uncertain significance (Mar 22, 2023)
13-60042718-G-A		Autosomal dominant auditory neuropathy 1	Uncertain significance (Jul 19, 2019)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP