ZMYND10-AS1

ZMYND10 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 3:50341106-50345697

Links

ENSG00000235058 ∙ ∙ ∙ HGNC:40890 ∙ ∙ ∙ 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 ZMYND10-AS1 gene.

• Ciliary dyskinesia (142 variants)
• Primary ciliary dyskinesia 22 (17 variants)
• not provided (17 variants)
• Inborn genetic diseases (14 variants)
• ZMYND10-related condition (2 variants)
• Kartagener syndrome (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZMYND10-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	11	8	83	53	9	164
Total	11	8	83	53	9

Highest pathogenic variant AF is 0.000197

Variants in ZMYND10-AS1

This is a list of pathogenic ClinVar variants found in the ZMYND10-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
3-50341197-A-G			Benign (Nov 13, 2018)
3-50341276-C-A			Likely benign (Mar 03, 2019)
3-50341416-G-A		Primary ciliary dyskinesia	Likely benign (Sep 13, 2018)
3-50341442-C-T		Primary ciliary dyskinesia	Uncertain significance (Sep 26, 2023)
3-50341452-T-C		Primary ciliary dyskinesia	Likely benign (Jul 25, 2018)
3-50341463-C-T		Primary ciliary dyskinesia	Uncertain significance (Nov 21, 2018)
3-50341474-A-G		Inborn genetic diseases	Uncertain significance (May 22, 2023)
3-50341480-C-CT		Primary ciliary dyskinesia	Uncertain significance (Jun 12, 2017)
3-50341486-C-A		Primary ciliary dyskinesia 22	Likely pathogenic (Sep 25, 2023)
3-50341515-A-G			Benign (Nov 13, 2018)
3-50341556-G-T		Primary ciliary dyskinesia	Likely benign (Dec 04, 2022)
3-50341583-T-C		Primary ciliary dyskinesia	Uncertain significance (Sep 27, 2019)
3-50341601-C-G		Primary ciliary dyskinesia	Uncertain significance (May 07, 2022)
3-50341610-C-T		Primary ciliary dyskinesia	Uncertain significance (Sep 24, 2018)
3-50341624-T-C		Primary ciliary dyskinesia	Likely benign (Aug 10, 2023)
3-50341643-C-T		Primary ciliary dyskinesia	Uncertain significance (Aug 26, 2021)
3-50341644-G-A		Primary ciliary dyskinesia	Uncertain significance (Jun 28, 2022)
3-50341644-G-C		Primary ciliary dyskinesia	Uncertain significance (Aug 06, 2022)
3-50341649-C-T		Primary ciliary dyskinesia	Uncertain significance (Jul 27, 2022)
3-50341650-G-A		Primary ciliary dyskinesia • Primary ciliary dyskinesia 22	Uncertain significance (Mar 19, 2022)
3-50341653-C-T		Primary ciliary dyskinesia	Uncertain significance (Jul 16, 2020)
3-50341658-G-A		Primary ciliary dyskinesia	Uncertain significance (Aug 24, 2021)
3-50341666-C-T		Primary ciliary dyskinesia	Likely benign (Nov 18, 2023)
3-50341681-C-T		Primary ciliary dyskinesia	Likely benign (Oct 19, 2020)
3-50341684-G-A		Primary ciliary dyskinesia	Likely benign (Nov 20, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP