CDH3-AS1

CDH3 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 16:68644248-68646168

Links

ENSG00000260577 ∙ ∙ ∙ HGNC:56084 ∙ ∙ ∙ 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 CDH3-AS1 gene.

• not provided (46 variants)
• EEM syndrome (28 variants)
• Inborn genetic diseases (5 variants)
• Congenital hypotrichosis with juvenile macular dystrophy (2 variants)
• Retinitis pigmentosa (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CDH3-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)			1			1
splice region						0
non coding	2	4	40	18	5	69
Total	2	4	41	18	5

Highest pathogenic variant AF is 0.0000131

Variants in CDH3-AS1

This is a list of pathogenic ClinVar variants found in the CDH3-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
16-68644295-A-G		EEM syndrome	Uncertain significance (Jun 14, 2016)
16-68644397-A-G		EEM syndrome	Uncertain significance (Jun 14, 2016)
16-68644701-T-C		EEM syndrome	Uncertain significance (Jun 14, 2016)
16-68644734-C-CA		EEM syndrome	Uncertain significance (Jun 14, 2016)
16-68644735-C-CA		EEM syndrome	Benign (Jun 14, 2016)
16-68644745-AAAAAAAG-A		EEM syndrome	Uncertain significance (Jun 14, 2016)
16-68644745-A-AG		EEM syndrome	Uncertain significance (Jun 14, 2016)
16-68644746-A-AG		EEM syndrome	Uncertain significance (Jun 14, 2016)
16-68644752-G-A		EEM syndrome	Uncertain significance (Jun 14, 2016)
16-68644759-G-A		EEM syndrome	Uncertain significance (Jun 14, 2016)
16-68644843-A-G		EEM syndrome	Benign (Jun 14, 2016)
16-68644981-G-C		EEM syndrome	Likely benign (Jun 14, 2016)
16-68645078-C-T		EEM syndrome	Uncertain significance (Jun 14, 2016)
16-68645098-G-T		EEM syndrome	Uncertain significance (Jun 14, 2016)
16-68645113-C-T		EEM syndrome	Uncertain significance (Jun 14, 2016)
16-68645187-G-T		EEM syndrome	Uncertain significance (Jun 14, 2016)
16-68645239-C-G		EEM syndrome	Uncertain significance (Jun 14, 2016)
16-68645240-G-T		EEM syndrome	Uncertain significance (Jun 14, 2016)
16-68645308-T-C		EEM syndrome	Uncertain significance (Jun 14, 2016)
16-68645344-C-T		EEM syndrome	Uncertain significance (Jan 12, 2018)
16-68645365-CCT-C		CDH3-related disorder	Likely benign (Aug 06, 2019)
16-68645369-T-C		EEM syndrome	Uncertain significance (Jan 13, 2018)
16-68645382-G-A		Retinitis pigmentosa	Likely pathogenic (Apr 01, 2018)
16-68645383-G-C		Inborn genetic diseases	Uncertain significance (Dec 21, 2023)
16-68645385-G-A			Likely benign (Jan 19, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP