EHMT2-AS1

EHMT2 and SLC44A4 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 6:31877808-31884204

Links

ENSG00000237080 ∙ NCBI:107986588 ∙ ∙ HGNC:39751 ∙ ∙ ∙ 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 EHMT2-AS1 gene.

• not provided (12 variants)
• Inborn genetic diseases (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the EHMT2-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			5	4	5	14
Total	0	0	5	4	5

Variants in EHMT2-AS1

This is a list of pathogenic ClinVar variants found in the EHMT2-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
6-31878927-C-T			Likely benign (May 08, 2023)
6-31878931-C-G			Likely benign (Sep 06, 2021)
6-31878933-A-G		SLC44A4-related disorder	Benign (Aug 30, 2023)
6-31878933-AGTCTCACC-A			Benign/Likely benign (Jul 03, 2023)
6-31878938-C-T			Uncertain significance (Aug 23, 2023)
6-31878941-C-T			Uncertain significance (Dec 11, 2023)
6-31878944-A-G			Uncertain significance (Dec 30, 2021)
6-31878948-C-A		not specified	Uncertain significance (May 17, 2023)
6-31878950-C-T			Uncertain significance (Sep 27, 2022)
6-31878959-C-T		not specified	Uncertain significance (Jan 22, 2024)
6-31878964-C-A			Benign (Jan 31, 2024)
6-31878978-C-T			Uncertain significance (Nov 04, 2023)
6-31879123-G-A			Benign (May 16, 2021)
6-31879235-C-A			Benign (May 15, 2021)
6-31880157-C-T		not specified	Uncertain significance (Jun 04, 2024)
6-31880779-C-T		not specified	Uncertain significance (Sep 20, 2023)
6-31881061-C-A		Kleefstra-like syndrome	Pathogenic (-)
6-31882754-T-A		not specified	Uncertain significance (Nov 19, 2022)
6-31883395-G-A			Likely benign (Mar 01, 2022)
6-31883816-G-C		not specified	Uncertain significance (May 13, 2024)
6-31883825-C-A		not specified	Uncertain significance (Feb 17, 2024)
6-31883845-C-T			Benign (Aug 03, 2017)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP