EFCAB6-AS1

EFCAB6 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 22:43516107-43560063

Links

ENSG00000223843 ∙ NCBI:100874197 ∙ ∙ HGNC:39999 ∙ ∙ ∙ 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 EFCAB6-AS1 gene.

• Inborn genetic diseases (18 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the EFCAB6-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			17	2		19
Total	0	0	17	2	0

Variants in EFCAB6-AS1

This is a list of pathogenic ClinVar variants found in the EFCAB6-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
22-43528872-A-C		not specified	Uncertain significance (Mar 19, 2024)
22-43528919-C-G		not specified	Uncertain significance (May 29, 2024)
22-43530828-G-A		not specified	Uncertain significance (Feb 06, 2023)
22-43530919-G-A		not specified	Uncertain significance (May 24, 2023)
22-43530927-G-C		not specified	Uncertain significance (Jun 19, 2024)
22-43530946-T-A		not specified	Uncertain significance (May 30, 2024)
22-43530955-C-T		not specified	Uncertain significance (May 18, 2022)
22-43534719-T-C		not specified	Uncertain significance (Nov 09, 2022)
22-43534779-T-C		not specified	Uncertain significance (Dec 28, 2023)
22-43534842-C-T		not specified	Uncertain significance (Jul 30, 2023)
22-43537388-G-A		not specified	Uncertain significance (Jun 11, 2021)
22-43537393-G-A		not specified	Likely benign (Apr 04, 2024)
22-43537437-T-C		not specified	Uncertain significance (Oct 16, 2023)
22-43537472-C-T		not specified	Uncertain significance (Oct 05, 2023)
22-43537477-C-A			Likely benign (Apr 01, 2023)
22-43537511-G-A		not specified	Uncertain significance (Feb 05, 2024)
22-43537527-C-T		not specified	Uncertain significance (Mar 25, 2022)
22-43540131-G-T		not specified	Uncertain significance (Feb 21, 2024)
22-43540143-G-A		not specified	Uncertain significance (Jan 02, 2024)
22-43540207-C-T		not specified	Likely benign (Nov 15, 2021)
22-43540225-C-A		not specified	Uncertain significance (Dec 12, 2023)
22-43540326-T-C		not specified	Uncertain significance (Mar 17, 2023)
22-43540349-T-G		not specified	Uncertain significance (Jun 11, 2021)
22-43540354-C-T		not specified	Uncertain significance (Feb 27, 2023)
22-43554892-C-T		not specified	Uncertain significance (Sep 30, 2021)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP