EFNA4-EFNA3

Basic information

Region (hg38): 1:155063748-155086807

Links

ENSG00000251246 ∙ ∙ ∙ ∙ ∙ ∙ ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the EFNA4-EFNA3 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the EFNA4-EFNA3 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						0
Total	0	0	0	0	0

Variants in EFNA4-EFNA3

This is a list of pathogenic ClinVar variants found in the EFNA4-EFNA3 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
1-155063928-T-A		not specified	Uncertain significance (Dec 19, 2022)
1-155063931-C-A			Uncertain significance (May 12, 2023)
1-155063954-G-A			Likely benign (Oct 23, 2022)
1-155063955-G-A			Benign (Sep 01, 2022)
1-155066749-G-C		not specified	Uncertain significance (Oct 13, 2023)
1-155066794-C-T			Likely benign (Aug 04, 2023)
1-155066801-A-G		not specified	Uncertain significance (Mar 31, 2024)
1-155066832-G-A			Likely benign (Nov 15, 2023)
1-155066845-A-G		not specified	Uncertain significance (May 30, 2023)
1-155066891-G-A			Uncertain significance (Oct 17, 2022)
1-155066896-T-G		not specified	Uncertain significance (Mar 28, 2023)
1-155066913-C-T			Likely benign (Jul 29, 2023)
1-155066941-T-C			Uncertain significance (Dec 17, 2021)
1-155066963-C-T			Uncertain significance (May 25, 2022)
1-155066965-C-A			Likely benign (Nov 14, 2023)
1-155066976-C-T			Likely benign (Aug 24, 2023)
1-155066988-C-T			Benign/Likely benign (Nov 18, 2023)
1-155067002-C-G		not specified	Uncertain significance (Feb 28, 2023)
1-155067030-G-A			Likely benign (Jun 16, 2023)
1-155067373-G-A			Likely benign (Jan 31, 2024)
1-155067396-G-T			Uncertain significance (Sep 20, 2021)
1-155067400-G-C			Uncertain significance (Jun 10, 2023)
1-155068854-G-T			Uncertain significance (Jan 22, 2024)
1-155068855-T-A			Uncertain significance (Apr 08, 2022)
1-155068883-C-T			Uncertain significance (Jun 15, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP