CERS3-AS1

CERS3 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 15:100372936-100437914

Links

ENSG00000259430 ∙ NCBI:102723320 ∙ ∙ HGNC:51431 ∙ ∙ ∙ 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 CERS3-AS1 gene.

• not provided (11 variants)
• Inborn genetic diseases (3 variants)
• Autosomal recessive congenital ichthyosis 9 (2 variants)
• not specified (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CERS3-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	3	5	13
Total	0	0	5	3	5

Variants in CERS3-AS1

This is a list of pathogenic ClinVar variants found in the CERS3-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
15-100402638-G-T		Autosomal recessive congenital ichthyosis 9	Benign (Jul 22, 2021)
15-100402722-A-G			Likely benign (Sep 01, 2022)
15-100402745-G-A		Inborn genetic diseases	Uncertain significance (Jul 31, 2023)
15-100402747-C-T			Benign (Dec 12, 2023)
15-100402757-T-C		Autosomal recessive congenital ichthyosis 9	Benign (Jan 29, 2024)
15-100402757-TG-CA			Uncertain significance (Dec 31, 2021)
15-100402763-C-T		not specified • Inborn genetic diseases	Conflicting classifications of pathogenicity (Sep 04, 2024)
15-100402806-TTCTTCC-T			Likely benign (Jan 18, 2024)
15-100402838-C-T		Inborn genetic diseases	Uncertain significance (Mar 11, 2024)
15-100402839-G-A			Benign (Dec 11, 2023)
15-100402840-T-C			Benign (Jan 25, 2024)
15-100402842-A-T		Inborn genetic diseases	Uncertain significance (Sep 14, 2022)
15-100402866-C-T			Uncertain significance (Mar 25, 2022)
15-100402950-G-T		Autosomal recessive congenital ichthyosis 9	Uncertain significance (Oct 06, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP