SIAH2-AS1

SIAH2 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 3:150761926-151080726

Links

ENSG00000244265 ∙ ∙ ∙ HGNC:40526 ∙ ∙ ∙ 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 SIAH2-AS1 gene.

• Inborn genetic diseases (8 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SIAH2-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			8			8
Total	0	0	8	0	0

Variants in SIAH2-AS1

This is a list of pathogenic ClinVar variants found in the SIAH2-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
3-150762621-G-A		not specified	Uncertain significance (Nov 15, 2024)
3-150762626-G-A		not specified	Uncertain significance (Nov 17, 2022)
3-150762650-A-C		not specified	Uncertain significance (Aug 04, 2024)
3-150762662-C-A		not specified	Uncertain significance (Apr 12, 2024)
3-150762720-C-T		not specified	Uncertain significance (Jun 24, 2022)
3-150762728-G-C		not specified	Uncertain significance (Nov 12, 2024)
3-150762756-G-A		not specified	Uncertain significance (Mar 16, 2022)
3-150762770-G-C		not specified	Uncertain significance (Jul 25, 2024)
3-150762803-C-T		not specified	Uncertain significance (Apr 07, 2023)
3-150762809-G-T		not specified	Uncertain significance (Feb 16, 2023)
3-150762815-T-C		not specified	Uncertain significance (Jul 06, 2021)
3-150762819-C-A		not specified	Uncertain significance (Sep 17, 2021)
3-150762831-T-G		not specified	Uncertain significance (Sep 26, 2022)
3-150926605-G-A		Usher syndrome type 3	Uncertain significance (Jan 12, 2018)
3-150926606-A-G		Usher syndrome type 3	Likely benign (Jan 12, 2018)
3-150926674-C-T		Usher syndrome type 3	Uncertain significance (Jan 12, 2018)
3-150926745-A-G		Usher syndrome type 3	Likely benign (Sep 25, 2019)
3-150926755-A-G		Usher syndrome type 3	Uncertain significance (Jan 12, 2018)
3-150926771-G-C		Usher syndrome type 3	Uncertain significance (Jan 13, 2018)
3-150926897-T-A		Usher syndrome type 3	Conflicting classifications of pathogenicity (Jul 28, 2020)
3-150926898-C-T		Usher syndrome type 3 • Usher syndrome type 3A	Conflicting classifications of pathogenicity (Jan 01, 2023)
3-150926904-A-G		Usher syndrome type 3	Uncertain significance (Jan 13, 2018)
3-150926909-A-C		Usher syndrome type 3	Likely benign (Jul 12, 2019)
3-150926972-G-A		Usher syndrome type 3	Benign (Dec 18, 2018)
3-150927052-T-G		Usher syndrome type 3	Benign (Jun 14, 2018)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP