SIX3-AS1

SIX3 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 2:44940130-44945785

Links

ENSG00000236502 ∙ NCBI:100506108 ∙ ∙ HGNC:40532 ∙ ∙ ∙ 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 SIX3-AS1 gene.

• not provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SIX3-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				1	1	2
Total	0	0	0	1	1

Variants in SIX3-AS1

This is a list of pathogenic ClinVar variants found in the SIX3-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
2-44941782-C-T			Likely benign (Sep 16, 2018)
2-44941807-TCTCTCC-T			Benign (Jan 17, 2020)
2-44942103-C-G			Uncertain significance (Oct 02, 2014)
2-44942105-A-G			Likely pathogenic (Mar 06, 2018)
2-44942110-A-C		Holoprosencephaly 2	Likely benign (Oct 03, 2022)
2-44942121-C-T		Inborn genetic diseases	Uncertain significance (Mar 20, 2024)
2-44942123-C-A		Holoprosencephaly 2	Uncertain significance (Nov 27, 2023)
2-44942123-CT-C		Holoprosencephaly 2	Pathogenic/Likely pathogenic (Apr 19, 2024)
2-44942128-CCT-C			Likely pathogenic (Oct 24, 2024)
2-44942143-C-T		Holoprosencephaly 2	Likely benign (Nov 28, 2021)
2-44942145-T-G		Holoprosencephaly 2	Uncertain significance (Sep 26, 2023)
2-44942146-C-T			Likely benign (Jun 19, 2018)
2-44942147-T-C			Likely benign (Jun 08, 2018)
2-44942152-G-A		Holoprosencephaly 2	Likely benign (Aug 02, 2023)
2-44942156-A-T		Holoprosencephaly 2	Uncertain significance (Oct 23, 2021)
2-44942161-C-T		Holoprosencephaly 2	Likely benign (Feb 04, 2022)
2-44942162-G-T		Holoprosencephaly 2	Benign (Oct 13, 2023)
2-44942164-C-A		Holoprosencephaly 2	Likely benign (Apr 25, 2023)
2-44942165-G-A		Holoprosencephaly 2	Uncertain significance (May 04, 2022)
2-44942165-G-T		Inborn genetic diseases	Uncertain significance (Jun 16, 2023)
2-44942169-C-T		Holoprosencephaly 2	Uncertain significance (Oct 29, 2024)
2-44942176-C-G		Holoprosencephaly 2	Uncertain significance (Feb 28, 2024)
2-44942183-A-G		Holoprosencephaly 2	Uncertain significance (Aug 30, 2023)
2-44942190-T-C		Inborn genetic diseases • Holoprosencephaly 2	Conflicting classifications of pathogenicity (Sep 22, 2022)
2-44942194-G-T		Holoprosencephaly 2 • not specified	Benign (Feb 03, 2025)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP