B3GALT1-AS1

B3GALT1 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 2:167814756-167941183

Links

ENSG00000235335 ∙ NCBI:105616981 ∙ ∙ HGNC:40089 ∙ ∙ ∙ 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 B3GALT1-AS1 gene.

• Inborn genetic diseases (8 variants)
• Malignant tumor of prostate (1 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the B3GALT1-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			10			10
Total	0	0	10	0	0

Variants in B3GALT1-AS1

This is a list of pathogenic ClinVar variants found in the B3GALT1-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
2-167869112-A-G		not specified	Likely benign (Feb 02, 2022)
2-167869124-A-C		not specified	Uncertain significance (May 24, 2024)
2-167869130-T-C		not specified	Uncertain significance (Feb 27, 2023)
2-167869160-C-A		not specified	Uncertain significance (Jan 05, 2022)
2-167869160-C-G		not specified	Uncertain significance (Jan 31, 2022)
2-167869203-C-G		not specified	Uncertain significance (Sep 01, 2021)
2-167869214-A-T		not specified	Uncertain significance (Oct 02, 2023)
2-167869337-A-T		not specified	Uncertain significance (Oct 03, 2023)
2-167869388-C-T		not specified	Uncertain significance (Aug 16, 2021)
2-167869409-C-T		not specified	Uncertain significance (Jan 26, 2023)
2-167869427-G-T		not specified	Uncertain significance (Jun 16, 2023)
2-167869577-AT-A		Malignant tumor of prostate	Uncertain significance (-)
2-167869592-G-A		not specified	Uncertain significance (Sep 17, 2021)
2-167869626-C-T		not specified	Uncertain significance (Nov 03, 2023)
2-167869658-G-A		not specified	Uncertain significance (Jan 19, 2024)
2-167869896-A-G			Uncertain significance (Jun 02, 2020)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP