B4GALT1-AS1

B4GALT1 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 9:33166789-33182865

Links

ENSG00000233554 ∙ NCBI:101929639 ∙ ∙ HGNC:49910 ∙ ∙ ∙ 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 B4GALT1-AS1 gene.

• not provided (11 variants)
• not specified (2 variants)
• B4GALT1-congenital disorder of glycosylation (2 variants)
• Inborn genetic diseases (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the B4GALT1-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			7	9		16
Total	0	0	7	9	0

Variants in B4GALT1-AS1

This is a list of pathogenic ClinVar variants found in the B4GALT1-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
9-33166813-C-A		B4GALT1-related disorder	Likely benign (Sep 12, 2023)
9-33166842-G-T			Uncertain significance (Jan 03, 2019)
9-33166892-T-G		Inborn genetic diseases	Uncertain significance (Sep 16, 2021)
9-33166911-G-A		B4GALT1-congenital disorder of glycosylation • not specified	Conflicting classifications of pathogenicity (Nov 06, 2023)
9-33166913-G-A			Uncertain significance (Jun 29, 2023)
9-33166941-G-A		Inborn genetic diseases	Uncertain significance (Dec 21, 2023)
9-33166978-C-T			Likely benign (May 14, 2018)
9-33166984-G-C			Likely benign (Sep 03, 2020)
9-33166990-C-T			Likely benign (Oct 14, 2022)
9-33167027-C-T		Inborn genetic diseases	Uncertain significance (Jan 02, 2024)
9-33167058-G-A		Inborn genetic diseases	Uncertain significance (Feb 22, 2023)
9-33167074-C-T		B4GALT1-related disorder	Likely benign (Jun 20, 2022)
9-33167086-G-A		not specified • B4GALT1-related disorder	Likely benign (Aug 19, 2016)
9-33167103-A-G		Inborn genetic diseases	Uncertain significance (Oct 09, 2024)
9-33167109-G-A		B4GALT1-congenital disorder of glycosylation	Uncertain significance (Apr 10, 2018)
9-33167116-G-C			Likely benign (Apr 23, 2018)
9-33167120-G-A		Inborn genetic diseases	Uncertain significance (Mar 27, 2024)
9-33167131-C-A		B4GALT1-related disorder	Likely benign (Jan 27, 2020)
9-33167142-C-A			Uncertain significance (Sep 28, 2022)
9-33167143-G-T		B4GALT1-related disorder	Likely benign (Nov 27, 2023)
9-33167160-G-A			Uncertain significance (Apr 10, 2019)
9-33167165-C-G		B4GALT1-congenital disorder of glycosylation	Uncertain significance (Jun 14, 2022)
9-33167175-C-T		B4GALT1-related disorder	Likely benign (Feb 26, 2019)
9-33167204-C-A		not specified	Likely benign (Jun 16, 2017)
9-33167270-G-A			Likely benign (May 16, 2021)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP