ALG1L2

ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase like 2, the group of Glycosyl transferases group 1 domain containing

Basic information

Region (hg38): 3:130081831-130113227

Links

ENSG00000251287 ∙ NCBI:644974 ∙ ∙ HGNC:37258 ∙ Uniprot:C9J202 ∙ AlphaFold ∙ 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 ALG1L2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ALG1L2 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				1		1
missense			22	4		26
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	22	5	0

Variants in ALG1L2

This is a list of pathogenic ClinVar variants found in the ALG1L2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
3-130082028-T-C			Likely benign (Jun 01, 2022)
3-130091271-G-A		not specified	Uncertain significance (Dec 20, 2023)
3-130091277-G-A		not specified	Uncertain significance (Feb 06, 2023)
3-130091293-T-C		not specified	Uncertain significance (Apr 12, 2023)
3-130091304-G-A		not specified	Likely benign (Jul 15, 2021)
3-130091350-C-T		not specified	Uncertain significance (Jul 06, 2021)
3-130091368-C-T		not specified	Uncertain significance (Jan 02, 2024)
3-130092129-C-T		not specified	Uncertain significance (Apr 26, 2024)
3-130092142-C-T		not specified	Uncertain significance (Nov 27, 2024)
3-130092147-C-T		not specified	Likely benign (Oct 09, 2024)
3-130092172-C-T		not specified	Uncertain significance (Jan 22, 2024)
3-130092174-C-T		not specified	Uncertain significance (Feb 10, 2023)
3-130092175-G-A		not specified	Likely benign (Oct 27, 2022)
3-130092182-C-A		not specified	Uncertain significance (Jun 26, 2024)
3-130092186-C-G		not specified	Uncertain significance (Nov 09, 2023)
3-130092201-G-A		not specified	Uncertain significance (Jun 16, 2022)
3-130092206-C-A		not specified	Uncertain significance (Oct 10, 2023)
3-130092219-A-G		not specified	Uncertain significance (Aug 30, 2021)
3-130093129-G-C		not specified	Likely benign (Jul 20, 2021)
3-130093136-C-T		not specified	Uncertain significance (Nov 02, 2021)
3-130094411-C-A		not specified	Uncertain significance (Dec 28, 2022)
3-130094424-A-G		not specified	Uncertain significance (Aug 30, 2021)
3-130094433-G-A		not specified	Uncertain significance (Dec 13, 2023)
3-130094459-C-T		not specified	Uncertain significance (Jul 26, 2022)
3-130094502-C-A		not specified	Uncertain significance (Aug 04, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Putative glycosyltransferase. {ECO:0000250}.

Gene ontology

• Biological process: protein glycosylation;mannosylation
• Cellular component: endoplasmic reticulum
• Molecular function: mannosyltransferase activity