C1GALT1C1L

C1GALT1 specific chaperone 1 like

Basic information

Region (hg38): 2:43675151-43676429

Links

ENSG00000223658 ∙ NCBI:728819 ∙ ∙ HGNC:51617 ∙ Uniprot:P0DN25 ∙ 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 C1GALT1C1L gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the C1GALT1C1L 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			25			25
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	25	0	0

Variants in C1GALT1C1L

This is a list of pathogenic ClinVar variants found in the C1GALT1C1L region.

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

Position	Type	Phenotype	Significance	ClinVar
2-43675415-G-A		not specified	Uncertain significance (Jan 22, 2024)
2-43675449-G-A		not specified	Uncertain significance (Feb 10, 2022)
2-43675458-C-G		not specified	Uncertain significance (Jan 17, 2024)
2-43675575-G-T		not specified	Uncertain significance (Jun 23, 2021)
2-43675578-C-T		not specified	Uncertain significance (Feb 03, 2022)
2-43675584-G-T		not specified	Uncertain significance (May 04, 2022)
2-43675590-T-C		not specified	Uncertain significance (Dec 19, 2022)
2-43675769-A-G		not specified	Uncertain significance (Apr 16, 2024)
2-43675788-C-T		not specified	Uncertain significance (Jan 05, 2022)
2-43675794-C-T		not specified	Uncertain significance (Sep 23, 2023)
2-43675827-A-G		not specified	Uncertain significance (Jun 10, 2024)
2-43675871-T-C		not specified	Uncertain significance (Mar 07, 2024)
2-43675877-A-G		not specified	Uncertain significance (Dec 16, 2022)
2-43675887-A-T		not specified	Uncertain significance (Dec 14, 2021)
2-43675898-A-C		not specified	Uncertain significance (Feb 27, 2024)
2-43675905-G-A		not specified	Uncertain significance (Nov 07, 2023)
2-43675924-G-T		not specified	Uncertain significance (Jun 07, 2024)
2-43675952-T-G		not specified	Uncertain significance (Jun 24, 2022)
2-43675966-C-G		not specified	Uncertain significance (Dec 15, 2023)
2-43675975-C-G		not specified	Uncertain significance (May 31, 2022)
2-43675997-A-G		not specified	Uncertain significance (Mar 30, 2024)
2-43676000-A-G		not specified	Uncertain significance (Jan 02, 2024)
2-43676045-T-C		not specified	Uncertain significance (Oct 18, 2021)
2-43676172-T-G		not specified	Uncertain significance (May 30, 2023)
2-43676202-C-G		not specified	Uncertain significance (Sep 12, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Gene ontology

• Biological process: O-glycan processing, core 1
• Cellular component: integral component of membrane
• Molecular function: glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity