GOLGA6L6

golgin A6 family like 6, the group of Golgin related

Basic information

Region (hg38): 15:20531855-20541800

Links

ENSG00000277322 ∙ NCBI:727832 ∙ ∙ HGNC:37225 ∙ Uniprot:A8MZA4 ∙ 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 GOLGA6L6 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GOLGA6L6 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			57	6	1	64
nonsense						0
start loss						0
frameshift				1		1
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	57	7	1

Variants in GOLGA6L6

This is a list of pathogenic ClinVar variants found in the GOLGA6L6 region.

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

Position	Type	Phenotype	Significance	ClinVar
15-20534295-C-A		not specified	Uncertain significance (Jan 22, 2024)
15-20534332-C-T		not specified	Uncertain significance (Jan 23, 2023)
15-20534333-G-A		not specified	Uncertain significance (Sep 20, 2023)
15-20534365-T-C		not specified	Uncertain significance (Dec 26, 2023)
15-20534367-C-A		not specified	Uncertain significance (Feb 28, 2024)
15-20534384-C-T		not specified	Uncertain significance (Mar 24, 2023)
15-20534396-A-C			not provided (-)
15-20534419-A-G			not provided (-)
15-20534450-C-T		not specified	Uncertain significance (Mar 18, 2024)
15-20534458-C-T		not specified	Uncertain significance (Dec 16, 2023)
15-20534471-C-T		not specified	Uncertain significance (Jun 06, 2023)
15-20534482-A-G		not specified	Uncertain significance (Sep 07, 2022)
15-20534496-C-G		not specified	Uncertain significance (Jun 24, 2022)
15-20534506-G-A		not specified	Uncertain significance (Oct 19, 2021)
15-20534522-G-T		not specified	Uncertain significance (Oct 06, 2021)
15-20534525-T-A		not specified	Uncertain significance (Apr 30, 2024)
15-20534564-C-A		not specified	Uncertain significance (Apr 04, 2024)
15-20534565-C-A		not specified	Uncertain significance (Aug 17, 2021)
15-20534587-G-A		not specified	Benign (Mar 28, 2016)
15-20534651-T-A		not specified	Uncertain significance (Dec 20, 2022)
15-20534675-T-C		not specified	Uncertain significance (Oct 25, 2023)
15-20534681-C-T		not specified	Uncertain significance (Jan 18, 2023)
15-20534687-T-C		not specified	Uncertain significance (Dec 17, 2023)
15-20534690-A-C		not specified	Uncertain significance (Mar 04, 2024)
15-20534713-C-T		not specified	Uncertain significance (Nov 08, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.112

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium