GOLGA6L10

golgin A6 family like 10, the group of Golgin related

Basic information

Region (hg38): 15:82339993-82349475

Previous symbols: [ "GOLGA6L18" ]

Links

ENSG00000278662 ∙ NCBI:647042 ∙ ∙ HGNC:37228 ∙ Uniprot:A6NI86 ∙ 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 GOLGA6L10 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GOLGA6L10 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			2	1		3
missense			28	8	2	38
nonsense						0
start loss						0
frameshift						0
inframe indel				1		1
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			1	2		3
Total	0	0	31	12	2

Variants in GOLGA6L10

This is a list of pathogenic ClinVar variants found in the GOLGA6L10 region.

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

Position	Type	Phenotype	Significance	ClinVar
15-82342810-G-A		not specified	Uncertain significance (Feb 16, 2023)
15-82342817-G-A		not specified	Uncertain significance (Dec 28, 2023)
15-82342837-T-C		not specified	Uncertain significance (Dec 27, 2023)
15-82342859-C-T		not specified	Uncertain significance (Dec 30, 2023)
15-82342868-C-G		not specified	Uncertain significance (May 09, 2023)
15-82343167-G-C		not specified	Likely benign (Sep 16, 2021)
15-82344610-G-A		not specified	Uncertain significance (Nov 10, 2024)
15-82344620-G-A		not specified	Uncertain significance (Oct 12, 2021)
15-82344626-C-T		not specified	Uncertain significance (Nov 14, 2024)
15-82344656-T-G		not specified	Uncertain significance (Oct 28, 2023)
15-82344706-C-T		not specified	Benign (Mar 28, 2016)
15-82344714-C-G		not specified	Uncertain significance (May 18, 2022)
15-82344729-C-G		not specified	Uncertain significance (Jul 25, 2023)
15-82344740-G-T		not specified	Uncertain significance (Feb 05, 2024)
15-82344746-G-A		not specified	Uncertain significance (Sep 17, 2021)
15-82344771-C-A		not specified	Uncertain significance (Mar 20, 2024)
15-82344779-C-T		not specified	Benign (Mar 28, 2016)
15-82344782-C-T		not specified	Uncertain significance (Jun 28, 2022)
15-82344842-A-C		not specified	Uncertain significance (May 23, 2024)
15-82344845-G-T		not specified	Uncertain significance (Dec 19, 2022)
15-82344851-C-G		not specified	Uncertain significance (Jul 14, 2021)
15-82344858-T-C		not specified	Uncertain significance (Sep 09, 2021)
15-82344860-C-G		not specified	Uncertain significance (Sep 09, 2021)
15-82344916-T-T		not specified	Uncertain significance (May 01, 2023)
15-82344923-G-A		not specified	Uncertain significance (Dec 16, 2021)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.139

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

Gene ontology

• Cellular component: Golgi apparatus