SLC35G3

solute carrier family 35 member G3, the group of Solute carrier family 35

Basic information

Region (hg38): 17:35192520-35194393

Previous symbols: [ "TMEM21A", "AMAC1" ]

Links

ENSG00000164729 ∙ NCBI:146861 ∙ ∙ HGNC:26848 ∙ Uniprot:Q8N808 ∙ 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 SLC35G3 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLC35G3 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			45			45
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	45	0	0

Variants in SLC35G3

This is a list of pathogenic ClinVar variants found in the SLC35G3 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-35193307-C-T		not specified	Uncertain significance (May 01, 2024)
17-35193319-C-T		not specified	Uncertain significance (Mar 11, 2022)
17-35193351-G-C		not specified	Uncertain significance (Jan 04, 2024)
17-35193362-C-A		not specified	Uncertain significance (Jul 17, 2023)
17-35193365-C-G		not specified	Uncertain significance (Jun 16, 2023)
17-35193373-G-A		not specified	Uncertain significance (Sep 01, 2021)
17-35193521-C-T		not specified	Uncertain significance (Mar 27, 2023)
17-35193527-T-C		not specified	Uncertain significance (Jul 20, 2021)
17-35193616-A-C		not specified	Uncertain significance (Sep 21, 2023)
17-35193623-C-T		not specified	Uncertain significance (Aug 12, 2024)
17-35193643-A-G		not specified	Uncertain significance (Jan 27, 2022)
17-35193650-G-A		not specified	Uncertain significance (Jun 02, 2024)
17-35193656-A-G		not specified	Uncertain significance (Aug 12, 2021)
17-35193749-C-G		not specified	Uncertain significance (Oct 17, 2024)
17-35193757-G-T		not specified	Uncertain significance (Mar 05, 2025)
17-35193769-A-G		not specified	Uncertain significance (Oct 04, 2024)
17-35193798-G-C		not specified	Uncertain significance (Jan 31, 2025)
17-35193871-G-A		not specified	Uncertain significance (Mar 25, 2024)
17-35193877-A-G		not specified	Uncertain significance (Jul 14, 2023)
17-35193887-A-G		not specified	Uncertain significance (May 08, 2023)
17-35193892-G-A		not specified	Uncertain significance (May 03, 2023)
17-35193908-G-A		not specified	Uncertain significance (Feb 07, 2023)
17-35193914-T-C		not specified	Uncertain significance (May 16, 2024)
17-35193932-G-A		not specified	Uncertain significance (Nov 10, 2022)
17-35193938-C-T		not specified	Uncertain significance (Aug 15, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SLC35G3	protein_coding	protein_coding	ENST00000297307	1	1874

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.531	214	193	1.11	0.0000120	2112
Missense in Polyphen		67	68.063	0.98439		862
Synonymous	-1.84	113	90.7	1.25	0.00000611	825
Loss of Function

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish
East Asian
Finnish
European (Non-Finnish)
Middle Eastern
South Asian
Other

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: -0.25
• rvis_percentile_EVS: 36.07

Haploinsufficiency Scores

• pHI: 0.157
• hipred: N
• hipred_score: 0.112
• ghis: 0.414

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

Mouse Genome Informatics

• Gene name: Slc35g3

Gene ontology

• Cellular component: integral component of membrane