SLC22A24

solute carrier family 22 member 24, the group of Solute carrier family 22

Basic information

Region (hg38): 11:63079940-63144221

Links

ENSG00000197658 ∙ NCBI:283238 ∙ OMIM:611698 ∙ HGNC:28542 ∙ Uniprot:Q8N4F4 ∙ 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 SLC22A24 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLC22A24 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	3		48
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	3	0

Variants in SLC22A24

This is a list of pathogenic ClinVar variants found in the SLC22A24 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-63079948-G-C		not specified	Uncertain significance (Oct 26, 2022)
11-63079959-A-T		not specified	Uncertain significance (Apr 23, 2024)
11-63080935-T-C		not specified	Uncertain significance (Dec 01, 2022)
11-63081046-G-A		not specified	Likely benign (Dec 21, 2023)
11-63081091-C-G		not specified	Uncertain significance (Jun 29, 2023)
11-63081113-C-A		not specified	Uncertain significance (Aug 13, 2021)
11-63081585-T-C		not specified	Uncertain significance (Nov 03, 2023)
11-63081588-T-C		not specified	Uncertain significance (Sep 09, 2021)
11-63081627-A-G		not specified	Uncertain significance (May 24, 2024)
11-63083267-G-C		not specified	Uncertain significance (Oct 13, 2023)
11-63083311-C-T		not specified	Uncertain significance (Aug 30, 2021)
11-63083315-G-A		not specified	Uncertain significance (May 16, 2022)
11-63083321-T-C		not specified	Uncertain significance (Apr 11, 2023)
11-63083348-A-G		not specified	Uncertain significance (May 06, 2024)
11-63083372-C-T		not specified	Uncertain significance (Feb 27, 2023)
11-63083374-C-T		not specified	Uncertain significance (Jun 18, 2021)
11-63083450-T-C		not specified	Uncertain significance (Jan 29, 2024)
11-63096026-T-G		not specified	Uncertain significance (Dec 17, 2023)
11-63096031-G-T		not specified	Uncertain significance (Aug 21, 2023)
11-63096037-G-A		not specified	Uncertain significance (Feb 05, 2024)
11-63096042-A-G		not specified	Uncertain significance (Mar 25, 2024)
11-63096054-G-A		not specified	Uncertain significance (May 06, 2022)
11-63096093-G-T		not specified	Uncertain significance (May 24, 2024)
11-63096103-C-G		not specified	Uncertain significance (Nov 01, 2022)
11-63104226-T-A		not specified	Uncertain significance (Jan 04, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SLC22A24	protein_coding	protein_coding	ENST00000417740	10	64282

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.79e-14	0.0148	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0984	269	274	0.983	0.0000142	3520
Missense in Polyphen		87	75.749	1.1485		1009
Synonymous	-0.685	115	106	1.08	0.00000560	1126
Loss of Function	-0.0476	21	20.8	1.01	0.00000119	251

LoF frequencies by population

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

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• pHI: 0.139
• hipred: N
• hipred_score: 0.112

Essentials

• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.355

Gene Damage Prediction

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

Gene ontology

• Biological process: ion transport;transmembrane transport
• Cellular component: integral component of membrane