SLC25A41

solute carrier family 25 member 41, the group of Solute carrier family 25

Basic information

Region (hg38): 19:6426037-6433779

Links

ENSG00000181240NCBI:284427OMIM:610822HGNC:28533Uniprot:Q8N5S1AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the SLC25A41 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLC25A41 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
clinvar
2
clinvar
47
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 2 0

Variants in SLC25A41

This is a list of pathogenic ClinVar variants found in the SLC25A41 region.

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

Position Type Phenotype Significance ClinVar
19-6426421-A-G not specified Uncertain significance (Jan 29, 2025)3797135
19-6426427-C-G not specified Uncertain significance (Aug 13, 2021)2204183
19-6426444-G-A not specified Uncertain significance (Sep 18, 2024)3443482
19-6426489-C-G not specified Uncertain significance (Apr 06, 2024)3319248
19-6426516-C-T not specified Uncertain significance (Oct 22, 2021)2353156
19-6426517-G-A not specified Uncertain significance (May 30, 2024)3319247
19-6426525-A-G not specified Uncertain significance (Nov 14, 2023)3163763
19-6426529-C-T not specified Uncertain significance (Nov 11, 2024)2368559
19-6427123-C-T not specified Uncertain significance (Mar 09, 2025)3797128
19-6427165-G-A not specified Uncertain significance (Nov 24, 2024)3443486
19-6427192-A-G not specified Uncertain significance (Nov 24, 2024)3443487
19-6427351-C-T not specified Uncertain significance (Jul 06, 2021)2226963
19-6427396-C-A not specified Uncertain significance (Mar 24, 2023)2514965
19-6427461-T-A not specified Uncertain significance (Oct 17, 2023)3163762
19-6427480-A-C not specified Uncertain significance (Oct 21, 2024)3443477
19-6427488-C-T not specified Uncertain significance (Feb 15, 2023)2469695
19-6427497-A-G not specified Uncertain significance (Jan 17, 2025)3797132
19-6427501-C-T not specified Uncertain significance (Jun 17, 2024)2401127
19-6429768-A-G not specified Uncertain significance (May 18, 2023)2548730
19-6429768-A-T not specified Uncertain significance (Oct 17, 2023)3163761
19-6429783-G-A not specified Uncertain significance (Oct 13, 2023)3163759
19-6429815-C-T not specified Uncertain significance (Feb 27, 2025)3797129
19-6430017-A-T not specified Uncertain significance (Aug 14, 2024)3443484
19-6430020-C-T not specified Uncertain significance (Aug 11, 2022)2343181
19-6430052-T-C not specified Uncertain significance (Oct 06, 2024)3443483

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
SLC25A41protein_codingprotein_codingENST00000321510 77743
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
6.86e-120.035612435417321250870.00293
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.1792362281.030.00001412345
Missense in Polyphen8987.871.0129961
Synonymous0.629951030.9210.00000703785
Loss of Function-0.06831716.71.027.97e-7184

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.02160.0210
Ashkenazi Jewish0.000.00
East Asian0.0001690.000167
Finnish0.000.00
European (Non-Finnish)0.0003510.000344
Middle Eastern0.0001690.000167
South Asian0.01110.0108
Other0.0006680.000657

dbNSFP

Source: dbNSFP

Recessive Scores

pRec
0.108

Intolerance Scores

loftool
0.512
rvis_EVS
1.42
rvis_percentile_EVS
94.93

Haploinsufficiency Scores

pHI
0.0969
hipred
N
hipred_score
0.180
ghis
0.440

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
S
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.141

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Slc25a41
Phenotype

Gene ontology

Biological process
ATP transport;transmembrane transport
Cellular component
mitochondrial inner membrane;integral component of membrane
Molecular function
ATP transmembrane transporter activity