SLC25A21-AS1

SLC25A21 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 14:37171888-37173811

Links

ENSG00000258708 ∙ NCBI:100129794 ∙ ∙ HGNC:44298 ∙ ∙ ∙ 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 SLC25A21-AS1 gene.

• not provided (3 variants)
• Inborn genetic diseases (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLC25A21-AS1 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						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			2	2		4
Total	0	0	2	2	0

Variants in SLC25A21-AS1

This is a list of pathogenic ClinVar variants found in the SLC25A21-AS1 region.

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

Position	Type	Phenotype	Significance	ClinVar
14-37172266-G-A			Likely benign (Jul 27, 2022)
14-37172272-T-C			Likely benign (Apr 16, 2023)
14-37172285-A-G			Likely benign (Mar 17, 2024)
14-37172289-C-G		SLC25A21-related disorder	Likely benign (Apr 14, 2023)
14-37172299-C-A		not specified	Conflicting classifications of pathogenicity (Jul 30, 2024)
14-37172300-G-C			Uncertain significance (May 25, 2022)
14-37172308-G-A		Mitochondrial DNA depletion syndrome 18	Uncertain significance (May 20, 2023)
14-37172313-G-A			Uncertain significance (Apr 15, 2024)
14-37172313-G-T		not specified	Uncertain significance (Jun 26, 2024)
14-37172332-C-T		not specified	Uncertain significance (May 10, 2022)
14-37172336-A-G			Likely benign (Feb 04, 2023)
14-37172345-G-A			Likely benign (May 08, 2024)
14-37172557-A-G			Likely benign (Mar 01, 2025)
14-37172560-G-T			Benign (Dec 01, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SLC25A21-AS1	protein_coding	protein_coding	ENST00000556667	1	1924

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	0.358	48	55.5	0.865	0.00000250	554
Missense in Polyphen
Synonymous	0.228	25	26.5	0.944	0.00000119	216
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

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.146
• ghis: 0.397

Gene Damage Prediction

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