SLC16A12-AS1

SLC16A12 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 10:89432116-89468140

Links

ENSG00000234452 ∙ NCBI:101926906 ∙ ∙ HGNC:51205 ∙ ∙ ∙ 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 SLC16A12-AS1 gene.

• not provided (6 variants)
• Inborn genetic diseases (2 variants)
• Juvenile cataract-microcornea-renal glucosuria syndrome (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLC16A12-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			5	1	2	8
Total	0	0	5	1	2

Variants in SLC16A12-AS1

This is a list of pathogenic ClinVar variants found in the SLC16A12-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
10-89432879-G-T			Likely benign (Jun 28, 2018)
10-89432902-A-T			Benign (Jul 05, 2019)
10-89433073-G-T			Uncertain significance (May 22, 2023)
10-89433096-C-T		not specified	Uncertain significance (Jan 08, 2024)
10-89433129-T-C		not specified • SLC16A12-related disorder	Uncertain significance (Sep 16, 2021)
10-89433134-A-C			Uncertain significance (May 24, 2022)
10-89433149-G-A		Juvenile cataract-microcornea-renal glucosuria syndrome	Uncertain significance (Apr 30, 2024)
10-89433159-T-C		Juvenile cataract-microcornea-renal glucosuria syndrome	Uncertain significance (May 17, 2024)
10-89433171-G-T		not specified	Uncertain significance (Nov 20, 2024)
10-89433174-T-G			Uncertain significance (Oct 03, 2023)
10-89433200-T-C		not specified	Likely benign (Jul 14, 2024)
10-89433217-C-T		not specified • Juvenile cataract-microcornea-renal glucosuria syndrome	Uncertain significance (Feb 12, 2024)
10-89433261-A-G		Juvenile cataract-microcornea-renal glucosuria syndrome	Uncertain significance (Jun 04, 2024)
10-89433263-A-G		not specified	Uncertain significance (Mar 29, 2022)
10-89433297-T-G		not specified	Uncertain significance (Aug 12, 2021)
10-89433324-G-A		not specified	Likely benign (Aug 17, 2022)
10-89433565-T-C			Benign (Jun 28, 2018)
10-89436093-C-A		Juvenile cataract-microcornea-renal glucosuria syndrome	Uncertain significance (Mar 30, 2024)
10-89436093-C-T		Juvenile cataract-microcornea-renal glucosuria syndrome	Uncertain significance (Jun 01, 2024)
10-89436108-C-T		Juvenile cataract-microcornea-renal glucosuria syndrome	Uncertain significance (Apr 05, 2024)
10-89436118-C-T		SLC16A12-related disorder	Likely benign (Oct 21, 2022)
10-89436129-A-G			Likely benign (Aug 10, 2023)
10-89436131-G-C		Juvenile cataract-microcornea-renal glucosuria syndrome • SLC16A12-related disorder	Benign/Likely benign (Apr 08, 2022)
10-89436141-C-T		not specified	Uncertain significance (Oct 01, 2024)
10-89436201-A-G		Juvenile cataract-microcornea-renal glucosuria syndrome	Uncertain significance (May 21, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP