SLC6A17-AS1

SLC6A17 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 1:110165948-110172489

Links

ENSG00000227091 ∙ NCBI:105378897 ∙ ∙ HGNC:41279 ∙ ∙ ∙ 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 SLC6A17-AS1 gene.

• Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome (6 variants)
• not provided (5 variants)
• Inborn genetic diseases (3 variants)
• not specified (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLC6A17-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)				1		1
splice region						0
non coding			6	4	3	13
Total	0	0	6	5	3

Variants in SLC6A17-AS1

This is a list of pathogenic ClinVar variants found in the SLC6A17-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
1-110166958-G-A		Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome	Uncertain significance (Nov 30, 2018)
1-110167010-C-G			Benign (Jun 01, 2018)
1-110167093-T-C		not specified	Uncertain significance (Feb 06, 2023)
1-110167097-T-C		Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome	Benign (Jul 15, 2021)
1-110167098-G-A		Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome	Benign (Jul 15, 2021)
1-110167104-G-A		not specified	Uncertain significance (May 18, 2022)
1-110167137-A-G		not specified	Uncertain significance (Jan 04, 2024)
1-110167150-T-C		not specified	Uncertain significance (May 05, 2023)
1-110167151-T-G		not specified	Uncertain significance (Nov 13, 2024)
1-110167225-A-G		Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome • not specified	Conflicting classifications of pathogenicity (May 30, 2018)
1-110172076-C-A		not specified	Likely benign (May 17, 2016)
1-110172095-A-G		not specified	Uncertain significance (Jun 19, 2024)
1-110172100-C-T			Likely benign (Jun 13, 2018)
1-110172124-G-T		Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome	Uncertain significance (Aug 30, 2022)
1-110172144-T-C		not specified	Uncertain significance (Jan 03, 2022)
1-110172147-G-A		Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome	Uncertain significance (Aug 30, 2022)
1-110172176-A-G		not specified	Likely benign (Jul 09, 2024)
1-110172187-C-A			Likely benign (May 01, 2023)
1-110172197-A-G			Likely benign (Dec 31, 2019)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP