ST7-AS2

ST7 antisense RNA 2, the group of Antisense RNAs

Basic information

Region (hg38): 7:117072072-117146480

Previous symbols: [ "ST7OT2" ]

Links

ENSG00000226367 ∙ NCBI:93654 ∙ ∙ HGNC:16044 ∙ ∙ ∙ 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 ST7-AS2 gene.

• not provided (2 variants)
• Inborn genetic diseases (2 variants)
• Global developmental delay;Intractable seizure;Brain atrophy (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ST7-AS2 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			2	1	1	4
Total	0	1	2	1	1

Variants in ST7-AS2

This is a list of pathogenic ClinVar variants found in the ST7-AS2 region.

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

Position	Type	Phenotype	Significance	ClinVar
7-117130491-G-A		not specified	Likely benign (Apr 17, 2024)
7-117130530-T-G		Global developmental delay;Intractable seizure;Brain atrophy	Likely pathogenic (Dec 01, 2014)
7-117130581-G-A			Benign (Dec 31, 2019)
7-117130604-C-G		not specified	Uncertain significance (Oct 05, 2023)
7-117136188-G-A		not specified	Uncertain significance (Mar 23, 2022)
7-117136204-A-G			Likely benign (Dec 31, 2019)
7-117138501-G-A		not specified	Uncertain significance (Jan 23, 2024)
7-117138504-C-T		not specified	Uncertain significance (Aug 22, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP