SYP-AS1

SYP antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): X:49198833-49202457

Links

ENSG00000237341 ∙ ∙ ∙ HGNC:40571 ∙ ∙ ∙ 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 SYP-AS1 gene.

• not provided (5 variants)
• Intellectual disability, X-linked 96 (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 SYP-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		1	6	2		9
Total	0	1	6	2	0

Highest pathogenic variant AF is 0.00000886

Variants in SYP-AS1

This is a list of pathogenic ClinVar variants found in the SYP-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
X-49199009-C-G		not specified	Uncertain significance (May 24, 2023)
X-49199009-C-T		Intellectual disability, X-linked 96 • Inborn genetic diseases	Uncertain significance (Feb 12, 2024)
X-49199016-C-G		Intellectual disability, X-linked 96	Uncertain significance (Nov 08, 2018)
X-49199016-C-T			Likely benign (-)
X-49199017-T-C			Uncertain significance (Apr 07, 2023)
X-49199021-C-T		Intellectual disability, X-linked 96	Uncertain significance (-)
X-49199024-C-G			Uncertain significance (Jan 21, 2022)
X-49200146-C-T			Uncertain significance (Sep 05, 2024)
X-49200156-T-G			Uncertain significance (Nov 29, 2021)
X-49200176-A-C		Inborn genetic diseases	Uncertain significance (Oct 25, 2024)
X-49200176-A-G		Inborn genetic diseases	Uncertain significance (Jun 02, 2024)
X-49200182-A-T		not specified	Conflicting classifications of pathogenicity (Oct 01, 2024)
X-49200184-C-T		not specified	Uncertain significance (Sep 17, 2024)
X-49200185-A-G		Intellectual disability, X-linked 96	Likely pathogenic (Feb 09, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP