SYNPO2L-AS1

SYNPO2L antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 10:73647529-73676496

Links

ENSG00000271848 ∙ NCBI:105378360 ∙ ∙ HGNC:55242 ∙ ∙ ∙ 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 SYNPO2L-AS1 gene.

• Inborn genetic diseases (15 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SYNPO2L-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			15			15
Total	0	0	15	0	0

Variants in SYNPO2L-AS1

This is a list of pathogenic ClinVar variants found in the SYNPO2L-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
10-73647531-A-AG			Uncertain significance (Mar 30, 2021)
10-73647533-G-A		not specified	Uncertain significance (Apr 18, 2023)
10-73647533-G-T		not specified	Uncertain significance (Dec 03, 2024)
10-73647583-A-G		not specified	Uncertain significance (May 05, 2023)
10-73647602-A-T		not specified	Uncertain significance (Aug 11, 2024)
10-73647632-C-G		not specified	Uncertain significance (Oct 04, 2024)
10-73647658-G-A		not specified	Uncertain significance (Dec 20, 2021)
10-73647666-C-A		not specified	Uncertain significance (Nov 24, 2024)
10-73647814-C-A		not specified	Uncertain significance (Nov 08, 2024)
10-73647857-G-C		not specified	Uncertain significance (Apr 10, 2023)
10-73647884-G-A		not specified	Uncertain significance (Dec 11, 2023)
10-73647914-C-T		not specified	Uncertain significance (May 30, 2024)
10-73647926-T-C		not specified	Uncertain significance (Mar 28, 2023)
10-73647992-C-T		not specified	Uncertain significance (Sep 07, 2022)
10-73648081-C-T		not specified	Uncertain significance (Jun 21, 2023)
10-73648138-G-A		not specified	Uncertain significance (May 25, 2022)
10-73648141-G-T		not specified	Uncertain significance (Dec 18, 2023)
10-73648210-G-C		not specified	Uncertain significance (Dec 03, 2024)
10-73648216-C-A		not specified	Uncertain significance (Nov 13, 2024)
10-73648267-C-A		not specified	Uncertain significance (Dec 15, 2023)
10-73648306-G-C		not specified	Uncertain significance (Apr 24, 2024)
10-73648370-C-G		not specified	Uncertain significance (Oct 04, 2022)
10-73648382-G-A		not specified	Uncertain significance (Oct 05, 2023)
10-73648382-G-C		not specified	Uncertain significance (May 04, 2023)
10-73648424-G-A		not specified	Uncertain significance (Nov 21, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP