PROSER2-AS1

PROSER2 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 10:11849608-11902519

Links

ENSG00000225778 ∙ NCBI:219731 ∙ ∙ HGNC:27343 ∙ ∙ ∙ 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 PROSER2-AS1 gene.

• Inborn genetic diseases (36 variants)
• not provided (9 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PROSER2-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			34	5	6	45
Total	0	0	34	5	6

Variants in PROSER2-AS1

This is a list of pathogenic ClinVar variants found in the PROSER2-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
10-11852094-G-A		not specified	Likely benign (Nov 29, 2024)
10-11852102-G-A		not specified	Uncertain significance (Feb 20, 2025)
10-11852130-C-T		not specified	Uncertain significance (Jan 16, 2024)
10-11852148-G-A		not specified	Uncertain significance (Dec 04, 2024)
10-11852178-G-A		not specified	Uncertain significance (May 31, 2023)
10-11852196-G-A			Likely benign (Jun 13, 2018)
10-11852223-A-G			Benign (Dec 31, 2019)
10-11866586-T-C		not specified	Uncertain significance (Feb 07, 2025)
10-11866595-C-T		not specified	Uncertain significance (Feb 07, 2025)
10-11866655-G-A		not specified	Uncertain significance (Oct 01, 2024)
10-11866672-C-T			Benign (Dec 20, 2018)
10-11866693-C-T		not specified	Uncertain significance (Oct 17, 2023)
10-11866714-A-G		not specified	Uncertain significance (Aug 02, 2021)
10-11866717-G-A		not specified	Uncertain significance (Jan 24, 2025)
10-11866735-C-G		not specified	Uncertain significance (Jan 19, 2025)
10-11866744-G-A		not specified	Likely benign (Apr 25, 2023)
10-11869499-C-G		not specified	Uncertain significance (Sep 01, 2024)
10-11869512-G-C		not specified	Uncertain significance (Jan 01, 2025)
10-11869535-C-T		not specified	Uncertain significance (Feb 16, 2023)
10-11869536-T-G			Likely benign (Feb 05, 2018)
10-11869577-C-A		not specified	Uncertain significance (Nov 22, 2023)
10-11869610-C-G		not specified	Uncertain significance (Jan 17, 2024)
10-11869636-C-G		not specified	Uncertain significance (Sep 03, 2024)
10-11869637-C-G		not specified	Uncertain significance (Jan 29, 2024)
10-11869661-T-A		not specified	Uncertain significance (Dec 27, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP