TROAP-AS1

TROAP and PRPH antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 12:49287529-49324576

Links

ENSG00000258334 ∙ NCBI:101927267 ∙ ∙ HGNC:55453 ∙ ∙ ∙ 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 TROAP-AS1 gene.

• not provided (40 variants)
• Inborn genetic diseases (21 variants)
• not specified (3 variants)
• Amyotrophic lateral sclerosis type 1 (2 variants)
• Amyotrophic lateral sclerosis, susceptibility to (2 variants)
• Amyotrophic lateral sclerosis (1 variants)
• Amyotrophic lateral sclerosis type 10 (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TROAP-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	28	9	13	51
Total	0	1	28	9	13

Highest pathogenic variant AF is 0.0000131

Variants in TROAP-AS1

This is a list of pathogenic ClinVar variants found in the TROAP-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
12-49295097-C-G			Benign (Oct 02, 2018)
12-49295177-G-C			Benign (Sep 29, 2018)
12-49295178-G-C			not provided (-)
12-49295205-G-C		Inborn genetic diseases	Uncertain significance (May 06, 2024)
12-49295216-T-C		Inborn genetic diseases	Uncertain significance (Aug 30, 2022)
12-49295217-C-T		Inborn genetic diseases	Uncertain significance (Jun 24, 2022)
12-49295226-G-A		not specified • Amyotrophic lateral sclerosis type 1	Benign (May 01, 2024)
12-49295263-C-T		PRPH-related disorder	Likely benign (Oct 18, 2021)
12-49295269-A-G			Likely benign (May 18, 2018)
12-49295304-C-G		Inborn genetic diseases	Uncertain significance (Apr 06, 2023)
12-49295346-C-T		Inborn genetic diseases	Uncertain significance (Jun 30, 2023)
12-49295390-C-T		Amyotrophic lateral sclerosis	Uncertain significance (Mar 31, 2020)
12-49295390-C-CGAGCGG			Uncertain significance (Jul 28, 2022)
12-49295428-GC-G		Amyotrophic lateral sclerosis, susceptibility to	risk factor (Oct 29, 2004)
12-49295448-C-T			Uncertain significance (Apr 16, 2021)
12-49295456-C-T			Uncertain significance (Mar 22, 2023)
12-49295512-CA-C			Uncertain significance (Oct 31, 2022)
12-49295526-C-T		Inborn genetic diseases	Uncertain significance (Jan 24, 2023)
12-49295552-C-A			Benign (Aug 02, 2018)
12-49295583-A-T		Inborn genetic diseases	Uncertain significance (Dec 11, 2023)
12-49295594-G-A		Inborn genetic diseases	Uncertain significance (Apr 24, 2024)
12-49295595-C-T		Inborn genetic diseases	Uncertain significance (Jan 23, 2024)
12-49295598-G-C			not provided (-)
12-49295616-G-A		Inborn genetic diseases	Uncertain significance (Jul 14, 2023)
12-49295621-G-T		Amyotrophic lateral sclerosis, susceptibility to • not specified • PRPH-related disorder	Conflicting classifications of pathogenicity (Oct 31, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP