RRS1-DT

RRS1 divergent transcript, the group of Divergent transcripts

Basic information

Region (hg38): 8:66209800-66432399

Previous symbols: [ "RRS1-AS1" ]

Links

ENSG00000246145 ∙ NCBI:100505676 ∙ ∙ HGNC:50465 ∙ ∙ ∙ 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 RRS1-DT gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RRS1-DT 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						0
Total	0	0	0	0	0

Variants in RRS1-DT

This is a list of pathogenic ClinVar variants found in the RRS1-DT region.

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

Position	Type	Phenotype	Significance	ClinVar
8-66429142-A-G		not specified	Uncertain significance (Mar 23, 2022)
8-66429211-A-C		not specified	Uncertain significance (Sep 08, 2024)
8-66429216-G-C		not specified	Uncertain significance (Dec 15, 2023)
8-66429240-G-A		not specified	Uncertain significance (Aug 27, 2024)
8-66429246-C-A		not specified	Uncertain significance (Feb 25, 2025)
8-66429246-C-T			Benign (Apr 26, 2018)
8-66429262-G-C		not specified	Uncertain significance (Jan 22, 2025)
8-66429276-G-C		not specified	Uncertain significance (Jun 16, 2023)
8-66429389-G-C		not specified	Uncertain significance (Jul 06, 2021)
8-66429442-C-A		not specified	Uncertain significance (Sep 20, 2023)
8-66429454-C-T		not specified	Uncertain significance (May 31, 2023)
8-66429457-G-A		not specified	Uncertain significance (May 21, 2024)
8-66429475-A-T		not specified	Uncertain significance (Oct 12, 2022)
8-66429514-A-C		not specified	Uncertain significance (May 10, 2024)
8-66429559-G-A		not specified	Uncertain significance (Oct 03, 2023)
8-66429619-A-G		not specified	Uncertain significance (Aug 17, 2021)
8-66429621-G-A		not specified	Uncertain significance (Dec 03, 2024)
8-66429651-C-T		not specified	Uncertain significance (Dec 16, 2024)
8-66429685-A-G		not specified	Uncertain significance (Apr 09, 2024)
8-66429718-C-T		not specified	Uncertain significance (Jul 08, 2022)
8-66429761-C-G			Benign (Jan 12, 2018)
8-66429783-C-G		not specified	Uncertain significance (Jul 13, 2022)
8-66429825-G-A		not specified	Uncertain significance (Jan 20, 2025)
8-66429867-C-T		not specified	Uncertain significance (Dec 01, 2022)
8-66429930-A-T			Likely benign (Mar 29, 2018)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP