RB1-DT

RB1 divergent transcript, the group of Divergent transcripts

Basic information

Region (hg38): 13:48291549-48303723

Previous symbols: [ "LINC00441" ]

Links

ENSG00000231473 ∙ NCBI:100862704 ∙ ∙ HGNC:42778 ∙ ∙ ∙ 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 RB1-DT gene.

• Hereditary cancer-predisposing syndrome (1 variants)
• Retinoblastoma (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RB1-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	1	6	12			19
Total	1	6	12	0	0

Variants in RB1-DT

This is a list of pathogenic ClinVar variants found in the RB1-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
13-48303678-G-A		Retinoblastoma • RB1-related disorder	Uncertain significance (Jan 28, 2025)
13-48303678-GC-TT		Retinoblastoma	Uncertain significance (Jun 18, 2024)
13-48303679-C-G		Retinoblastoma • RB1-related disorder	Uncertain significance (Jan 29, 2025)
13-48303679-C-T		Retinoblastoma	Uncertain significance (Apr 01, 2024)
13-48303680-G-A		Retinoblastoma	Uncertain significance (Sep 23, 2024)
13-48303681-G-A		Retinoblastoma	Uncertain significance (Apr 10, 2024)
13-48303681-G-C		Retinoblastoma	Uncertain significance (Jul 26, 2024)
13-48303682-G-A		Retinoblastoma	Uncertain significance (Feb 06, 2024)
13-48303682-GC-G		Retinoblastoma	Uncertain significance (Aug 03, 2024)
13-48303683-C-T		Retinoblastoma	Uncertain significance (Aug 31, 2024)
13-48303683-CC-AA		Retinoblastoma	Uncertain significance (Nov 06, 2024)
13-48303685-C-G		Retinoblastoma	Uncertain significance (Nov 18, 2023)
13-48303686-G-A		Retinoblastoma	Uncertain significance (Aug 27, 2024)
13-48303686-G-T		Retinoblastoma	Uncertain significance (Nov 15, 2024)
13-48303688-G-C		Retinoblastoma	Uncertain significance (Apr 12, 2024)
13-48303689-AGCCTCGCGGACGTGACGCCGCGG-A		Retinoblastoma • RB1-related disorder	Uncertain significance (Jan 28, 2025)
13-48303690-G-A		Retinoblastoma	Uncertain significance (Sep 08, 2024)
13-48303690-G-C		Retinoblastoma	Uncertain significance (Nov 21, 2024)
13-48303691-C-A		Retinoblastoma	Uncertain significance (Nov 30, 2023)
13-48303694-C-A		Retinoblastoma	Uncertain significance (Aug 19, 2024)
13-48303695-G-A		RB1-related disorder • Retinoblastoma	Uncertain significance (Feb 02, 2025)
13-48303700-C-T		Retinoblastoma	Uncertain significance (May 08, 2024)
13-48303700-CGTGACGCCGCGGGCGGAA-C		Retinoblastoma	Pathogenic/Likely pathogenic (May 20, 2024)
13-48303701-G-A		Retinoblastoma	Uncertain significance (Oct 27, 2024)
13-48303702-T-C		Retinoblastoma	Uncertain significance (Aug 05, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP