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.

• Retinoblastoma (3 variants)
• not provided (2 variants)
• Hereditary cancer-predisposing syndrome (1 variants)
• RB1-related condition (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	2	2			5
Total	1	2	2	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 (May 20, 2024)
13-48303679-C-G		Retinoblastoma • RB1-related disorder	Uncertain significance (Dec 06, 2023)
13-48303683-CC-AA		Retinoblastoma	Uncertain significance (Jan 24, 2024)
13-48303685-C-G		Retinoblastoma	Uncertain significance (Nov 18, 2023)
13-48303689-AGCCTCGCGGACGTGACGCCGCGG-A		RB1-related disorder • Retinoblastoma	Uncertain significance (Sep 26, 2024)
13-48303690-G-C		Retinoblastoma	Uncertain significance (Dec 06, 2023)
13-48303691-C-A		Retinoblastoma	Uncertain significance (Nov 30, 2023)
13-48303695-G-A		RB1-related disorder	Likely benign (Jul 30, 2024)
13-48303700-CGTGACGCCGCGGGCGGAA-C		Retinoblastoma	Likely pathogenic (May 20, 2024)
13-48303704-A-G			Uncertain significance (Dec 24, 2019)
13-48303711-G-A		Retinoblastoma • Hereditary cancer-predisposing syndrome	Uncertain significance (Apr 15, 2024)
13-48303712-G-T		Retinoblastoma	Uncertain significance (Jan 14, 2024)
13-48303712-GGCGGAAGT-G		Retinoblastoma	Likely pathogenic (Aug 31, 2021)
13-48303714-C-T		Retinoblastoma	Uncertain significance (Dec 01, 2023)
13-48303715-G-A		Retinoblastoma • Hereditary cancer-predisposing syndrome	Pathogenic (May 20, 2024)
13-48303715-GGAAGTGACG-AA		Retinoblastoma	Likely pathogenic (May 20, 2024)
13-48303716-G-A		Retinoblastoma	Likely pathogenic (May 20, 2024)
13-48303716-G-C		Retinoblastoma	Likely pathogenic (May 20, 2024)
13-48303716-G-T		Retinoblastoma	Likely pathogenic (May 20, 2024)
13-48303724-G-T		Retinoblastoma	Likely pathogenic (May 20, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP