CBARP-DT

CBARP divergent transcript, the group of Divergent transcripts

Basic information

Region (hg38): 19:1229108-1239529

Links

ENSG00000267778 ∙ ∙ ∙ HGNC:55285 ∙ ∙ ∙ 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 CBARP-DT gene.

Variants pathogenicity by type

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

This is a list of pathogenic ClinVar variants found in the CBARP-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
19-1229692-G-T			Likely benign (Mar 01, 2022)
19-1230975-C-A		not specified	Uncertain significance (Jun 29, 2023)
19-1230987-G-C		not specified	Uncertain significance (Apr 19, 2023)
19-1231014-G-A		not specified	Uncertain significance (Sep 10, 2024)
19-1231056-G-A		not specified	Uncertain significance (May 15, 2024)
19-1231192-C-G		not specified	Uncertain significance (Nov 13, 2023)
19-1231261-G-A		not specified	Uncertain significance (Nov 14, 2024)
19-1233564-C-T		not specified	Uncertain significance (Sep 30, 2021)
19-1233570-C-T		not specified	Uncertain significance (Mar 15, 2024)
19-1233576-C-T		not specified	Uncertain significance (Dec 10, 2024)
19-1234248-G-C		not specified	Uncertain significance (Sep 11, 2024)
19-1234290-G-T		not specified	Uncertain significance (Oct 20, 2024)
19-1234583-C-T		not specified	Likely benign (Feb 19, 2025)
19-1234607-C-T			Likely benign (Feb 01, 2023)
19-1235025-C-T		not specified	Uncertain significance (Jul 06, 2021)
19-1235031-T-C		not specified	Uncertain significance (May 13, 2024)
19-1235034-T-C		not specified	Uncertain significance (Feb 17, 2024)
19-1235806-C-T		not specified	Uncertain significance (Feb 28, 2024)
19-1235897-C-T		not specified	Uncertain significance (Jun 16, 2023)
19-1236021-C-T		not specified	Uncertain significance (Mar 21, 2024)
19-1236045-G-A		not specified	Uncertain significance (Jan 09, 2025)
19-1236085-T-A		not specified	Uncertain significance (Dec 18, 2023)
19-1236085-T-C		not specified	Likely benign (Jul 05, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP