RANBP3-DT

RANBP3 divergent transcript, the group of Divergent transcripts

Basic information

Region (hg38): 19:5978176-6020363

Links

ENSG00000266983 ∙ NCBI:100128568 ∙ ∙ HGNC:55312 ∙ ∙ ∙ 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 RANBP3-DT gene.

• Inborn genetic diseases (23 variants)
• Tooth agenesis (1 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RANBP3-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			22	2		24
Total	0	0	22	2	0

Variants in RANBP3-DT

This is a list of pathogenic ClinVar variants found in the RANBP3-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
19-5994855-G-A		not specified	Uncertain significance (Feb 16, 2023)
19-5994869-C-T		not specified	Uncertain significance (Feb 08, 2023)
19-5994902-C-T		not specified	Likely benign (May 26, 2022)
19-5994917-G-A		not specified	Uncertain significance (Mar 29, 2022)
19-5994929-C-T		not specified	Uncertain significance (May 27, 2022)
19-5994936-C-T		not specified	Uncertain significance (Mar 20, 2023)
19-5995603-T-G		not specified	Uncertain significance (Apr 24, 2024)
19-5995607-C-T		not specified	Uncertain significance (Oct 12, 2021)
19-5995631-C-T		not specified	Uncertain significance (Apr 04, 2024)
19-5997105-G-A			Likely benign (Nov 01, 2022)
19-6001866-G-A		not specified	Uncertain significance (Jun 16, 2024)
19-6001896-G-A		not specified	Uncertain significance (Nov 15, 2021)
19-6001905-C-A		not specified	Uncertain significance (May 31, 2023)
19-6001920-G-A		not specified	Uncertain significance (Jan 16, 2024)
19-6001977-C-T		not specified	Uncertain significance (Jan 24, 2023)
19-6002753-C-T		not specified	Uncertain significance (Jan 29, 2024)
19-6002797-C-T		not specified	Uncertain significance (Aug 14, 2023)
19-6002836-C-G		not specified	Uncertain significance (Apr 12, 2022)
19-6002861-C-T		not specified	Uncertain significance (Apr 06, 2024)
19-6004280-A-G		Tooth agenesis • not specified	Uncertain significance (Aug 12, 2021)
19-6004295-G-A		not specified	Uncertain significance (Nov 01, 2021)
19-6007020-G-A		not specified	Uncertain significance (Aug 03, 2022)
19-6007106-G-C		not specified	Uncertain significance (Jun 06, 2023)
19-6007153-C-T		not specified	Uncertain significance (Apr 23, 2024)
19-6007712-C-T		not specified	Uncertain significance (Jul 19, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP