RPAP3-DT

RPAP3 divergent transcript, the group of Divergent transcripts

Basic information

Region (hg38): 12:47705783-47742294

Links

ENSG00000257433 ∙ NCBI:105369748 ∙ ∙ HGNC:55477 ∙ ∙ ∙ 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 RPAP3-DT gene.

• Inborn genetic diseases (25 variants)
• not provided (6 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RPAP3-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	3	6	31
Total	0	0	22	3	6

Variants in RPAP3-DT

This is a list of pathogenic ClinVar variants found in the RPAP3-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
12-47710825-C-G		not specified	Uncertain significance (Sep 16, 2021)
12-47710882-G-A		not specified	Uncertain significance (Nov 17, 2022)
12-47711688-G-T		not specified	Uncertain significance (Aug 02, 2022)
12-47711760-C-T		not specified	Uncertain significance (May 27, 2022)
12-47712537-G-A			Benign (Apr 16, 2018)
12-47712547-A-G		not specified	Uncertain significance (Feb 16, 2023)
12-47712547-A-T		not specified	Uncertain significance (Aug 13, 2021)
12-47713289-T-G		not specified	Uncertain significance (Nov 17, 2022)
12-47713301-G-A		not specified	Uncertain significance (Jul 09, 2021)
12-47713338-A-G		not specified	Uncertain significance (Aug 12, 2021)
12-47716336-C-G		not specified	Uncertain significance (Nov 16, 2021)
12-47716359-A-G		not specified	Uncertain significance (Jun 11, 2024)
12-47716367-G-A			Benign (Jul 16, 2018)
12-47716419-C-T			Benign (Feb 26, 2018)
12-47716903-G-A		not specified	Uncertain significance (Sep 28, 2023)
12-47716918-T-C		not specified	Likely benign (Jun 11, 2021)
12-47717623-G-A		not specified	Uncertain significance (May 15, 2023)
12-47717632-A-G		not specified	Uncertain significance (Dec 07, 2021)
12-47718131-C-A		not specified	Uncertain significance (Oct 02, 2023)
12-47718165-G-C		not specified	Likely benign (May 23, 2023)
12-47720800-C-T		not specified	Uncertain significance (Oct 12, 2021)
12-47720804-G-A		not specified	Uncertain significance (Apr 08, 2022)
12-47720813-A-G		not specified	Uncertain significance (Sep 01, 2021)
12-47737573-C-G		not specified	Uncertain significance (Jun 27, 2022)
12-47737684-G-A			Benign (Aug 13, 2018)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP