RAB4B-EGLN2

RAB4B-EGLN2 readthrough (NMD candidate)

Basic information

Region (hg38): 19:40778241-40808418

Links

ENSG00000171570 ∙ NCBI:100529264 ∙ ∙ HGNC:44465 ∙ ∙ ∙ 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 RAB4B-EGLN2 gene.

• Inborn genetic diseases (503 variants)
• not provided (20 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RAB4B-EGLN2 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)			4	2		6
splice region						0
non coding			249	249	17	515
Total	0	0	253	251	17

Variants in RAB4B-EGLN2

This is a list of pathogenic ClinVar variants found in the RAB4B-EGLN2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
19-40780072-C-G		not specified	Uncertain significance (Apr 07, 2023)
19-40783788-C-T		not specified	Uncertain significance (Feb 03, 2022)
19-40783792-G-A		not specified	Uncertain significance (Jan 23, 2024)
19-40783827-T-C		not specified	Uncertain significance (Apr 17, 2023)
19-40783830-G-A		not specified	Uncertain significance (Mar 30, 2022)
19-40783965-G-A		not specified	Uncertain significance (May 18, 2023)
19-40784036-G-A		not specified	Uncertain significance (Dec 27, 2022)
19-40784050-G-C		not specified	Uncertain significance (Jan 26, 2023)
19-40786733-C-T		not specified	Uncertain significance (Dec 28, 2023)
19-40786892-G-C		not specified	Uncertain significance (Mar 20, 2023)
19-40786904-C-T		not specified	Uncertain significance (Jan 17, 2024)
19-40786905-G-A		not specified	Uncertain significance (Jan 23, 2023)
19-40786937-G-A		not specified	Uncertain significance (Nov 07, 2023)
19-40786948-G-T		not specified	Uncertain significance (Nov 09, 2021)
19-40786950-C-T		not specified	Uncertain significance (Jun 27, 2022)
19-40799342-T-TG			Benign (Oct 03, 2018)
19-40799346-G-A			Benign (Jun 23, 2018)
19-40799402-G-T			Benign (Jun 23, 2018)
19-40799835-A-G			Benign (Jun 22, 2018)
19-40799888-CTCTG-C			Benign (Jun 23, 2018)
19-40799920-ACT-A			Benign (Jun 23, 2018)
19-40800164-C-T			Benign (Jun 23, 2018)
19-40800316-CT-C			Benign (Aug 30, 2019)
19-40800329-C-T			Benign (Jun 22, 2018)
19-40800457-G-A			Benign (Jun 22, 2018)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• pHI: 0.427
• ghis: 0.583