MIA-RAB4B

MIA-RAB4B readthrough (NMD candidate)

Basic information

Region (hg38): 19:40771647-40796943

Links

ENSG00000268975 ∙ NCBI:100529262 ∙ ∙ HGNC:48352 ∙ ∙ ∙ 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 MIA-RAB4B gene.

• Inborn genetic diseases (17 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MIA-RAB4B 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			16	1		17
Total	0	0	16	1	0

Variants in MIA-RAB4B

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

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

Position	Type	Phenotype	Significance	ClinVar
19-40775513-CCTTGCTCACTCT-C		MIA-related disorder	Likely benign (Aug 29, 2019)
19-40775549-C-T		not specified	Likely benign (Nov 09, 2021)
19-40775577-T-C		not specified	Uncertain significance (Sep 29, 2022)
19-40775652-C-T		MIA-related disorder	Benign (Oct 14, 2019)
19-40775832-G-C		not specified	Uncertain significance (Oct 27, 2023)
19-40775839-T-C		not specified	Uncertain significance (Dec 13, 2022)
19-40775859-C-T		not specified	Uncertain significance (Jan 18, 2023)
19-40775878-G-C		not specified	Uncertain significance (Jun 02, 2023)
19-40776985-A-G		not specified	Uncertain significance (Dec 05, 2022)
19-40777403-G-T		not specified	Uncertain significance (Oct 04, 2022)
19-40777424-C-T		MIA-related disorder	Likely benign (Jul 09, 2020)
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)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• ghis: 0.421