MRPS30-DT

MRPS30 divergent transcript, the group of Divergent transcripts

Basic information

Region (hg38): 5:44495094-44809850

Links

ENSG00000251141 ∙ NCBI:100506674 ∙ ∙ HGNC:53420 ∙ ∙ ∙ 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 MRPS30-DT gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MRPS30-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 MRPS30-DT

This is a list of pathogenic ClinVar variants found in the MRPS30-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
5-44808969-G-C		not specified	Uncertain significance (Aug 21, 2023)
5-44808970-C-T		not specified	Uncertain significance (Sep 17, 2021)
5-44808976-G-A		not specified	Uncertain significance (Aug 09, 2021)
5-44809117-C-T		not specified	Uncertain significance (Jan 11, 2023)
5-44809152-G-A		not specified	Uncertain significance (May 18, 2023)
5-44809200-C-A		not specified	Uncertain significance (Aug 26, 2022)
5-44809224-T-G		not specified	Uncertain significance (Mar 18, 2024)
5-44809266-G-A		not specified	Uncertain significance (Jun 22, 2024)
5-44809273-G-A		not specified	Uncertain significance (May 26, 2023)
5-44809296-A-G		not specified	Uncertain significance (Dec 14, 2023)
5-44809331-G-GGAGCCC			Likely benign (Feb 01, 2024)
5-44809338-G-A		not specified	Uncertain significance (Aug 16, 2021)
5-44809446-C-G		not specified	Uncertain significance (Dec 03, 2021)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP