MRPS35-DT

MRPS35 divergent transcript, the group of Divergent transcripts

Basic information

Region (hg38): 12:27690982-27710803

Links

ENSG00000256377 ∙ NCBI:107984461 ∙ ∙ HGNC:55490 ∙ ∙ ∙ 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 MRPS35-DT gene.

• Inborn genetic diseases (8 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MRPS35-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			8			8
Total	0	0	8	0	0

Variants in MRPS35-DT

This is a list of pathogenic ClinVar variants found in the MRPS35-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
12-27691811-A-T		Inborn genetic diseases	Uncertain significance (Jan 30, 2024)
12-27691830-G-C		PPFIBP1-related disorder	Likely benign (Jun 05, 2023)
12-27691842-G-A		Inborn genetic diseases	Uncertain significance (Apr 07, 2022)
12-27691852-G-A		Inborn genetic diseases	Uncertain significance (Jul 25, 2023)
12-27692649-A-G		Inborn genetic diseases	Uncertain significance (Sep 14, 2021)
12-27692813-T-A		Inborn genetic diseases	Uncertain significance (Oct 16, 2023)
12-27692818-T-C		Inborn genetic diseases	Uncertain significance (Apr 22, 2022)
12-27696645-T-C		not specified	Uncertain significance (Apr 23, 2024)
12-27696730-T-A		not specified	Uncertain significance (Apr 28, 2023)
12-27696751-C-A		not specified	Uncertain significance (Dec 21, 2022)
12-27696823-C-G		not specified	Likely benign (Oct 10, 2023)
12-27696866-A-C		not specified	Uncertain significance (Dec 22, 2023)
12-27696924-T-C		not specified	Uncertain significance (Jan 26, 2022)
12-27697044-G-A		not specified	Uncertain significance (Oct 27, 2021)
12-27697067-C-T		not specified	Uncertain significance (Mar 30, 2024)
12-27697068-C-T		not specified	Uncertain significance (Feb 09, 2023)
12-27697101-T-G		not specified	Uncertain significance (Jul 29, 2023)
12-27697112-A-G		not specified	Uncertain significance (Jul 07, 2022)
12-27697185-G-C		not specified	Uncertain significance (Mar 16, 2024)
12-27697186-T-G		not specified	Uncertain significance (Dec 11, 2023)
12-27697223-A-G		not specified	Uncertain significance (Jun 18, 2021)
12-27697232-G-A		not specified	Uncertain significance (Jun 24, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP