C17orf50

chromosome 17 open reading frame 50

Basic information

Region (hg38): 17:35760887-35765079

Links

ENSG00000270806 ∙ NCBI:146853 ∙ ∙ HGNC:29581 ∙ Uniprot:Q8WW18 ∙ AlphaFold ∙ 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 C17orf50 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the C17orf50 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			7			7
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	7	0	0

Variants in C17orf50

This is a list of pathogenic ClinVar variants found in the C17orf50 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-35764069-G-A		not specified	Uncertain significance (Aug 28, 2021)
17-35764178-G-A		not specified	Uncertain significance (Mar 15, 2024)
17-35764218-G-C		not specified	Uncertain significance (Aug 02, 2021)
17-35764307-T-C		not specified	Uncertain significance (Jun 11, 2021)
17-35764449-C-T		not specified	Uncertain significance (Oct 05, 2021)
17-35764479-C-T		not specified	Uncertain significance (Sep 01, 2021)
17-35764604-G-C		not specified	Uncertain significance (Aug 10, 2021)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• pHI: 0.187
• hipred: N
• hipred_score: 0.180

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: 1700020L24Rik