RPS20P21

ribosomal protein S20 pseudogene 21

Basic information

Region (hg38): 8:73982125-73982467

Links

ENSG00000244295 ∙ NCBI:100271234 ∙ ∙ HGNC:35993 ∙ ∙ ∙ 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 RPS20P21 gene.

• Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 (12 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RPS20P21 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			7	1	4	12
Total	0	0	7	1	4

Variants in RPS20P21

This is a list of pathogenic ClinVar variants found in the RPS20P21 region.

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

Position	Type	Phenotype	Significance	ClinVar
8-73982152-C-T		Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Uncertain significance (Mar 30, 2018)
8-73982192-C-T		Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Likely benign (Jan 13, 2018)
8-73982232-T-G		Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Benign (Jan 13, 2018)
8-73982278-C-A		Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Uncertain significance (Jan 13, 2018)
8-73982291-T-C		Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Uncertain significance (Jan 12, 2018)
8-73982314-C-T		Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Uncertain significance (Jan 13, 2018)
8-73982327-C-T		Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Uncertain significance (Jan 13, 2018)
8-73982335-G-A		Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Benign (Jan 12, 2018)
8-73982352-C-T		Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Uncertain significance (Jan 13, 2018)
8-73982376-C-T		Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Uncertain significance (Mar 30, 2018)
8-73982392-G-A		Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Benign (Jan 12, 2018)
8-73982406-G-A		Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Benign (Jan 12, 2018)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP