SOD2-OT1

SOD2 overlapping transcript 1, the group of Overlapping transcripts

Basic information

Links

ENSG00000285427 ∙ NCBI:100129518 ∙ ∙ HGNC:53445 ∙ ∙ ∙ 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 SOD2-OT1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SOD2-OT1 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

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Pathway: Detoxification of Reactive Oxygen Species;cardiac protection against ros;erythropoietin mediated neuroprotection through nf-kb;Cellular responses to stress;Cellular responses to external stimuli;the igf-1 receptor and longevity;Transcriptional activation of mitochondrial biogenesis;Mitochondrial biogenesis;reactive oxygen species degradation;FoxO family signaling;Organelle biogenesis and maintenance (Consensus)