SOD2

superoxide dismutase 2, the group of Superoxide dismutases

Basic information

Region (hg38): 6:159669069-159762529

Links

ENSG00000291237

∙ NCBI:6648 ∙ OMIM:147460 ∙ HGNC:11180 ∙ Uniprot:P04179 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

cardiomyopathy (Limited), mode of inheritance: AR

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the SOD2 gene.

not_specified (27 variants)
not_provided (3 variants)
Microvascular_complications_of_diabetes,_susceptibility_to,_6 (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SOD2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000000636.4. Only rare variants are included in the table.

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.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous				1 clinvar	1 clinvar	2
missense			27 clinvar	1 clinvar		28
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	27	2	1

Loading clinvar variants...

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP