MISFA

mitochondrial sheath formation associated

Basic information

Region (hg38): 11:18588781-18610255

Previous symbols: [ "SPTY2D1-AS1", "SPTY2D1OS" ]

Links

ENSG00000247595 ∙ NCBI:100506540 ∙ ∙ HGNC:44122 ∙ Uniprot:A0A0U1RRN3 ∙ 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 MISFA gene.

• Inborn genetic diseases (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MISFA 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			3			3
Total	0	0	3	0	0

Variants in MISFA

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

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

Position	Type	Phenotype	Significance	ClinVar
11-18609865-C-T		not specified	Uncertain significance (Nov 17, 2022)
11-18609866-G-A		not specified	Uncertain significance (Nov 08, 2022)
11-18609880-T-C		not specified	Uncertain significance (Aug 09, 2021)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Gene ontology

• Cellular component: integral component of membrane