SMIM27

small integral membrane protein 27

Basic information

Region (hg38): 9:32551144-32568621

Previous symbols: [ "C9orf133", "TOPORS-AS1" ]

Links

ENSG00000235453 ∙ NCBI:100129250 ∙ ∙ HGNC:31420 ∙ Uniprot:A0A1B0GUW7 ∙ 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 SMIM27 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SMIM27 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					1	1
nonsense						0
start loss			2			2
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			6	4		10
Total	0	0	8	4	1

Variants in SMIM27

This is a list of pathogenic ClinVar variants found in the SMIM27 region.

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

Position	Type	Phenotype	Significance	ClinVar
9-32551161-C-A			Benign (Apr 01, 2022)
9-32552417-T-A			Likely benign (Oct 26, 2023)
9-32552424-G-A			Likely benign (Oct 17, 2022)
9-32552426-C-T			Likely benign (Jul 26, 2022)
9-32552431-T-C		Retinitis pigmentosa	Uncertain significance (Apr 27, 2017)
9-32552432-A-G			Uncertain significance (Nov 28, 2023)
9-32552433-C-T			Uncertain significance (Jul 12, 2023)
9-32552435-A-G			Uncertain significance (Oct 14, 2023)
9-32552436-T-C			Uncertain significance (Nov 03, 2022)
9-32552464-C-G		Retinitis pigmentosa	Benign (Jan 12, 2018)
9-32552497-C-T		Retinitis pigmentosa	Likely benign (Jan 13, 2018)
9-32552500-G-A		Retinitis pigmentosa	Uncertain significance (Jan 12, 2018)
9-32552608-C-T		Retinitis Pigmentosa, Dominant	Uncertain significance (Jun 14, 2016)
9-32552627-A-G		Retinitis Pigmentosa, Dominant	Uncertain significance (Jun 14, 2016)
9-32553911-G-C		not specified	Uncertain significance (Oct 25, 2023)
9-32558912-G-A		not specified	Uncertain significance (Nov 17, 2022)
9-32558920-C-A		not specified	Uncertain significance (Dec 06, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Gene ontology

• Cellular component: integral component of membrane