SMIM47

small integral membrane protein 47

Basic information

Region (hg38): 19:50776141-50793142

Links

ENSG00000261341 ∙ NCBI:105372440 ∙ ∙ HGNC:53452 ∙ Uniprot:D0EPY3 ∙ 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 SMIM47 gene.

• Amelogenesis imperfecta, type 1J (7 variants)
• not provided (6 variants)
• Inborn genetic diseases (6 variants)
• Amelogenesis imperfecta (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SMIM47 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	4	3	11		3	21
Total	4	3	11	0	3

Highest pathogenic variant AF is 0.000125

Variants in SMIM47

This is a list of pathogenic ClinVar variants found in the SMIM47 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-50790421-G-A		not specified	Uncertain significance (Jan 27, 2022)
19-50790456-CCTG-C		ACP4-related disorder	Benign (Aug 15, 2019)
19-50790487-C-T		not specified	Uncertain significance (Apr 26, 2023)
19-50790517-G-A		not specified	Uncertain significance (Mar 23, 2023)
19-50790601-G-A		not specified	Uncertain significance (Dec 14, 2021)
19-50790612-C-T		not specified	Uncertain significance (Sep 22, 2023)
19-50790620-G-A		ACP4-related disorder	Likely benign (Feb 25, 2019)
19-50790697-C-T		not specified	Uncertain significance (Dec 06, 2022)
19-50790698-G-A		ACP4-related disorder	Benign (Jan 20, 2020)
19-50790783-C-T		Amelogenesis imperfecta, type 1J	Pathogenic (Aug 15, 2019)
19-50790784-G-A		not specified	Uncertain significance (May 30, 2023)
19-50790784-GCCAGCAGCTGGAGCTGG-A			Likely pathogenic (Dec 20, 2022)
19-50790819-C-A		Amelogenesis imperfecta	Uncertain significance (Feb 03, 2021)
19-50790849-C-T		not specified	Uncertain significance (Oct 05, 2023)
19-50790850-G-A		not specified	Uncertain significance (Jan 26, 2023)
19-50791666-G-A		not specified	Uncertain significance (Nov 17, 2022)
19-50791683-C-T		Amelogenesis imperfecta, type 1J	Likely pathogenic (Dec 20, 2022)
19-50791702-A-G		Amelogenesis imperfecta • not specified	Uncertain significance (Jan 04, 2022)
19-50791715-C-T		ACP4-related disorder	Likely benign (Feb 21, 2019)
19-50791727-C-T			Benign (Dec 31, 2019)
19-50791734-G-C		Amelogenesis imperfecta, type 1J	Pathogenic (Aug 15, 2019)
19-50791749-G-A		Amelogenesis imperfecta, type 1J	Pathogenic (Aug 15, 2019)
19-50791762-G-C		not specified	Uncertain significance (Jan 24, 2024)
19-50791771-C-T		Amelogenesis imperfecta	Uncertain significance (Feb 03, 2021)
19-50791776-C-T		not specified	Uncertain significance (Jan 31, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP