INAFM1

InaF motif containing 1

Basic information

Region (hg38): 19:47274885-47275723

Previous symbols: [ "PRR24" ]

Links

ENSG00000257704 ∙ NCBI:255783 ∙ ∙ HGNC:27406 ∙ Uniprot:C9JVW0 ∙ 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 INAFM1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the INAFM1 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			20	2		22
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	20	2	0

Variants in INAFM1

This is a list of pathogenic ClinVar variants found in the INAFM1 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-47274924-G-C		not specified	Uncertain significance (Jan 16, 2025)
19-47274927-G-A		not specified	Uncertain significance (May 31, 2023)
19-47274933-G-C		not specified	Uncertain significance (Feb 15, 2023)
19-47275013-C-G		not specified	Uncertain significance (Dec 09, 2023)
19-47275026-A-G		not specified	Uncertain significance (Jan 23, 2025)
19-47275052-G-A		not specified	Uncertain significance (Dec 21, 2023)
19-47275058-C-G		not specified	Uncertain significance (Aug 14, 2023)
19-47275064-G-A		not specified	Uncertain significance (Aug 30, 2021)
19-47275068-A-G		not specified	Uncertain significance (Mar 01, 2025)
19-47275076-C-T		not specified	Uncertain significance (Oct 18, 2021)
19-47275104-C-T		not specified	Uncertain significance (Oct 08, 2024)
19-47275134-C-G		not specified	Uncertain significance (Dec 29, 2024)
19-47275137-C-T		not specified	Uncertain significance (Oct 12, 2021)
19-47275149-C-G		not specified	Uncertain significance (Dec 01, 2022)
19-47275158-C-G		not specified	Uncertain significance (Aug 02, 2021)
19-47275163-G-T		not specified	Uncertain significance (Dec 20, 2024)
19-47275167-C-T		not specified	Uncertain significance (Dec 30, 2024)
19-47275170-C-G		not specified	Uncertain significance (Feb 15, 2023)
19-47275179-C-T		not specified	Uncertain significance (Sep 01, 2021)
19-47275196-C-G		not specified	Likely benign (Apr 15, 2024)
19-47275209-T-C		not specified	Uncertain significance (Dec 19, 2023)
19-47275269-A-G		not specified	Uncertain significance (Feb 28, 2023)
19-47275275-A-G		not specified	Uncertain significance (Oct 03, 2022)
19-47275283-C-T		not specified	Uncertain significance (Mar 07, 2024)
19-47275286-C-G		not specified	Uncertain significance (Feb 28, 2025)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
INAFM1	protein_coding	protein_coding	ENST00000552360	1	838

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.309	0.500	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.15	60	39.6	1.52	0.00000196	815
Missense in Polyphen		1	0.95846	1.0433		45
Synonymous	-3.38	38	19.2	1.98	9.50e-7	334
Loss of Function	0.475	0	0.263	0.00	1.15e-8	8

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• ghis: 0.513

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Inafm1

Gene ontology

• Cellular component: integral component of membrane
• Molecular function: calcium channel regulator activity