FN1-DT

FN1 divergent transcript, the group of Divergent transcripts

Basic information

Region (hg38): 2:215435614-215437707

Links

ENSG00000230695 ∙ NCBI:105373868 ∙ ∙ HGNC:55775 ∙ ∙ ∙ 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 FN1-DT gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FN1-DT 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						0
Total	0	0	0	0	0

Variants in FN1-DT

This is a list of pathogenic ClinVar variants found in the FN1-DT region.

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

Position	Type	Phenotype	Significance	ClinVar
2-215435639-C-G			Likely benign (Dec 26, 2024)
2-215435639-C-T		Glomerulopathy with fibronectin deposits 2;Spondylometaphyseal dysplasia - Sutcliffe type	Benign/Likely benign (Jan 23, 2025)
2-215435646-A-G			Likely benign (Aug 22, 2024)
2-215435652-C-T			Uncertain significance (Oct 02, 2024)
2-215435656-C-T			Uncertain significance (Oct 08, 2022)
2-215435659-G-A		Glomerulopathy with fibronectin deposits 2;Spondylometaphyseal dysplasia - Sutcliffe type	Uncertain significance (May 29, 2024)
2-215435660-C-T			Uncertain significance (Dec 18, 2021)
2-215435662-T-G		Glomerulopathy with fibronectin deposits 2;Spondylometaphyseal dysplasia - Sutcliffe type	Conflicting classifications of pathogenicity (Jan 03, 2025)
2-215435663-T-C		Inborn genetic diseases	Uncertain significance (Jan 08, 2025)
2-215435665-A-G			Likely benign (Oct 22, 2024)
2-215435667-T-C			Uncertain significance (Aug 02, 2023)
2-215435672-G-A		Glomerulopathy with fibronectin deposits 2;Spondylometaphyseal dysplasia - Sutcliffe type	Uncertain significance (Mar 22, 2024)
2-215435678-G-A			Uncertain significance (Mar 16, 2020)
2-215435682-A-C			Benign/Likely benign (Jan 28, 2025)
2-215435686-G-C		Glomerulopathy with fibronectin deposits 2;Spondylometaphyseal dysplasia - Sutcliffe type	Benign/Likely benign (May 16, 2024)
2-215435699-T-C		Glomerulopathy with fibronectin deposits 2;Spondylometaphyseal dysplasia - Sutcliffe type	Uncertain significance (May 07, 2024)
2-215435708-T-G		Inborn genetic diseases	Uncertain significance (Jan 19, 2025)
2-215435712-T-A			Uncertain significance (Oct 01, 2019)
2-215435716-G-T		Glomerulopathy with fibronectin deposits 2;Spondylometaphyseal dysplasia - Sutcliffe type	Conflicting classifications of pathogenicity (May 29, 2024)
2-215435727-C-T			Uncertain significance (Sep 30, 2023)
2-215435729-C-T			Conflicting classifications of pathogenicity (Apr 09, 2023)
2-215435731-C-T			Likely benign (Oct 05, 2023)
2-215435740-C-T			Likely benign (Jul 21, 2023)
2-215435742-C-T		Glomerulopathy with fibronectin deposits 2;Spondylometaphyseal dysplasia - Sutcliffe type	Uncertain significance (Jun 19, 2024)
2-215435744-G-T		Glomerulopathy with fibronectin deposits 2;Spondylometaphyseal dysplasia - Sutcliffe type	Uncertain significance (Jul 01, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP