FLJ40194

Basic information

Region (hg38): 17:49224669-49318011

Links

ENSG00000177369 ∙ ∙ ∙ ∙ ∙ ∙ ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the FLJ40194 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FLJ40194 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 FLJ40194

This is a list of pathogenic ClinVar variants found in the FLJ40194 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-49224683-C-T		not specified	Uncertain significance (Feb 13, 2024)
17-49224739-T-G		not specified	Uncertain significance (Mar 01, 2023)
17-49224932-C-G		not specified	Uncertain significance (May 05, 2023)
17-49224964-A-G		not specified	Uncertain significance (Sep 14, 2022)
17-49224973-C-G		not specified	Uncertain significance (Jan 19, 2024)
17-49225001-C-G		not specified	Uncertain significance (Mar 15, 2024)
17-49225001-C-T		not specified	Uncertain significance (Oct 17, 2023)
17-49225004-C-T		not specified	Uncertain significance (May 22, 2024)
17-49225022-A-G		not specified	Uncertain significance (Apr 12, 2022)
17-49225115-G-C		not specified	Uncertain significance (Jun 17, 2024)
17-49225117-T-C		not specified	Uncertain significance (Nov 21, 2023)
17-49298522-G-A		not specified	Uncertain significance (Dec 19, 2022)
17-49298531-G-A		not specified	Uncertain significance (May 02, 2024)
17-49298661-T-C		not specified	Uncertain significance (May 08, 2024)
17-49298715-G-A		not specified	Uncertain significance (Sep 17, 2021)
17-49298754-C-A		not specified	Uncertain significance (May 11, 2022)
17-49298828-T-C		not specified	Uncertain significance (May 15, 2024)
17-49311320-G-A		not specified	Uncertain significance (May 30, 2024)
17-49312700-A-C		not specified	Uncertain significance (Dec 20, 2022)
17-49312701-C-T		not specified	Uncertain significance (Sep 21, 2021)
17-49312785-C-T		not specified	Uncertain significance (Apr 11, 2023)
17-49316833-T-C		not specified	Uncertain significance (Sep 20, 2023)
17-49316843-A-G			Uncertain significance (Nov 01, 2022)
17-49316956-C-T		not specified	Uncertain significance (Jan 17, 2023)
17-49316957-G-C		not specified	Uncertain significance (Apr 01, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP