FTLP14

ferritin light chain pseudogene 14

Basic information

Region (hg38): 16:68822587-68823070

Links

ENSG00000260459

∙ NCBI:100462794 ∙ ∙ HGNC:37964 ∙ ∙ ∙ 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 FTLP14 gene.

Hereditary cancer-predisposing syndrome (2 variants)
CDH1-related diffuse gastric and lobular breast cancer syndrome (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FTLP14 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			1 clinvar		1 clinvar	2
Total	0	0	1	0	1

Variants in FTLP14

This is a list of pathogenic ClinVar variants found in the FTLP14 region.

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

Position	Type	Phenotype	Significance	ClinVar
16-68822976-G-A		Hereditary cancer-predisposing syndrome • CDH1-related diffuse gastric and lobular breast cancer syndrome	Benign (Aug 08, 2023)	223658
16-68823016-A-G		Hereditary cancer-predisposing syndrome	Uncertain significance (Sep 15, 2020)	224564

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP