FAM111A-DT

FAM111A divergent transcript, the group of Divergent transcripts

Basic information

Region (hg38): 11:59130133-59173063

Links

ENSG00000245571 ∙ NCBI:101927204 ∙ ∙ HGNC:53752 ∙ ∙ ∙ 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 FAM111A-DT gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FAM111A-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 FAM111A-DT

This is a list of pathogenic ClinVar variants found in the FAM111A-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
11-59148565-A-G			Benign (Nov 11, 2018)
11-59148707-C-T			Likely benign (Sep 08, 2020)
11-59148880-G-C			Uncertain significance (Oct 04, 2023)
11-59148887-G-A			Likely benign (Mar 13, 2022)
11-59148897-C-T			Likely benign (Nov 21, 2024)
11-59148899-G-A			Likely benign (Apr 24, 2022)
11-59148902-G-A			Likely benign (Dec 24, 2024)
11-59148935-C-A			Uncertain significance (Jul 23, 2023)
11-59148935-C-T		FAM111A-related disorder	Likely benign (Jan 12, 2025)
11-59148936-G-A			Uncertain significance (Feb 02, 2025)
11-59148952-C-T		Inborn genetic diseases	Conflicting classifications of pathogenicity (Oct 30, 2024)
11-59148953-G-A			Uncertain significance (Jul 13, 2024)
11-59149021-A-G			Benign (Nov 26, 2019)
11-59149122-A-G			Benign (Nov 26, 2019)
11-59149222-G-A			Likely benign (Nov 02, 2020)
11-59149245-AT-A			Benign (Jan 28, 2020)
11-59151621-A-T			Benign (Nov 26, 2019)
11-59151738-AT-A			Likely benign (Oct 29, 2023)
11-59151749-G-C			Uncertain significance (Nov 19, 2021)
11-59151775-G-A			Benign (Jan 18, 2025)
11-59151793-G-T			Likely benign (Apr 16, 2024)
11-59151794-G-A			Likely benign (May 16, 2018)
11-59151801-T-A		Inborn genetic diseases	Uncertain significance (Oct 13, 2023)
11-59151801-T-C			Uncertain significance (May 20, 2023)
11-59151808-G-A			Uncertain significance (Feb 24, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP