FAM66A

family with sequence similarity 66 member A, the group of Long non-coding RNAs with FAM root symbol

Basic information

Region (hg38): 8:12362019-12625014

Links

ENSG00000227888 ∙ NCBI:100133172 ∙ ∙ HGNC:30444 ∙ ∙ ∙ 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 FAM66A gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FAM66A 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 FAM66A

This is a list of pathogenic ClinVar variants found in the FAM66A region.

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

Position	Type	Phenotype	Significance	ClinVar
8-12427663-C-T		not specified	Uncertain significance (Sep 26, 2023)
8-12427666-T-G		not specified	Uncertain significance (May 11, 2022)
8-12427696-G-A			Benign (Mar 01, 2024)
8-12427702-T-C		not specified	Uncertain significance (Jul 16, 2024)
8-12427711-C-T		not specified	Uncertain significance (Aug 10, 2021)
8-12427726-C-G		not specified	Uncertain significance (Nov 21, 2023)
8-12427729-G-A		not specified	Uncertain significance (May 28, 2024)
8-12427732-T-G		not specified	Likely benign (Mar 11, 2022)
8-12427740-C-T		not specified	Uncertain significance (Feb 06, 2025)
8-12427742-G-C		not specified	Uncertain significance (Oct 29, 2024)
8-12427785-G-A		not specified	Uncertain significance (May 03, 2023)
8-12427786-C-A		not specified	Uncertain significance (Jul 14, 2021)
8-12427786-C-T		not specified	Likely benign (Mar 27, 2023)
8-12428650-T-C		not specified	Uncertain significance (Mar 22, 2023)
8-12428653-G-A		not specified	Uncertain significance (Nov 14, 2023)
8-12428654-G-A		not specified	Uncertain significance (Jul 17, 2024)
8-12428654-G-T		not specified	Uncertain significance (Dec 17, 2024)
8-12428687-C-T		not specified	Uncertain significance (Nov 08, 2022)
8-12428713-A-T		not specified	Uncertain significance (Dec 31, 2024)
8-12428716-C-T		not specified	Uncertain significance (Aug 04, 2023)
8-12428724-G-T		not specified	Likely benign (Feb 28, 2023)
8-12428730-G-T		not specified	Uncertain significance (Oct 22, 2024)
8-12428740-A-G		not specified	Uncertain significance (Nov 20, 2024)
8-12428747-C-T		not specified	Uncertain significance (Nov 27, 2023)
8-12428761-C-T		not specified	Uncertain significance (Jul 30, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP