ACTL10

actin like 10, the group of Actin related proteins

Basic information

Region (hg38): 20:33666943-33668525

Previous symbols: [ "C20orf134" ]

Links

ENSG00000288649 ∙ NCBI:170487 ∙ ∙ HGNC:16127 ∙ Uniprot:Q5JWF8 ∙ AlphaFold ∙ 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 ACTL10 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ACTL10 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			13	2		15
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	13	2	0

Variants in ACTL10

This is a list of pathogenic ClinVar variants found in the ACTL10 region.

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

Position	Type	Phenotype	Significance	ClinVar
20-33667502-C-G		not specified	Uncertain significance (Feb 06, 2024)
20-33667542-C-G		not specified	Likely benign (Mar 13, 2023)
20-33667598-C-A		not specified	Uncertain significance (Nov 12, 2021)
20-33667655-C-G		not specified	Uncertain significance (May 18, 2022)
20-33667682-C-T		not specified	Uncertain significance (Mar 21, 2023)
20-33667687-A-C		not specified	Uncertain significance (Feb 06, 2024)
20-33667721-A-G		not specified	Uncertain significance (Jun 19, 2024)
20-33667730-C-T		not specified	Uncertain significance (Mar 15, 2024)
20-33667816-A-G		not specified	Uncertain significance (Sep 09, 2021)
20-33667908-G-C		not specified	Uncertain significance (Oct 25, 2022)
20-33667921-G-A		not specified	Likely benign (Aug 02, 2023)
20-33667985-T-C		not specified	Uncertain significance (Jul 20, 2021)
20-33667996-G-A		not specified	Uncertain significance (Feb 27, 2023)
20-33668023-G-C		not specified	Uncertain significance (Dec 20, 2023)
20-33668060-G-A		not specified	Uncertain significance (Dec 15, 2022)
20-33668107-G-C		not specified	Uncertain significance (May 30, 2024)
20-33668123-T-G		not specified	Uncertain significance (Jun 02, 2024)
20-33668128-A-T		not specified	Uncertain significance (Jul 14, 2021)
20-33668183-G-C		not specified	Uncertain significance (Jan 30, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP