ARHGAP44-AS1

ARHGAP44 and MYOCD antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 17:12760140-12790242

Links

ENSG00000265489 ∙ NCBI:100128006 ∙ ∙ HGNC:55326 ∙ ∙ ∙ 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 ARHGAP44-AS1 gene.

• not provided (10 variants)
• Inborn genetic diseases (10 variants)
• Malignant tumor of prostate (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ARHGAP44-AS1 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			11		9	20
Total	0	0	11	0	9

Variants in ARHGAP44-AS1

This is a list of pathogenic ClinVar variants found in the ARHGAP44-AS1 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-12760379-G-A			Benign (Nov 12, 2018)
17-12760404-G-T			Benign (Nov 12, 2018)
17-12760524-C-T			Benign (Jun 20, 2021)
17-12760660-G-A		not specified	Uncertain significance (Jan 07, 2022)
17-12760860-T-C			Benign (Nov 12, 2018)
17-12760999-CTTCT-C			Benign (Nov 12, 2018)
17-12763087-G-A		not specified	Uncertain significance (Dec 15, 2022)
17-12763091-G-A		not specified	Uncertain significance (Aug 16, 2022)
17-12763099-C-G		not specified	Uncertain significance (Jan 08, 2024)
17-12763203-C-A			Benign (Jan 01, 2023)
17-12763219-C-T		not specified	Uncertain significance (Jun 14, 2023)
17-12763317-C-A		not specified	Uncertain significance (Jan 05, 2022)
17-12763317-C-T			Benign (Jun 09, 2021)
17-12763359-GA-G		Malignant tumor of prostate	Uncertain significance (-)
17-12763372-G-C		not specified	Uncertain significance (Oct 18, 2022)
17-12763404-C-G			Benign (Dec 31, 2019)
17-12763420-C-A		not specified	Uncertain significance (Jan 26, 2023)
17-12763422-G-A			Benign (Jun 09, 2021)
17-12763475-C-G		not specified	Uncertain significance (Feb 14, 2023)
17-12763517-C-T		not specified	Uncertain significance (Oct 06, 2021)
17-12763576-A-G		not specified	Uncertain significance (Oct 12, 2021)
17-12763650-C-T		MYOCD-related condition	Likely benign (Jul 23, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP