CFAP44-AS1

CFAP44 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 3:113403966-113433992

Previous symbols: [ "WDR52-AS1" ]

Links

ENSG00000243849 ∙ ∙ ∙ HGNC:41113 ∙ ∙ ∙ 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 CFAP44-AS1 gene.

• Inborn genetic diseases (12 variants)
• not provided (11 variants)
• Spermatogenic failure 20 (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CFAP44-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	2	1	13	3	6	25
Total	2	1	13	3	6

Highest pathogenic variant AF is 0.000447

Variants in CFAP44-AS1

This is a list of pathogenic ClinVar variants found in the CFAP44-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
3-113406947-T-C		Inborn genetic diseases	Uncertain significance (Jan 05, 2022)
3-113406971-T-C		Inborn genetic diseases	Uncertain significance (Feb 25, 2025)
3-113406982-A-G		Inborn genetic diseases	Uncertain significance (Dec 27, 2023)
3-113406994-G-A		Inborn genetic diseases	Uncertain significance (Feb 10, 2023)
3-113407021-G-A		Inborn genetic diseases	Uncertain significance (Jan 18, 2025)
3-113409124-G-A		Inborn genetic diseases	Uncertain significance (Jan 18, 2022)
3-113409125-A-T		Inborn genetic diseases	Uncertain significance (Feb 09, 2025)
3-113409126-T-C			Likely benign (May 01, 2022)
3-113409148-T-A		Inborn genetic diseases	Uncertain significance (Oct 14, 2021)
3-113409199-A-G		Inborn genetic diseases	Uncertain significance (Jan 04, 2025)
3-113409230-T-A		Inborn genetic diseases	Uncertain significance (Jan 18, 2025)
3-113409249-G-T		Inborn genetic diseases	Uncertain significance (Feb 26, 2025)
3-113409279-G-A			Benign/Likely benign (Sep 01, 2024)
3-113416528-G-A		Spermatogenic failure 20	Likely pathogenic (-)
3-113416543-G-A		Inborn genetic diseases	Uncertain significance (Feb 16, 2023)
3-113416545-CT-C			Conflicting classifications of pathogenicity (Jan 08, 2021)
3-113416557-T-A		Inborn genetic diseases	Uncertain significance (Aug 23, 2021)
3-113416575-T-C		Inborn genetic diseases	Uncertain significance (Jul 17, 2024)
3-113416584-C-T		Inborn genetic diseases	Uncertain significance (Mar 20, 2023)
3-113416594-C-T		Inborn genetic diseases	Uncertain significance (Dec 14, 2022)
3-113416600-C-T		Inborn genetic diseases	Uncertain significance (Feb 28, 2024)
3-113416613-T-G		Inborn genetic diseases	Uncertain significance (Nov 25, 2024)
3-113416627-C-T		Inborn genetic diseases	Uncertain significance (Dec 21, 2023)
3-113420038-A-G			Benign (Dec 31, 2019)
3-113420052-G-A			Pathogenic (Jun 28, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP