TMEM44-AS2

TMEM44 antisense RNA 2, the group of Antisense RNAs

Basic information

Region (hg38): 3:194632903-194645407

Links

ENSG00000229334 ∙ ∙ ∙ HGNC:41082 ∙ ∙ ∙ 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 TMEM44-AS2 gene.

• Inborn genetic diseases (14 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMEM44-AS2 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			13	2		15
Total	0	0	13	2	0

Variants in TMEM44-AS2

This is a list of pathogenic ClinVar variants found in the TMEM44-AS2 region.

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

Position	Type	Phenotype	Significance	ClinVar
3-194633104-A-G		not specified	Uncertain significance (Oct 16, 2024)
3-194633110-C-A		not specified	Uncertain significance (Apr 07, 2023)
3-194633134-T-G		not specified	Uncertain significance (Feb 27, 2024)
3-194633145-T-C		not specified	Uncertain significance (Jan 19, 2024)
3-194633178-T-G		not specified	Uncertain significance (Jan 26, 2022)
3-194633179-C-T		not specified	Uncertain significance (Apr 07, 2023)
3-194633209-C-T		not specified	Uncertain significance (Jul 19, 2023)
3-194642075-T-A		not specified	Uncertain significance (Aug 12, 2021)
3-194642080-G-C		not specified	Uncertain significance (Jul 09, 2021)
3-194642082-G-A		not specified	Uncertain significance (Aug 04, 2024)
3-194642084-T-C		not specified	Uncertain significance (Mar 07, 2023)
3-194642096-C-T		not specified	Uncertain significance (Dec 22, 2023)
3-194642097-G-A		not specified	Uncertain significance (Nov 23, 2024)
3-194642097-G-C		not specified	Uncertain significance (Jul 27, 2023)
3-194642098-A-C		not specified	Uncertain significance (Jan 27, 2022)
3-194642099-C-T		not specified	Uncertain significance (Jan 23, 2024)
3-194642147-G-A		not specified	Uncertain significance (Sep 17, 2021)
3-194642165-G-A		not specified	Likely benign (Jul 09, 2021)
3-194642165-G-T		not specified	Uncertain significance (Apr 20, 2023)
3-194642194-G-A			Likely benign (Jun 06, 2018)
3-194644596-C-T		not specified	Uncertain significance (Aug 16, 2022)
3-194644636-C-A		not specified	Uncertain significance (Sep 01, 2021)
3-194644649-T-C		not specified	Uncertain significance (Aug 13, 2021)
3-194644727-T-C		not specified	Uncertain significance (Dec 15, 2023)
3-194644731-A-C		not specified	Uncertain significance (May 07, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP