TMEM147-AS1

TMEM147 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 19:35540731-35546029

Links

ENSG00000236144 ∙ NCBI:100506469 ∙ ∙ HGNC:51273 ∙ ∙ ∙ 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 TMEM147-AS1 gene.

• Inborn genetic diseases (11 variants)
• Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly (5 variants)
• not provided (4 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 TMEM147-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	3		14	2	2	21
Total	3	0	14	2	2

Highest pathogenic variant AF is 0.000151

Variants in TMEM147-AS1

This is a list of pathogenic ClinVar variants found in the TMEM147-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
19-35542353-G-A		not specified	Uncertain significance (Nov 21, 2022)
19-35542365-G-A		not specified	Uncertain significance (Aug 16, 2021)
19-35542375-C-G		not specified	Uncertain significance (Aug 03, 2022)
19-35542529-G-A		not specified	Uncertain significance (Mar 16, 2022)
19-35542550-A-G			Benign (Mar 29, 2018)
19-35542950-C-T		not specified	Uncertain significance (May 14, 2024)
19-35543359-C-T		not specified	Uncertain significance (May 13, 2024)
19-35543382-G-A		not specified	Uncertain significance (Jul 09, 2021)
19-35543398-C-T		not specified	Uncertain significance (Dec 13, 2022)
19-35543404-G-A		not specified	Uncertain significance (Dec 15, 2022)
19-35543454-G-T		not specified	Uncertain significance (Feb 27, 2024)
19-35543456-G-A			Benign (Mar 29, 2018)
19-35543712-T-C		not specified	Uncertain significance (May 26, 2022)
19-35543714-G-A		not specified	Uncertain significance (Oct 25, 2022)
19-35543735-G-A		not specified	Uncertain significance (Dec 16, 2022)
19-35543753-T-A		not specified	Uncertain significance (Apr 18, 2023)
19-35543806-C-G		not specified	Uncertain significance (Sep 16, 2021)
19-35544981-G-A		Malignant tumor of prostate	Uncertain significance (-)
19-35544988-T-C		not specified	Uncertain significance (Nov 14, 2023)
19-35544991-T-G		not specified	Uncertain significance (Jan 23, 2024)
19-35545151-T-A		not specified	Uncertain significance (Nov 03, 2023)
19-35545152-G-A		not specified	Uncertain significance (Dec 13, 2023)
19-35545745-C-T			Likely benign (May 01, 2023)
19-35545746-C-T			Likely benign (May 01, 2023)
19-35545753-A-C			Uncertain significance (Jan 04, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP