DHRS4-AS1

DHRS4 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 14:23938219-24075861

Previous symbols: [ "C14orf167" ]

Links

ENSG00000215256 ∙ NCBI:55449 ∙ OMIM:616925 ∙ HGNC:23175 ∙ Uniprot:Q9P1J3 ∙ 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 DHRS4-AS1 gene.

• Inborn genetic diseases (38 variants)
• not provided (6 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DHRS4-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			36	5	3	44
Total	0	0	36	5	3

Variants in DHRS4-AS1

This is a list of pathogenic ClinVar variants found in the DHRS4-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
14-23953822-C-A			Benign (Feb 25, 2018)
14-23953829-G-C		not specified	Uncertain significance (Feb 03, 2022)
14-23953844-T-G		not specified	Uncertain significance (Feb 16, 2023)
14-23953847-C-T		not specified	Uncertain significance (Jun 16, 2023)
14-23953859-T-G		not specified	Uncertain significance (Jan 26, 2022)
14-23953862-C-T		not specified	Uncertain significance (Feb 03, 2022)
14-23953882-A-G		not specified	Uncertain significance (Dec 16, 2023)
14-23955055-G-A		not specified	Uncertain significance (Mar 31, 2023)
14-23955097-G-A			Likely benign (Dec 31, 2019)
14-23955103-A-C		not specified	Uncertain significance (Jun 28, 2022)
14-23955107-G-C		not specified	Uncertain significance (Aug 28, 2024)
14-23955112-T-A		not specified	Uncertain significance (Jan 30, 2024)
14-23955121-C-T		not specified	Uncertain significance (Aug 07, 2024)
14-23955130-C-T		not specified	Uncertain significance (Jul 30, 2024)
14-23955135-C-G		not specified	Uncertain significance (Jun 21, 2023)
14-23955165-G-C		not specified	Uncertain significance (Dec 03, 2024)
14-23955182-G-C		not specified	Uncertain significance (Sep 11, 2024)
14-23955191-C-G		not specified	Uncertain significance (Jan 10, 2022)
14-23955192-C-G		not specified	Uncertain significance (Apr 25, 2022)
14-23955204-G-C		not specified	Uncertain significance (Jul 14, 2024)
14-23959921-G-T		not specified	Uncertain significance (Oct 09, 2024)
14-23959956-C-A		not specified	Uncertain significance (May 09, 2023)
14-23959966-G-A		not specified	Uncertain significance (Jul 19, 2022)
14-23959978-A-C		not specified	Uncertain significance (Apr 19, 2024)
14-23959985-T-C			Likely benign (Mar 29, 2018)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• pHI: 0.0860

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium