SRD5A3-AS1

SRD5A3 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 4:55363971-55396096

Links

ENSG00000249700 ∙ NCBI:100506462 ∙ ∙ HGNC:44138 ∙ ∙ ∙ 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 SRD5A3-AS1 gene.

• SRD5A3-congenital disorder of glycosylation (2 variants)
• Abnormality of the nervous system (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SRD5A3-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	6	81	28	22	139
Total	2	6	81	28	22

Variants in SRD5A3-AS1

This is a list of pathogenic ClinVar variants found in the SRD5A3-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
4-55364055-G-C		SRD5A3-congenital disorder of glycosylation	Likely benign (Jun 03, 2023)
4-55364059-C-T		not specified • SRD5A3-congenital disorder of glycosylation	Likely benign (Mar 18, 2023)
4-55364068-T-C		not specified	Likely benign (May 02, 2016)
4-55364099-C-G		SRD5A3-congenital disorder of glycosylation	Uncertain significance (Feb 09, 2022)
4-55364125-A-G		SRD5A3-congenital disorder of glycosylation	Uncertain significance (Sep 19, 2020)
4-55364132-A-G		SRD5A3-congenital disorder of glycosylation	Likely benign (Sep 03, 2021)
4-55364133-C-T		SRD5A3-congenital disorder of glycosylation • Abnormality of the nervous system	Pathogenic (Jul 10, 2021)
4-55364142-T-C		SRD5A3-congenital disorder of glycosylation	Uncertain significance (Sep 01, 2021)
4-55364144-C-T			Likely benign (Oct 09, 2017)
4-55364145-G-A		SRD5A3-congenital disorder of glycosylation	Conflicting classifications of pathogenicity (Jan 24, 2022)
4-55364153-C-T		not specified • SRD5A3-congenital disorder of glycosylation	Likely benign (Dec 15, 2022)
4-55364153-C-CTA		SRD5A3-related disorder	Likely pathogenic (Feb 27, 2023)
4-55364156-C-T			Likely benign (Apr 27, 2020)
4-55364157-G-A		SRD5A3-congenital disorder of glycosylation • Inborn genetic diseases	Uncertain significance (Jul 19, 2022)
4-55364173-A-G		SRD5A3-congenital disorder of glycosylation	Uncertain significance (Apr 28, 2022)
4-55364189-C-T		not specified • SRD5A3-congenital disorder of glycosylation	Conflicting classifications of pathogenicity (Dec 11, 2023)
4-55364193-C-T		SRD5A3-congenital disorder of glycosylation;Kahrizi syndrome	Likely pathogenic (Jun 20, 2019)
4-55364198-C-A		SRD5A3-congenital disorder of glycosylation	Pathogenic (Jul 23, 2010)
4-55364200-G-A		Inborn genetic diseases	Uncertain significance (Jun 09, 2022)
4-55364206-G-A		SRD5A3-congenital disorder of glycosylation	Uncertain significance (May 15, 2019)
4-55364215-A-G		SRD5A3-congenital disorder of glycosylation	Uncertain significance (Sep 07, 2023)
4-55364217-T-C		Inborn genetic diseases	Uncertain significance (Mar 25, 2024)
4-55364218-A-G		Inborn genetic diseases	Uncertain significance (Jan 10, 2022)
4-55364226-G-A		SRD5A3-congenital disorder of glycosylation • Inborn genetic diseases	Uncertain significance (Jun 25, 2024)
4-55364256-A-T		EBV-positive nodal T- and NK-cell lymphoma	Likely benign (-)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP