ALDH1A3-AS1

ALDH1A3 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 15:100892343-100920312

Links

ENSG00000259583 ∙ NCBI:101927751 ∙ ∙ HGNC:55416 ∙ ∙ ∙ 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 ALDH1A3-AS1 gene.

• not provided (42 variants)
• Isolated microphthalmia 8 (38 variants)
• Inborn genetic diseases (7 variants)
• not specified (3 variants)
• Isolated anophthalmia-microphthalmia syndrome (2 variants)
• Autism (1 variants)
• Microphthalmia (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ALDH1A3-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	9	7	18	26	26	86
Total	9	7	18	26	26

Highest pathogenic variant AF is 0.0000131

Variants in ALDH1A3-AS1

This is a list of pathogenic ClinVar variants found in the ALDH1A3-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
15-100892476-T-C			Benign (Oct 22, 2019)
15-100892506-G-A			Likely benign (Feb 20, 2018)
15-100892525-G-A		Isolated microphthalmia 8	Uncertain significance (Jul 05, 2022)
15-100892529-C-G			Uncertain significance (Oct 01, 2018)
15-100892530-A-G		Isolated microphthalmia 8	Likely benign (Jun 22, 2022)
15-100892596-T-C		Isolated microphthalmia 8	Likely benign (Oct 03, 2023)
15-100892597-GCAGGGTGGGCAGACAAAATC-G		Isolated microphthalmia 8	Pathogenic (Apr 23, 2021)
15-100892598-C-T		Isolated microphthalmia 8	Likely pathogenic (Mar 17, 2024)
15-100892640-G-T		Isolated microphthalmia 8	Pathogenic (Feb 07, 2013)
15-100892708-C-G			Benign (May 10, 2021)
15-100892956-G-A		Inborn genetic diseases	Uncertain significance (May 24, 2023)
15-100892971-C-T		Inborn genetic diseases	Uncertain significance (Feb 10, 2022)
15-100893011-G-A			Pathogenic (Nov 04, 2015)
15-100893950-G-A		Isolated microphthalmia 8	Likely benign (Mar 30, 2020)
15-100893961-TC-T		Isolated microphthalmia 8	Pathogenic (Dec 02, 2022)
15-100893982-G-A		Isolated microphthalmia 8	Pathogenic (Sep 01, 2022)
15-100894028-G-T		Inborn genetic diseases	Uncertain significance (Sep 18, 2023)
15-100894033-C-T		Isolated microphthalmia 8	Uncertain significance (Sep 07, 2022)
15-100894365-A-AG			Benign (Nov 20, 2020)
15-100895688-C-T			Likely benign (Dec 01, 2018)
15-100895882-G-A			Likely benign (Apr 09, 2019)
15-100895956-G-A		Isolated microphthalmia 8 • ALDH1A3-related disorder	Likely benign (Oct 10, 2022)
15-100895963-G-A		Inborn genetic diseases	Uncertain significance (Dec 21, 2023)
15-100895974-C-T			Benign (Jun 14, 2018)
15-100895975-G-A		Isolated anophthalmia-microphthalmia syndrome	Pathogenic (-)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP