CA3-AS1

CA3 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 8:85440537-85469968

Links

ENSG00000253549 ∙ NCBI:100996348 ∙ ∙ HGNC:51657 ∙ ∙ ∙ 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 CA3-AS1 gene.

• Osteopetrosis with renal tubular acidosis (8 variants)
• not provided (5 variants)
• Inborn genetic diseases (4 variants)
• Neurodevelopmental delay (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CA3-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	1	1	11	2	2	17
Total	1	1	11	2	2

Variants in CA3-AS1

This is a list of pathogenic ClinVar variants found in the CA3-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
8-85442084-G-A		not specified	Uncertain significance (Mar 21, 2023)
8-85442184-C-A		not specified	Uncertain significance (Dec 01, 2022)
8-85446197-G-A		not specified	Uncertain significance (Aug 04, 2023)
8-85448118-A-G		not specified	Uncertain significance (Dec 03, 2021)
8-85463769-A-AGGAGCCCC			Benign (Jan 11, 2020)
8-85463769-A-AGGAGCCCCGGAGCCCC			Likely benign (Mar 07, 2020)
8-85463901-A-T		Osteopetrosis with renal tubular acidosis	Benign (Nov 10, 2018)
8-85463906-C-T		Osteopetrosis with renal tubular acidosis	Uncertain significance (Jun 14, 2016)
8-85463944-G-A		Osteopetrosis with renal tubular acidosis	Uncertain significance (Jun 14, 2016)
8-85463952-C-A		Osteopetrosis with renal tubular acidosis	Uncertain significance (Jun 14, 2016)
8-85463997-A-ACCC		Osteopetrosis with renal tubular acidosis	Uncertain significance (Jun 14, 2016)
8-85464029-G-T		Osteopetrosis with renal tubular acidosis	Uncertain significance (Jan 12, 2018)
8-85464039-G-C		Osteopetrosis with renal tubular acidosis	Uncertain significance (Jan 13, 2018)
8-85464083-T-G		Neurodevelopmental delay	Likely pathogenic (-)
8-85464097-G-C			Uncertain significance (May 23, 2023)
8-85464102-C-A		Osteopetrosis with renal tubular acidosis	Pathogenic (Dec 03, 2017)
8-85464133-C-A			Likely benign (Oct 29, 2023)
8-85464134-C-T			Likely benign (May 29, 2022)
8-85465108-A-C			Likely benign (Sep 21, 2020)
8-85465253-CAT-C			Likely benign (Jan 22, 2024)
8-85465265-C-A		CA2-related disorder	Conflicting classifications of pathogenicity (Oct 22, 2023)
8-85465267-C-G			Uncertain significance (Nov 30, 2021)
8-85465268-C-T			Likely benign (Jun 14, 2023)
8-85465277-G-A		Osteopetrosis with renal tubular acidosis • Inborn genetic diseases	Uncertain significance (Feb 17, 2023)
8-85465289-A-C			Benign (Mar 22, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP