CARS1-AS1

CARS1 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 11:3029009-3041260

Previous symbols: [ "CARS-AS1" ]

Links

ENSG00000247473 ∙ ∙ ∙ HGNC:40125 ∙ ∙ ∙ 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 CARS1-AS1 gene.

• not provided (10 variants)
• Inborn genetic diseases (7 variants)
• Microcephaly, developmental delay, and brittle hair syndrome (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CARS1-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	9	4	6	20
Total	0	1	9	4	6

Highest pathogenic variant AF is 0.0000131

Variants in CARS1-AS1

This is a list of pathogenic ClinVar variants found in the CARS1-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
11-3029014-A-G		Microcephaly, developmental delay, and brittle hair syndrome	Uncertain significance (Jul 02, 2020)
11-3029042-G-A		not specified	Uncertain significance (Dec 13, 2022)
11-3029047-T-C		Microcephaly, developmental delay, and brittle hair syndrome • not specified	Uncertain significance (Jan 30, 2024)
11-3029319-T-C		not specified	Uncertain significance (Aug 14, 2023)
11-3029334-C-G		not specified	Uncertain significance (Aug 17, 2022)
11-3029354-C-T			Likely benign (Jul 01, 2022)
11-3029376-G-T		not specified	Uncertain significance (Sep 14, 2021)
11-3029392-G-A			Benign (Jul 01, 2024)
11-3029397-G-C			Benign (Mar 29, 2018)
11-3029400-T-G		not specified	Uncertain significance (Jun 27, 2023)
11-3038078-G-C		not specified	Uncertain significance (Jan 06, 2023)
11-3038078-G-T		not specified	Uncertain significance (Jun 16, 2024)
11-3038083-T-C			Likely benign (Jun 01, 2022)
11-3038108-G-A		not specified	Uncertain significance (Dec 11, 2023)
11-3038127-C-T		not specified	Uncertain significance (May 10, 2024)
11-3038130-C-A			Benign (Jun 28, 2017)
11-3038130-C-T		not specified	Uncertain significance (Jun 21, 2023)
11-3038142-G-A		not specified	Uncertain significance (Mar 08, 2024)
11-3038145-C-T		not specified	Uncertain significance (Apr 09, 2024)
11-3038163-C-T		not specified	Uncertain significance (Jun 07, 2024)
11-3038164-G-A			Benign (Jul 26, 2018)
11-3038171-G-A		not specified	Uncertain significance (Jul 12, 2023)
11-3039191-C-T			Benign (Apr 10, 2018)
11-3039202-C-T		not specified	Uncertain significance (Feb 27, 2023)
11-3039204-G-T		not specified	Uncertain significance (May 26, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP