BAALC-AS1

BAALC antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 8:103153394-103371410

Links

ENSG00000247081 ∙ NCBI:100499183 ∙ ∙ HGNC:50461 ∙ ∙ ∙ 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 BAALC-AS1 gene.

• Inborn genetic diseases (7 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BAALC-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			7			7
Total	0	0	7	0	0

Variants in BAALC-AS1

This is a list of pathogenic ClinVar variants found in the BAALC-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
8-103212970-C-T		not specified	Uncertain significance (Jun 07, 2023)
8-103212981-C-A		not specified	Uncertain significance (Nov 29, 2021)
8-103213000-C-T		not specified	Likely benign (Jun 10, 2024)
8-103213033-G-A		not specified	Uncertain significance (Jun 22, 2023)
8-103213038-A-G		not specified	Uncertain significance (Dec 03, 2021)
8-103227997-A-T		not specified	Uncertain significance (Dec 08, 2023)
8-103228059-T-C		not specified	Uncertain significance (Aug 08, 2023)
8-103228071-G-A		not specified	Uncertain significance (May 18, 2023)
8-103228089-G-A		not specified	Uncertain significance (Feb 16, 2023)
8-103300150-C-A		Inborn genetic diseases	Uncertain significance (Apr 25, 2023)
8-103300153-C-G		FZD6-related disorder	Likely benign (Jan 13, 2020)
8-103300204-A-G		Nonsyndromic congenital nail disorder 1	Benign (Aug 10, 2021)
8-103300265-T-G		Inborn genetic diseases	Uncertain significance (Mar 15, 2024)
8-103318590-C-T		Inborn genetic diseases	Uncertain significance (Feb 28, 2024)
8-103318630-T-C		Inborn genetic diseases	Uncertain significance (Mar 29, 2022)
8-103318675-A-C		Inborn genetic diseases	Uncertain significance (Apr 17, 2023)
8-103318698-C-T		Nonsyndromic congenital nail disorder 1	Uncertain significance (Jan 04, 2017)
8-103318756-T-G		Inborn genetic diseases	Uncertain significance (Feb 07, 2023)
8-103318758-C-T		Nephroblastoma	Pathogenic (Nov 24, 2017)
8-103318794-A-G		FZD6-related disorder	Benign (Jan 27, 2020)
8-103324494-G-A		Inborn genetic diseases	Uncertain significance (Jun 07, 2023)
8-103324496-T-A		Inborn genetic diseases	Uncertain significance (May 01, 2022)
8-103324543-C-T		Inborn genetic diseases	Uncertain significance (Mar 05, 2024)
8-103324572-G-C		Inborn genetic diseases	Uncertain significance (Mar 20, 2023)
8-103324579-G-T		Inborn genetic diseases	Uncertain significance (Dec 08, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP