BAHCC1

BAH domain and coiled-coil containing 1

Basic information

Region (hg38): 17:81395456-81466331

Links

ENSG00000266074 ∙ NCBI:57597 ∙ OMIM:617646 ∙ HGNC:29279 ∙ Uniprot:Q9P281 ∙ AlphaFold ∙ 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 BAHCC1 gene.

• not provided (10 variants)
• Inborn genetic diseases (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BAHCC1 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				7		7
missense			2	3		5
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	2	10	0

Variants in BAHCC1

This is a list of pathogenic ClinVar variants found in the BAHCC1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
17-81399786-G-A		not specified	Uncertain significance (Nov 12, 2021)
17-81399818-G-T		not specified	Uncertain significance (Sep 28, 2021)
17-81438420-G-A			Likely benign (Dec 01, 2022)
17-81442006-C-T			Likely benign (Oct 01, 2022)
17-81442945-G-A			Likely benign (Jun 01, 2022)
17-81443902-G-T			Likely benign (Jan 01, 2023)
17-81445621-G-A			Likely benign (Jul 01, 2022)
17-81447231-T-C			Likely benign (Dec 01, 2023)
17-81458647-G-A			Likely benign (Feb 01, 2024)
17-81458716-C-T			Likely benign (Dec 01, 2022)
17-81459073-C-T			Likely benign (Jul 01, 2022)
17-81459100-C-T			Likely benign (Oct 01, 2022)
17-81461578-C-T			Likely benign (Aug 01, 2022)
17-81461860-C-T			Likely benign (Mar 01, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• pHI: 0.353

Essentials

• essential_gene_CRISPR2: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.664

Mouse Genome Informatics

• Gene name: Bahcc1
• Phenotype: behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span)

Gene ontology

• Molecular function: chromatin binding