BAHCC1

protein-coding

BAH domain and coiled-coil containing 1

Gene summary

Predicted to enable chromatin binding activity. Predicted to act upstream of or within chromatin organization; locomotory behavior; and neuron differentiation. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_001377448.1

Inheritance

—

ClinVar variants

U:18B:12

Top phenotype

—

Max pathogenic AF

—

Genomic locus

chr17:81,395,457-81,466,331

External References & Databases

Ensembl (ENSG00000266074)

Transcript & Mutation Effects

hg38 • Region Span ~70.9 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to BAHCC1 variants in ClinVar

2 Conditions Cataloged

not providedTotal: 14

not specifiedTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001377448.1. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			3 clinvar	8 clinvar		11
missense			11 clinvar	4 clinvar		15
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			3 clinvar			3
Total	0	0	18	12	0	30

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 9 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001377448.1	RefSeq	NP_001364377.1	27	MANE Select
ENST00000675386.2	Ensembl	ENSP00000502710.1	27	MANE Select
NM_001291324.3	RefSeq	NP_001278253.1	28	Standard
ENST00000584436.7	Ensembl	ENSP00000462154.4	28	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Molecular Function

chromatin binding

dbNSFP Gene Annotations

Source: dbNSFP

Essentials

Essential (CRISPR2): N
Indispensability pred.: E
Indispensability score: 0.664