BAHCC1 (BAH domain and coiled-coil containing 1)

2014-11-01  

Identity

HGNC
LOCATION
17q25.3
LOCUSID
ALIAS
BAHD2
FUSION GENES

Other Information

Locus ID:

NCBI: 57597
MIM: 617646
HGNC: 29279
Ensembl: ENSG00000266074

Variants:

dbSNP: 57597
ClinVar: 57597
TCGA: ENSG00000266074
COSMIC: BAHCC1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000266074ENST00000307745F8WBW8
ENSG00000266074ENST00000584436Q9P281

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
279281632017TBCD may be a causal gene in progressive neurodegenerative encephalopathy with atypical infantile spinal muscular atrophy.3

Citation

Dessen P

BAHCC1 (BAH domain and coiled-coil containing 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60698/bahcc1-(bah-domain-and-coiled-coil-containing-1)