FAM161A
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
FAM161A (HGNC:25808) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
FAM161 centrosomal protein A
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
RP28
Alias symbols
FLJ13305
%HI
75.75(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.03(Read more about gnomAD LOEUF score)
Cytoband
2p15
Genomic Coordinates
GRCh37/hg19: chr2:62051983-62081195 NCBI Ensembl UCSC
GRCh38/hg38: chr2:61800240-61854060 NCBI Ensembl UCSC
MANE Select Transcript
NM_001201543.2 ENST00000404929.6 (Read more about MANE Select)
Function
Involved in ciliogenesis. {ECO:0000269|PubMed:22940612}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-6432
ClinGen Curation ID:
CCID:007112
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000002.11) (NC_000002.12)