ANKS6 |
- 30
Haplo
Score - -5
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- ANKS6 (HGNC:26724) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- ankyrin repeat and sterile alpha motif domain containing 6
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- SAMD6, ANKRD14
- Alias symbols
- FLJ36928, NPHP16
- %HI
- 50.29(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 0.87(Read more about gnomAD LOEUF score)
- Cytoband
- 9q22.33
- Genomic Coordinates
-
GRCh37/hg19: chr9:101494291-101558837 NCBI Ensembl UCSC GRCh38/hg38: chr9:98732009-98796555 NCBI Ensembl UCSC - MANE Select Transcript
- NM_173551.5 ENST00000353234.5 (Read more about MANE Select)
- Function
- Required for renal function. {ECO:0000269|PubMed:23793029}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-19297
ClinGen Curation ID:
CCID:006668
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
Not Yet Evaluated
Last Evaluated:
08/22/2016
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- nephronophthisis 16 Monarch
Triplosensitivity (TS) Score Details
TS Evidence Strength:
Not Yet Evaluated (Disclaimer)
Genomic View
Select assembly:
(NC_000009.11)
(NC_000009.12)