HNF1A-AS1
Basic information
Previous symbols: [ "C12orf27", "NCRNA00262" ]
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- Monogenic diabetes (101 variants)
- not provided (78 variants)
- Maturity onset diabetes mellitus in young (67 variants)
- not specified (34 variants)
- Maturity-onset diabetes of the young type 3 (30 variants)
- 6 conditions (12 variants)
- Nonpapillary renal cell carcinoma (8 variants)
- Type II diabetes mellitus (3 variants)
- Type 1 diabetes mellitus 20 (2 variants)
- Diabetes mellitus (1 variants)
- Clear cell carcinoma of kidney (1 variants)
- Chromophobe renal cell carcinoma (1 variants)
- Ovarian cancer (1 variants)
- SERUM HDL CHOLESTEROL LEVEL, MODIFIER OF (1 variants)
- Insulin resistance, susceptibility to (1 variants)
- HNF1A-related condition (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the HNF1A-AS1 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 | 0 | |||||
missense | 0 | |||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region ? | 0 | |||||
non coding ? | 27 | 31 | 77 | 30 | 12 | 177 |
Total | 27 | 31 | 77 | 30 | 12 |
Highest pathogenic variant AF is 0.00000733
GnomAD
Source:
dbNSFP
Source:
- Function
- FUNCTION: Catalyzes the addition of GlcNAc or GlcUA monosaccharides to the nascent hyaluronan polymer. Therefore, it is essential to hyaluronan synthesis a major component of most extracellular matrices that has a structural role in tissues architectures and regulates cell adhesion, migration and differentiation. This is one of the isozymes catalyzing that reaction. Also able to catalyze the synthesis of chito- oligosaccharide depending on the substrate (By similarity). {ECO:0000250}.;
Recessive Scores
- pRec
- 0.245
Haploinsufficiency Scores
- pHI
- 0.217
- hipred
- N
- hipred_score
- 0.287
- ghis
Mouse Genome Informatics
- Gene name
- Has1
- Phenotype
- normal phenotype;