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Term ID: | 1845 |
Name: | Cataract, Juvenile, With Microcornea And Glucosuria |
Definition: | |
Alternative IDs: | OMIM:612018 |
ParentIDs: | MESH:D002386|MESH:D006030 |
TreeNumbers: | C11.510.245/C567434 |C12.777.419.815.532/C567434 |C12.777.934.363.450/C567434 |C13.351.968.419.815.532/C567434 |C13.351.968.934.363.450/C567434 |C16.320.565.861.532/C567434 |C18.452.394.937.450/C567434 |C18.452.648.861.532/C567434 |
Synonyms: | CJMG |
Slim Mappings: | Eye disease|Genetic disease (inborn)|Metabolic disease|Urogenital disease (female)|Urogenital disease (male) |
Reference: |
MedGen: C567434
MeSH: C567434
OMIM: 612018;
Genes: SLC16A12; | Phenotypes | | Disease Causing ClinVar Variants | Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_213606.3(SLC16A12):c.733C>T (p.Gln245Ter) | 387700 | SLC16A12 | Pathogenic | 121909386 | RCV000000820; | N | MedGen:C2677587,OMIM:612018,ORPHA:247794 | 10 | 91198656 | 91198656 | NM_213606.3:c.733C>T | NP_998771.3:p.Gln245Ter | NC_000010.10:g.91198656G>A | OMIM Allelic Variant:611910.0001 | C2677587 612018 Cataract, juvenile, with microcornea and glucosuria | | |
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