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Term ID: | 7966 |
Name: | MICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS |
Definition: | |
Alternative IDs: | |
ParentIDs: | MESH:C562941|MESH:D003317|MESH:D008850 |
TreeNumbers: | C05.660.207/C562941/615458 |C11.204.236/615458 |C11.250.566/615458 |C11.270.162/615458 |C16.131.384.666/615458 |C16.131.621.207/C562941/615458 |C16.320.290.162/615458 |
Synonyms: | MMCAT |
Slim Mappings: | Congenital abnormality|Eye disease|Genetic disease (inborn)|Musculoskeletal disease |
Reference: |
MedGen: 615458
MeSH: 615458
OMIM: 615458; MSeqDR : Genes: ADAMTS18; | 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 | NM_199355.4(ADAMTS18):c.2065G>T (p.Glu689Ter) | 170692 | ADAMTS18 | Pathogenic | rs397515467 | RCV000056279; | N | MONDO:MONDO:0014195,MedGen:C3809567,OMIM:615458, Orphanet:369970 | 16 | 77356331 | 77356331 | C | A | 16:g.77356331C>A | ClinGen:CA144840,OMIM:607512.0003 | C3809567 615458 Microcornea, myopic chorioretinal atrophy, and telecanthus; | | NM_199355.4(ADAMTS18):c.1731C>G (p.Cys577Trp) | 170692 | ADAMTS18 | Pathogenic | rs148319220 | RCV000056278; | N | MONDO:MONDO:0014195,MedGen:C3809567,OMIM:615458, Orphanet:369970 | 16 | 77369781 | 77369781 | G | C | 16:g.77369781G>C | ClinGen:CA144839,UniProtKB:Q8TE60#VAR_070850,OMIM:607512.0002 | C3809567 615458 Microcornea, myopic chorioretinal atrophy, and telecanthus; | | NM_199355.4(ADAMTS18):c.605T>C (p.Leu202Pro) | 170692 | ADAMTS18 | Pathogenic | rs397515468 | RCV000056280; | N | MONDO:MONDO:0014195,MedGen:C3809567,OMIM:615458, Orphanet:369970 | 16 | 77401511 | 77401511 | A | G | 16:g.77401511A>G | ClinGen:CA144842,UniProtKB:Q8TE60#VAR_070849,OMIM:607512.0004 | C3809567 615458 Microcornea, myopic chorioretinal atrophy, and telecanthus; | | NM_199355.4(ADAMTS18):c.571T>C (p.Tyr191His) | 170692 | ADAMTS18 | Benign | rs11643211 | RCV000989637; | N | MONDO:MONDO:0014195,MedGen:C3809567,OMIM:615458, Orphanet:369970 | 16 | 77401545 | 77401545 | A | G | 16:g.77401545A>G | - | | | NM_199355.4(ADAMTS18):c.97C>T (p.Gln33Ter) | 170692 | ADAMTS18 | Pathogenic | rs397515469 | RCV000056281; | N | MONDO:MONDO:0014195,MedGen:C3809567,OMIM:615458, Orphanet:369970 | 16 | 77468396 | 77468396 | G | A | 16:g.77468396G>A | ClinGen:CA144843,OMIM:607512.0005 | C3809567 615458 Microcornea, myopic chorioretinal atrophy, and telecanthus; | |
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