NM_000548.5(TSC2):c.1716+15C>G AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 28, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002482614.1
Allele description [Variation Report for NM_000548.5(TSC2):c.1716+15C>G]
NM_000548.5(TSC2):c.1716+15C>G
Condition(s)
- Name:
- Lymphangiomyomatosis (LAM)
- Synonyms:
- Lymphangioleiomyomatosis; Lymphangioleiomyomatosis, somatic
- Identifiers:
- MONDO: MONDO:0011705; MedGen: C0751674; Orphanet: 538; OMIM: 606690
- Name:
- Isolated focal cortical dysplasia type II (FCORD2)
- Synonyms:
- Focal cortical dysplasia of Taylor; Cortical dysplasia of Taylor; Focal cortical dysplasia type 2; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011818; MedGen: C1846385; OMIM: 607341; Human Phenotype Ontology: HP:0032051
-
Homo sapiens erythroblast membrane associated protein (Scianna blood group) (ERM...
Homo sapiens erythroblast membrane associated protein (Scianna blood group) (ERMAP), transcript variant 2, mRNAgi|1889463332|ref|NM_018538.4|Nucleotide
-
LOC110715868 [Chenopodium quinoa]
LOC110715868 [Chenopodium quinoa]Gene ID:110715868Gene
-
Homo sapiens chromosome 15, clone RP11-352G18, complete sequence
Homo sapiens chromosome 15, clone RP11-352G18, complete sequencegi|23196524|gnl|WIBR|L9770|gb|AC055 |Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024