NM_014319.5(LEMD3):c.*225A>G AND Dermatofibrosis lenticularis disseminata
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000383175.5
Allele description [Variation Report for NM_014319.5(LEMD3):c.*225A>G]
NM_014319.5(LEMD3):c.*225A>G
Condition(s)
- Name:
- Dermatofibrosis lenticularis disseminata (BOS)
- Synonyms:
- Dermatoosteopoikilosis; Dermatofibrosis, disseminated with osteopoikilosis; Dermatofibrosis lenticularis disseminata with osteopoikilosis; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008157; MedGen: C0265514; Orphanet: 1306; OMIM: 166700
-
IRGQ immunity related GTPase Q [Homo sapiens]
IRGQ immunity related GTPase Q [Homo sapiens]Gene ID:126298Gene
-
Gene Links for GEO Profiles (Select 76532527) (1)
Gene
-
Gene Links for GEO Profiles (Select 76486708) (1)
Gene
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Dec 24, 2023