NM_000168.6(GLI3):c.974G>A (p.Arg325His) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 20, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002481793.2
Allele description [Variation Report for NM_000168.6(GLI3):c.974G>A (p.Arg325His)]
NM_000168.6(GLI3):c.974G>A (p.Arg325His)
Condition(s)
- Name:
- Greig cephalopolysyndactyly syndrome (GCPS)
- Synonyms:
- Greig syndrome; Polysyndactyly with peculiar skull shape
- Identifiers:
- MONDO: MONDO:0008287; MedGen: C0265306; Orphanet: 380; OMIM: 175700
- Name:
- Pallister-Hall syndrome (PHS)
- Synonyms:
- Hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly
- Identifiers:
- MONDO: MONDO:0007804; MedGen: C0265220; Orphanet: 672; OMIM: 146510
-
membrane-associated kinase regulator [Arabidopsis thaliana]
membrane-associated kinase regulator [Arabidopsis thaliana]gi|15239627|ref|NP_197995.1|Protein
-
Infarction
InfarctionFormation of an infarct, which is NECROSIS in tissue due to local ISCHEMIA resulting from obstruction of BLOOD CIRCULATION, most commonly by a THROMBUS or EMBOLUS....<br/>MeSH
-
D007238 (1)
MeSH
-
SRX257604 (1)
SRA
-
Acupuncture Therapy
Acupuncture TherapyTreatment of disease by inserting needles along specific pathways or meridians. The placement varies with the disease being treated. It is sometimes used in conjunction with h...<br/>Year introduced: 1990MeSH
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Oct 20, 2024