NM_000163.5(GHR):c.660G>T (p.Leu220Phe) AND Laron-type isolated somatotropin defect
- Germline classification:
- Uncertain significance (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:
- RCV000380451.5
Allele description [Variation Report for NM_000163.5(GHR):c.660G>T (p.Leu220Phe)]
NM_000163.5(GHR):c.660G>T (p.Leu220Phe)
Condition(s)
- Name:
- Laron-type isolated somatotropin defect
- Synonyms:
- Laron Syndrome; Growth hormone receptor deficiency; Growth hormone binding protein deficiency or dysfunction; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009877; MedGen: C0271568; Orphanet: 633; OMIM: 262500
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coiled-coil domain-containing protein 69 [Mus musculus]
coiled-coil domain-containing protein 69 [Mus musculus]gi|115270981|ref|NP_803422.2|Protein
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Mus musculus sphingosine-1-phosphate receptor 4, mRNA (cDNA clone MGC:129298 IMA...
Mus musculus sphingosine-1-phosphate receptor 4, mRNA (cDNA clone MGC:129298 IMAGE:40045304), complete cdsgi|76827983|gb|BC107000.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Dec 30, 2023