NM_000163.5(GHR):c.*1554G>A AND Laron-type isolated somatotropin defect
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000298938.5
Allele description [Variation Report for NM_000163.5(GHR):c.*1554G>A]
NM_000163.5(GHR):c.*1554G>A
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
-
Conjunctivitis, Allergic
Conjunctivitis, AllergicConjunctivitis due to hypersensitivity to various allergens.<br/>Year introduced: 1986MeSH
-
D003233 (1)
MeSH
-
Homo sapiens cDNA clone IMAGE:4026267, containing frame-shift errors
Homo sapiens cDNA clone IMAGE:4026267, containing frame-shift errorsgi|33991468|gb|BC011937.2|Nucleotide
-
602708743F1 NIH_MGC_43 Homo sapiens cDNA clone IMAGE:4845299 5', mRNA sequence
602708743F1 NIH_MGC_43 Homo sapiens cDNA clone IMAGE:4845299 5', mRNA sequencegi|14060643|gnl|dbEST|8509934|gb|BG 0.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Dec 30, 2023