NM_198407.2(GHSR):c.*829C>A AND Short stature due to growth hormone secretagogue receptor deficiency
- Germline classification:
- Likely 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:
- RCV000362395.5
Allele description [Variation Report for NM_198407.2(GHSR):c.*829C>A]
NM_198407.2(GHSR):c.*829C>A
Condition(s)
-
deubiquitinase DESI2 isoform X2 [Papio anubis]
deubiquitinase DESI2 isoform X2 [Papio anubis]gi|402858472|ref|XP_003893727.1|Protein
-
Testicular Mixed Yolk Sac Tumor and Teratoma
Testicular Mixed Yolk Sac Tumor and TeratomaMedGen
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See more...Assertion and evidence details
Last Updated: Dec 24, 2023