NM_000216.4(ANOS1):c.1A>G (p.Met1Val) AND Hypogonadotropic hypogonadism 1 with or without anosmia
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- May 1, 2013
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000128830.1
Allele description [Variation Report for NM_000216.4(ANOS1):c.1A>G (p.Met1Val)]
NM_000216.4(ANOS1):c.1A>G (p.Met1Val)
Condition(s)
- Name:
- Hypogonadotropic hypogonadism 1 with or without anosmia (HH1)
- Synonyms:
- Kallmann syndrome 1; Kallmann syndrome, X-linked; Kallmann syndrome, type 1, X-linked; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010635; MedGen: C1563719; Orphanet: 478; OMIM: 308700
-
2.5.1.65[EC/RN Number] (3741)
Protein
-
DC007051 Osada Taira anterior endomesoderm (AEM) pCS105 cDNA library Xenopus lae...
DC007051 Osada Taira anterior endomesoderm (AEM) pCS105 cDNA library Xenopus laevis cDNA clone rxlk113k13ex 3', mRNA sequencegi|118991493|gnl|dbEST|43292016|dbj 7051.1|Nucleotide
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Last Updated: May 19, 2024