NM_000479.5(AMH):c.1683A>T (p.Ter561Cys) AND Persistent Mullerian duct syndrome
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Mar 26, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003990543.2
Allele description [Variation Report for NM_000479.5(AMH):c.1683A>T (p.Ter561Cys)]
NM_000479.5(AMH):c.1683A>T (p.Ter561Cys)
Condition(s)
- Name:
- Persistent Mullerian duct syndrome (PMDS)
- Synonyms:
- PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II; Female genital ducts in otherwise normal male; Persistent mullerian duct syndrome, types 1 and 2; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009857; MedGen: C1849930; Orphanet: 2856; OMIM: 261550
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DA384049 BRTHA2 Homo sapiens cDNA clone BRTHA2018567 5', mRNA sequence
DA384049 BRTHA2 Homo sapiens cDNA clone BRTHA2018567 5', mRNA sequencegi|81188115|gnl|dbEST|33506114|dbj| 049.1|Nucleotide
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Homologene neighbors for GEO Profiles (Select 100650158) (0)
GEO Profiles
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Homologene neighbors for GEO Profiles (Select 100634686) (0)
GEO Profiles
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Profile neighbors for GEO Profiles (Select 100652863) (93)
GEO Profiles
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Profile neighbors for GEO Profiles (Select 100656177) (4)
GEO Profiles
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Last Updated: Aug 4, 2024