NM_015506.3(MMACHC):c.609G>A (p.Trp203Ter) AND not provided
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jul 25, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000756343.12
Allele description [Variation Report for NM_015506.3(MMACHC):c.609G>A (p.Trp203Ter)]
NM_015506.3(MMACHC):c.609G>A (p.Trp203Ter)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
Methylmalonic acidemia with homocystinuria cblC
Methylmalonic acidemia with homocystinuria cblCMedGen
-
CN239025[conceptid] (1)
MedGen
-
Homologene neighbors for GEO Profiles (Select 123502776) (0)
GEO Profiles
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Homologene neighbors for GEO Profiles (Select 91669608) (0)
GEO Profiles
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Homologene neighbors for GEO Profiles (Select 91687667) (0)
GEO Profiles
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See more...Assertion and evidence details
Last Updated: Jun 23, 2024