NM_005378.6(MYCN):c.1211T>G (p.Leu404Arg) AND Feingold syndrome type 1
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Feb 1, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003237315.1
Allele description [Variation Report for NM_005378.6(MYCN):c.1211T>G (p.Leu404Arg)]
NM_005378.6(MYCN):c.1211T>G (p.Leu404Arg)
Condition(s)
- Name:
- Feingold syndrome type 1 (FGLDS1)
- Synonyms:
- MICROCEPHALY, MENTAL RETARDATION, AND TRACHEOESOPHAGEAL FISTULA SYNDROME; Oculodigitoesophagoduodenal syndrome; Microcephaly-oculo-digito-esophageal-duodenal syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008115; MedGen: C4551774; Orphanet: 1305; Orphanet: 391641; OMIM: 164280
-
NADH dehydrogenase subunit 2 (mitochondrion) [Falconius longicornis]
NADH dehydrogenase subunit 2 (mitochondrion) [Falconius longicornis]gi|1938966128|gb|QPK42053.1|Protein
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See more...Assertion and evidence details
Last Updated: Apr 6, 2024