NM_000431.4(MVK):c.598C>T (p.Pro200Ser) AND Mevalonic aciduria
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 14, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000350980.5
Allele description [Variation Report for NM_000431.4(MVK):c.598C>T (p.Pro200Ser)]
NM_000431.4(MVK):c.598C>T (p.Pro200Ser)
Condition(s)
-
NADH dehydrogenase subunit 1 (mitochondrion) [Physeter catodon]
NADH dehydrogenase subunit 1 (mitochondrion) [Physeter catodon]gi|1078193238|gb|AOV84121.1|Protein
-
Gene Links for GEO Profiles (Select 72031606) (1)
Gene
-
SEZ6 seizure related 6 homolog [Homo sapiens]
SEZ6 seizure related 6 homolog [Homo sapiens]Gene ID:124925Gene
-
Profile neighbors for GEO Profiles (Select 123659940) (200)
GEO Profiles
-
Profile neighbors for GEO Profiles (Select 72029410) (82)
GEO Profiles
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See more...Assertion and evidence details
Last Updated: Apr 9, 2023