NM_005560.6(LAMA5):c.4501C>G (p.Pro1501Ala) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 16, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004407356.1
Allele description [Variation Report for NM_005560.6(LAMA5):c.4501C>G (p.Pro1501Ala)]
NM_005560.6(LAMA5):c.4501C>G (p.Pro1501Ala)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
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BTB/POZ domain-containing protein KCTD21 isoform X1 [Homo sapiens]
BTB/POZ domain-containing protein KCTD21 isoform X1 [Homo sapiens]gi|578821333|ref|XP_006718581.1|Protein
-
RecName: Full=NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 6; AltN...
RecName: Full=NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 6; AltName: Full=Complex I-B14; Short=CI-B14; AltName: Full=LYR motif-containing protein 6; AltName: Full=NADH-ubiquinone oxidoreductase B14 subunitgi|1407720864|sp|P56556.4|NDUA6_HUMProtein
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See more...Assertion and evidence details
Last Updated: May 7, 2024