NM_000094.4(COL7A1):c.5471G>T (p.Gly1824Val) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 22, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003343400.2
Allele description [Variation Report for NM_000094.4(COL7A1):c.5471G>T (p.Gly1824Val)]
NM_000094.4(COL7A1):c.5471G>T (p.Gly1824Val)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
-
Divalent ion symporter [Arabidopsis thaliana]
Divalent ion symporter [Arabidopsis thaliana]gi|42561620|ref|NP_171728.2|Protein
-
Lamp3 lysosomal-associated membrane protein 3 [Rattus norvegicus]
Lamp3 lysosomal-associated membrane protein 3 [Rattus norvegicus]Gene ID:303801Gene
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Last Updated: May 1, 2024