NM_000094.4(COL7A1):c.5576_5577del (p.Lys1859fs) AND not provided
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Mar 17, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003727987.2
Allele description [Variation Report for NM_000094.4(COL7A1):c.5576_5577del (p.Lys1859fs)]
NM_000094.4(COL7A1):c.5576_5577del (p.Lys1859fs)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
sulfiredoxin-1 [Homo sapiens]
sulfiredoxin-1 [Homo sapiens]gi|22129778|ref|NP_542763.1|Protein
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Last Updated: Sep 29, 2024