NM_000094.4(COL7A1):c.4490G>T (p.Arg1497Leu) AND COL7A1-related disorder
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 29, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003393113.4
Allele description [Variation Report for NM_000094.4(COL7A1):c.4490G>T (p.Arg1497Leu)]
NM_000094.4(COL7A1):c.4490G>T (p.Arg1497Leu)
Condition(s)
- Name:
- COL7A1-related disorder
- Synonyms:
- COL7A1-related condition; COL7A1- related disorders
- Identifiers:
-
DGKB [Neogale vison]
DGKB [Neogale vison]Gene ID:122904869Gene
-
AGA [Myotis brandtii]
AGA [Myotis brandtii]Gene ID:102253028Gene
-
LOC114541446 [Dendronephthya gigantea]
LOC114541446 [Dendronephthya gigantea]Gene ID:114541446Gene
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Last Updated: May 12, 2024