NM_000493.4(COL10A1):c.1990_1991del (p.Ser664fs) AND not provided
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Dec 19, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003689893.2
Allele description [Variation Report for NM_000493.4(COL10A1):c.1990_1991del (p.Ser664fs)]
NM_000493.4(COL10A1):c.1990_1991del (p.Ser664fs)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
LOW QUALITY PROTEIN: endoplasmin-like [Echinops telfairi]
LOW QUALITY PROTEIN: endoplasmin-like [Echinops telfairi]gi|2160801779|ref|XP_045152329.1|Protein
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Last Updated: Sep 29, 2024