NM_001844.5(COL2A1):c.3077G>C (p.Gly1026Ala) AND Inborn genetic diseases
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Oct 18, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000623306.2
Allele description [Variation Report for NM_001844.5(COL2A1):c.3077G>C (p.Gly1026Ala)]
NM_001844.5(COL2A1):c.3077G>C (p.Gly1026Ala)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
-
N-acetyl-beta-D-glucosaminidase [Streptococcus sp. HMSC061D10]
N-acetyl-beta-D-glucosaminidase [Streptococcus sp. HMSC061D10]gi|1080605208|gb|OFN81642.1||gnl|WG V|HMPREF2728_00650Protein
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See more...Assertion and evidence details
Last Updated: Jan 7, 2023