NM_004004.6(GJB2):c.528C>A (p.Asn176Lys) AND not provided
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 23, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002464849.1
Allele description [Variation Report for NM_004004.6(GJB2):c.528C>A (p.Asn176Lys)]
NM_004004.6(GJB2):c.528C>A (p.Asn176Lys)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: CN517202
-
Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type IMedGen
-
C0432233[conceptid] (1)
MedGen
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See more...Assertion and evidence details
Last Updated: Dec 17, 2022