NM_021615.5(CHST6):c.799C>T (p.Arg267Cys) AND Macular corneal dystrophy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 17, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002009424.4
Allele description [Variation Report for NM_021615.5(CHST6):c.799C>T (p.Arg267Cys)]
NM_021615.5(CHST6):c.799C>T (p.Arg267Cys)
Condition(s)
-
Human aldehyde dehydrogenase mRNA, complete cds
Human aldehyde dehydrogenase mRNA, complete cdsgi|178374|gb|M77477.1|HUMALDDENucleotide
-
"Premature loss of teeth"[Clinical Features] OR 66678[uid] (24)
MedGen
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024