NM_021615.5(CHST6):c.718C>A (p.Arg240Ser) AND Macular corneal dystrophy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000267043.5
Allele description [Variation Report for NM_021615.5(CHST6):c.718C>A (p.Arg240Ser)]
NM_021615.5(CHST6):c.718C>A (p.Arg240Ser)
Condition(s)
-
RC5-NN1065-180400-031-A02 NN1065 Homo sapiens cDNA, mRNA sequence
RC5-NN1065-180400-031-A02 NN1065 Homo sapiens cDNA, mRNA sequencegi|8069054|gnl|dbEST|4391581|gb|AW9 .1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Dec 24, 2023