NM_015046.7(SETX):c.3728A>G (p.Lys1243Arg) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 27, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000534859.6
Allele description [Variation Report for NM_015046.7(SETX):c.3728A>G (p.Lys1243Arg)]
NM_015046.7(SETX):c.3728A>G (p.Lys1243Arg)
Condition(s)
-
UI-E-CI1-afq-d-22-0-UI.r1 UI-E-CI1 Homo sapiens cDNA clone UI-E-CI1-afq-d-22-0-U...
UI-E-CI1-afq-d-22-0-UI.r1 UI-E-CI1 Homo sapiens cDNA clone UI-E-CI1-afq-d-22-0-UI 5', mRNA sequencegi|19007767|gnl|dbEST|11275442|gb|B 09.1|Nucleotide
-
Human beige protein homolog (chs) mRNA, complete cds
Human beige protein homolog (chs) mRNA, complete cdsgi|1685033|gb|U67615.1|HSU67615Nucleotide
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Last Updated: Mar 5, 2024