NM_138927.4(SON):c.4783T>C (p.Ser1595Pro) AND ZTTK syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 24, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002482440.1
Allele description [Variation Report for NM_138927.4(SON):c.4783T>C (p.Ser1595Pro)]
NM_138927.4(SON):c.4783T>C (p.Ser1595Pro)
Condition(s)
-
Homologene neighbors for GEO Profiles (Select 106816518) (0)
GEO Profiles
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Homologene neighbors for GEO Profiles (Select 344130) (0)
GEO Profiles
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PREDICTED: Homo sapiens piwi like RNA-mediated gene silencing 1 (PIWIL1), transc...
PREDICTED: Homo sapiens piwi like RNA-mediated gene silencing 1 (PIWIL1), transcript variant X7, mRNAgi|2217292078|ref|XM_011539006.4|Nucleotide
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Last Updated: Feb 20, 2024