NM_001284240.2(CCSER2):c.1406T>C (p.Ile469Thr) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 28, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004072861.1
Allele description [Variation Report for NM_001284240.2(CCSER2):c.1406T>C (p.Ile469Thr)]
NM_001284240.2(CCSER2):c.1406T>C (p.Ile469Thr)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
PREDICTED: Homo sapiens thiamin pyrophosphokinase 1 (TPK1), transcript variant X...
PREDICTED: Homo sapiens thiamin pyrophosphokinase 1 (TPK1), transcript variant X29, mRNAgi|2462613656|ref|XM_054357880.1|Nucleotide
-
PREDICTED: Homo sapiens thiamin pyrophosphokinase 1 (TPK1), transcript variant X...
PREDICTED: Homo sapiens thiamin pyrophosphokinase 1 (TPK1), transcript variant X13, mRNAgi|2217366540|ref|XM_011516034.3|Nucleotide
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Last Updated: Oct 13, 2024