NM_001161498.2(PLEKHD1):c.662T>C (p.Leu221Pro) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 26, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004130143.1
Allele description [Variation Report for NM_001161498.2(PLEKHD1):c.662T>C (p.Leu221Pro)]
NM_001161498.2(PLEKHD1):c.662T>C (p.Leu221Pro)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
Homo sapiens ALG10 alpha-1,2-glucosyltransferase (ALG10), mRNA
Homo sapiens ALG10 alpha-1,2-glucosyltransferase (ALG10), mRNAgi|1519242231|ref|NM_032834.4|Nucleotide
-
5,6-dihydroxyindole-2-carboxylic acid oxidase isoform X1 [Homo sapiens]
5,6-dihydroxyindole-2-carboxylic acid oxidase isoform X1 [Homo sapiens]gi|2462626305|ref|XP_054219718.1|Protein
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Last Updated: Aug 25, 2024