NM_012096.3(APPL1):c.1933G>C (p.Val645Leu) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 12, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004153395.1
Allele description [Variation Report for NM_012096.3(APPL1):c.1933G>C (p.Val645Leu)]
NM_012096.3(APPL1):c.1933G>C (p.Val645Leu)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
PREDICTED: Xenopus laevis nuclear factor I/X (CCAAT-binding transcription factor...
PREDICTED: Xenopus laevis nuclear factor I/X (CCAAT-binding transcription factor) L homeolog (nfix.L), transcript variant X1, mRNAgi|2038159170|ref|XM_041587576.1|Nucleotide
-
solute carrier family 12 member 7 isoform X9 [Homo sapiens]
solute carrier family 12 member 7 isoform X9 [Homo sapiens]gi|2462600175|ref|XP_054207427.1|Protein
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Last Updated: Oct 13, 2024