NM_001143909.1(RPEL1):c.478G>T (p.Val160Phe) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 5, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004234479.1
Allele description [Variation Report for NM_001143909.1(RPEL1):c.478G>T (p.Val160Phe)]
NM_001143909.1(RPEL1):c.478G>T (p.Val160Phe)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
Pse1p [Saccharomyces cerevisiae S288C]
Pse1p [Saccharomyces cerevisiae S288C]gi|6323968|ref|NP_014039.1|Protein
-
hexose transporter HXT5 [Saccharomyces cerevisiae S288C]
hexose transporter HXT5 [Saccharomyces cerevisiae S288C]gi|6321888|ref|NP_011964.1|Protein
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See more...Assertion and evidence details
Last Updated: Oct 26, 2024