NM_017934.7(PHIP):c.5180C>T (p.Ala1727Val) AND PHIP-related disorder
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 20, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004736349.1
Allele description [Variation Report for NM_017934.7(PHIP):c.5180C>T (p.Ala1727Val)]
NM_017934.7(PHIP):c.5180C>T (p.Ala1727Val)
Condition(s)
- Name:
- PHIP-related disorder
- Synonyms:
- PHIP-related condition; PHIP-Related disorders
- Identifiers:
-
Mus musculus NME/NM23 nucleoside diphosphate kinase 2 (Nme2), transcript variant...
Mus musculus NME/NM23 nucleoside diphosphate kinase 2 (Nme2), transcript variant 1, mRNAgi|550544162|ref|NM_008705.5|Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 13, 2024