NM_006214.4(PHYH):c.733C>T (p.Arg245Trp) AND not provided
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 18, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002621584.1
Allele description
NM_006214.4(PHYH):c.733C>T (p.Arg245Trp)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: CN517202
-
myelin expression factor 2 isoform X7 [Homo sapiens]
myelin expression factor 2 isoform X7 [Homo sapiens]gi|2217301453|ref|XP_047288591.1|Protein
-
Distal symphalangism of hands
Distal symphalangism of handsMedGen
-
C1862158[conceptid] (1)
MedGen
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See more...Assertion and evidence details
Last Updated: Feb 13, 2023