NM_000277.3(PAH):c.241_256del (p.Thr81fs) AND not provided
- Germline classification:
- not provided (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000088882.1
Allele description [Variation Report for NM_000277.3(PAH):c.241_256del (p.Thr81fs)]
NM_000277.3(PAH):c.241_256del (p.Thr81fs)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
Rothmund-Thomson syndrome type 2
Rothmund-Thomson syndrome type 2MedGen
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See more...Assertion and evidence details
Last Updated: Jun 23, 2024