NM_004415.4(DSP):c.913A>T (p.Ile305Phe) AND Woolly hair-skin fragility syndrome
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000362961.13
Allele description [Variation Report for NM_004415.4(DSP):c.913A>T (p.Ile305Phe)]
NM_004415.4(DSP):c.913A>T (p.Ile305Phe)
Condition(s)
Assertion and evidence details
Last Updated: Apr 20, 2024