NM_004415.4(DSP):c.7916G>A (p.Arg2639Gln) AND Woolly hair-skin fragility syndrome
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Mar 6, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000369032.5
Allele description [Variation Report for NM_004415.4(DSP):c.7916G>A (p.Arg2639Gln)]
NM_004415.4(DSP):c.7916G>A (p.Arg2639Gln)
Condition(s)
Assertion and evidence details
Last Updated: Oct 8, 2024