NM_004415.4(DSP):c.3923G>A (p.Arg1308Gln) AND Woolly hair-skin fragility syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 14, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000262391.5
Allele description [Variation Report for NM_004415.4(DSP):c.3923G>A (p.Arg1308Gln)]
NM_004415.4(DSP):c.3923G>A (p.Arg1308Gln)
Condition(s)
-
Transducin/WD40 repeat-like superfamily protein [Arabidopsis thaliana]
Transducin/WD40 repeat-like superfamily protein [Arabidopsis thaliana]gi|18410015|ref|NP_566994.1|Protein
-
cytochrome c oxidase subunit II (mitochondrion) [Echinops telfairi]
cytochrome c oxidase subunit II (mitochondrion) [Echinops telfairi]gi|11994080|gnl|NCBI_MITO|COX2_1556 |NP_072060.1|COX2_15563Protein
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See more...Assertion and evidence details
Last Updated: Oct 8, 2024