NM_006846.4(SPINK5):c.1437A>T (p.Gln479His) AND Ichthyosis linearis circumflexa
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 3, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003857711.1
Allele description [Variation Report for NM_006846.4(SPINK5):c.1437A>T (p.Gln479His)]
NM_006846.4(SPINK5):c.1437A>T (p.Gln479His)
Condition(s)
- Name:
- Ichthyosis linearis circumflexa
- Identifiers:
- MONDO: MONDO:0043106; MedGen: C0265962
Assertion and evidence details
Last Updated: Mar 5, 2024