NM_004415.4(DSP):c.5972T>C (p.Leu1991Ser) AND Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 26, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004009574.2
Allele description [Variation Report for NM_004415.4(DSP):c.5972T>C (p.Leu1991Ser)]
NM_004415.4(DSP):c.5972T>C (p.Leu1991Ser)
Condition(s)
- Name:
- Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
- Synonyms:
- Palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair; Epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy; Dilated cardiomyopathy with woolly hair and keratoderma; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011581; MedGen: C1854063; Orphanet: 65282; OMIM: 605676
-
polycomb protein Suz12 isoform 1 [Mus musculus]
polycomb protein Suz12 isoform 1 [Mus musculus]gi|40353214|ref|NP_954666.1|Protein
-
uncharacterized protein LOC103499390 [Cucumis melo]
uncharacterized protein LOC103499390 [Cucumis melo]gi|659121346|ref|XP_008460612.1|Protein
-
inactive protein kinase SELMODRAFT_444075-like isoform X1 [Cucurbita moschata]
inactive protein kinase SELMODRAFT_444075-like isoform X1 [Cucurbita moschata]gi|1279767513|ref|XP_022936305.1|Protein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024