NM_001264.5(CDSN):c.424G>T (p.Gly142Ter) AND Peeling skin syndrome 1
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Dec 1, 2013
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000144909.4
Allele description [Variation Report for NM_001264.5(CDSN):c.424G>T (p.Gly142Ter)]
NM_001264.5(CDSN):c.424G>T (p.Gly142Ter)
Condition(s)
- Name:
- Peeling skin syndrome 1 (PSS1)
- Synonyms:
- KERATOLYSIS EXFOLIATIVA CONGENITA; SKIN PEELING, FAMILIAL CONTINUOUS GENERALIZED; Peeling skin syndrome, noninflammatory type A (subtype); See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0024548; MedGen: C1849193; Orphanet: 263543; Orphanet: 263553; OMIM: 270300
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JGI_XZT35180.fwd NIH_XGC_tropTad5 Xenopus tropicalis cDNA clone IMAGE:7611302 5'...
JGI_XZT35180.fwd NIH_XGC_tropTad5 Xenopus tropicalis cDNA clone IMAGE:7611302 5', mRNA sequencegi|74090445|gnl|dbEST|31255819|gb|C 05.2|Nucleotide
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cm19d01.w1 Blackshear/Soares normalized Xenopus egg library Xenopus laevis cDNA ...
cm19d01.w1 Blackshear/Soares normalized Xenopus egg library Xenopus laevis cDNA clone PBX0118D01 5', mRNA sequencegi|7399794|gnl|dbEST|4079017|gb|AW6 .1|Nucleotide
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DC010095 Osada Taira anterior endomesoderm (AEM) pCS105 cDNA library Xenopus lae...
DC010095 Osada Taira anterior endomesoderm (AEM) pCS105 cDNA library Xenopus laevis cDNA clone rxlk123k23ex 3', mRNA sequencegi|118971587|gnl|dbEST|43272115|dbj 0095.1|Nucleotide
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Last Updated: Sep 1, 2024