NM_000423.3(KRT2):c.1459G>A (p.Glu487Lys) AND Exfoliative ichthyosis
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Apr 1, 1999
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000009895.3
Allele description [Variation Report for NM_000423.3(KRT2):c.1459G>A (p.Glu487Lys)]
NM_000423.3(KRT2):c.1459G>A (p.Glu487Lys)
Condition(s)
- Name:
- Exfoliative ichthyosis
- Synonyms:
- Ichthyosis exfoliativa
- Identifiers:
- MONDO: MONDO:0017339; MedGen: C1838440
-
cytochrome b, partial (mitochondrion) [Rhamdia eurycephala]
cytochrome b, partial (mitochondrion) [Rhamdia eurycephala]gi|1861717910|gb|QKY67327.1|Protein
-
shikimate kinase [Haloarcula sp. H-GB4]
shikimate kinase [Haloarcula sp. H-GB4]gi|2569274444|ref|WP_306707489.1|Protein
-
hypothetical protein [Haloarcula sp. H-GB4]
hypothetical protein [Haloarcula sp. H-GB4]gi|2569274453|ref|WP_306707495.1|Protein
-
qm64a03.x1 Soares_placenta_8to9weeks_2NbHP8to9W Homo sapiens cDNA clone IMAGE:18...
qm64a03.x1 Soares_placenta_8to9weeks_2NbHP8to9W Homo sapiens cDNA clone IMAGE:1893484 3', mRNA sequencegi|3899690|gnl|dbEST|2050755|gb|AI2 .1|Nucleotide
-
UI-H-BI4-apa-b-08-0-UI.s1 NCI_CGAP_Sub8 Homo sapiens cDNA clone IMAGE:3086558 3'...
UI-H-BI4-apa-b-08-0-UI.s1 NCI_CGAP_Sub8 Homo sapiens cDNA clone IMAGE:3086558 3', mRNA sequencegi|11593791|gnl|dbEST|7037858|gb|BF 3.1|Nucleotide
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Last Updated: Sep 29, 2024