NM_007317.3(KIF22):c.1385G>A (p.Ser462Asn) AND Spondyloepimetaphyseal dysplasia with multiple dislocations
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 15, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003133581.3
Allele description [Variation Report for NM_007317.3(KIF22):c.1385G>A (p.Ser462Asn)]
NM_007317.3(KIF22):c.1385G>A (p.Ser462Asn)
Condition(s)
- Name:
- Spondyloepimetaphyseal dysplasia with multiple dislocations
- Synonyms:
- Spondyloepimetaphyseal dysplasia with multiple dislocations leptodactylic type; Spondyloepimetaphyseal dysplasia with multiple dislocations Hall type; SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, HALL TYPE; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011335; MedGen: C1863732; Orphanet: 93360; OMIM: 603546
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ribosomal protein L18 (chloroplast) [Silvetia siliquosa]
ribosomal protein L18 (chloroplast) [Silvetia siliquosa]gi|2214679115|ref|YP_010317828.1|Protein
-
ribosomal protein L23 (chloroplast) [Silvetia siliquosa]
ribosomal protein L23 (chloroplast) [Silvetia siliquosa]gi|2214679128|ref|YP_010317841.1|Protein
-
ribosomal protein L4 (chloroplast) [Silvetia siliquosa]
ribosomal protein L4 (chloroplast) [Silvetia siliquosa]gi|2214679129|ref|YP_010317842.1|Protein
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SAMN07498976 (1)
SRA
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Mus musculus adult male hypothalamus cDNA, RIKEN full-length enriched library, c...
Mus musculus adult male hypothalamus cDNA, RIKEN full-length enriched library, clone:A230009I19 product:hypothetical protein, full insert sequencegi|26086528|dbj|AK038431.1|Nucleotide
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Last Updated: Mar 16, 2024