NM_001321120.2(TBX4):c.402-8G>A AND Coxopodopatellar syndrome
- Germline classification:
- Benign (2 submissions)
- Last evaluated:
- Jul 15, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000393613.7
Allele description [Variation Report for NM_001321120.2(TBX4):c.402-8G>A]
NM_001321120.2(TBX4):c.402-8G>A
Condition(s)
- Name:
- Coxopodopatellar syndrome
- Synonyms:
- Ischiopatellar dysplasia; Scott-Taor syndrome; ISCHIOCOXOPODOPATELLAR SYNDROME; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007841; MedGen: C1840061; Orphanet: 1509; OMIM: 147891
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Saccharomyces cerevisiae S288C alpha,alpha-trehalase NTH1 (NTH1), partial mRNA
Saccharomyces cerevisiae S288C alpha,alpha-trehalase NTH1 (NTH1), partial mRNAgi|296143356|ref|NM_001180309.1|Nucleotide
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Enterobacteria phage vB_EcoS_ACG-M12, complete genome
Enterobacteria phage vB_EcoS_ACG-M12, complete genomegi|383396064|gb|JN986845.1|Nucleotide
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Parupeneus multifasciatus mitochondrial DNA, complete genome
Parupeneus multifasciatus mitochondrial DNA, complete genomegi|635599626|dbj|AP012314.1|Nucleotide
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Influenza A virus (A/New York/2876/2010(H1N1)) segment 2, complete sequence
Influenza A virus (A/New York/2876/2010(H1N1)) segment 2, complete sequencegi|295243664|gnl|NIGSP|NIGSP_SGS_00 B1|gb|CY062136.1|Nucleotide
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cg3272 [Corynebacterium glutamicum ATCC 13032]
cg3272 [Corynebacterium glutamicum ATCC 13032]Gene ID:3344936Gene
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See more...Assertion and evidence details
Last Updated: Mar 10, 2024