NM_020458.4(TTC7A):c.192del (p.Phe64fs) AND Multiple gastrointestinal atresias
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Sep 7, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001383525.5
Allele description [Variation Report for NM_020458.4(TTC7A):c.192del (p.Phe64fs)]
NM_020458.4(TTC7A):c.192del (p.Phe64fs)
Condition(s)
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RNA-seq of Paracyprichromis brieni adult female retina
RNA-seq of Paracyprichromis brieni adult female retinabiosample
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Macadamia tetraphylla waxy 1 gene, exons 7 through 10 and partial cds
Macadamia tetraphylla waxy 1 gene, exons 7 through 10 and partial cdsgi|199611876|gb|EU649769.1|Nucleotide
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Brabejum stellatifolium waxy 1 gene, exons 7 through 10 and partial cds
Brabejum stellatifolium waxy 1 gene, exons 7 through 10 and partial cdsgi|199611880|gb|EU649771.1|Nucleotide
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PREDICTED: Homo sapiens nuclear receptor binding SET domain protein 2 (NSD2), tr...
PREDICTED: Homo sapiens nuclear receptor binding SET domain protein 2 (NSD2), transcript variant X11, mRNAgi|2217351953|ref|XM_011513560.3|Nucleotide
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vectors nucleoprotein, phosphoprotein, EGFP, matrix protein, fusion protein, hem...
vectors nucleoprotein, phosphoprotein, EGFP, matrix protein, fusion protein, hemagglutinin, and large protein genes, complete cds.PopSet: 1238818862PopSet
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024