NM_001371623.1(TCOF1):c.3698_3702del (p.Ser1233fs) AND Treacher Collins syndrome 1
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jun 3, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001389715.2
-
Cichorieae ndhF-rpl32 intergenic spacer, partial sequence; and ribosomal protein...
Cichorieae ndhF-rpl32 intergenic spacer, partial sequence; and ribosomal protein L32 (rpl32) gene, partial cds; chloroplast.PopSet: 1050551267PopSet
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Nucleotide Links for Gene (Select 116093) (11)
Nucleotide
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nc72d11.r1 NCI_CGAP_Pr2 Homo sapiens cDNA clone IMAGE:782901, mRNA sequence
nc72d11.r1 NCI_CGAP_Pr2 Homo sapiens cDNA clone IMAGE:782901, mRNA sequencegi|2194608|gnl|dbEST|1112610|gb|AA4 .1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Dec 24, 2023