NM_001371623.1(TCOF1):c.1216C>T (p.Arg406Trp) AND Treacher Collins syndrome 1
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 4, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002966087.2
Allele description [Variation Report for NM_001371623.1(TCOF1):c.1216C>T (p.Arg406Trp)]
NM_001371623.1(TCOF1):c.1216C>T (p.Arg406Trp)
Condition(s)
-
Taxonomy Links for Protein (Select 2462610537) (1)
Taxonomy
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AL578487 Homo sapiens HELA CELLS COT 25-NORMALIZED Homo sapiens cDNA clone CS0DK...
AL578487 Homo sapiens HELA CELLS COT 25-NORMALIZED Homo sapiens cDNA clone CS0DK011YM02 3-PRIME, mRNA sequencegi|46257375|gnl|dbEST|22336187|emb| 487.3|Nucleotide
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Homo sapiens guanine deaminase, mRNA (cDNA clone MGC:61486 IMAGE:5186337), compl...
Homo sapiens guanine deaminase, mRNA (cDNA clone MGC:61486 IMAGE:5186337), complete cdsgi|31566379|gb|BC053584.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Aug 4, 2024