NM_002834.5(PTPN11):c.1471C>T (p.Pro491Ser) AND Noonan syndrome and Noonan-related syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jan 14, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001813257.10
Allele description [Variation Report for NM_002834.5(PTPN11):c.1471C>T (p.Pro491Ser)]
NM_002834.5(PTPN11):c.1471C>T (p.Pro491Ser)
Condition(s)
-
Tu translation elongation factor, mitochondrial [Homo sapiens]
Tu translation elongation factor, mitochondrial [Homo sapiens]gi|32425705|gb|AAH01633.2|Protein
-
AL965330 XGC-gastrula Xenopus tropicalis cDNA clone TGas130l19 5', mRNA sequence
AL965330 XGC-gastrula Xenopus tropicalis cDNA clone TGas130l19 5', mRNA sequencegi|39018430|gnl|dbEST|20753472|emb| 330.2|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Oct 13, 2024