NM_002834.5(PTPN11):c.1261C>T (p.Arg421Trp) AND RASopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 16, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001343021.6
Allele description [Variation Report for NM_002834.5(PTPN11):c.1261C>T (p.Arg421Trp)]
NM_002834.5(PTPN11):c.1261C>T (p.Arg421Trp)
Condition(s)
- Name:
- RASopathy
- Synonyms:
- rasopathies; Noonan spectrum disorder
- Identifiers:
- MONDO: MONDO:0021060; MedGen: C5555857
-
tissue-type plasminogen activator [Electrophorus electricus]
tissue-type plasminogen activator [Electrophorus electricus]gi|1870444486|ref|XP_026877978.2|Protein
-
DNA topoisomerase I [Fistulifera solaris]
DNA topoisomerase I [Fistulifera solaris]gi|1210522534|dbj|GAX18547.1||gnl|W SP|GAX18547Protein
-
Porella arboris-vitae voucher Zuendorf 21671 (JE) 18S ribosomal RNA gene, partia...
Porella arboris-vitae voucher Zuendorf 21671 (JE) 18S ribosomal RNA gene, partial sequence; internal transcribed spacer 1, 5.8S ribosomal RNA gene, and internal transcribed spacer 2, complete sequence; and 26S ribosomal RNA gene, partial sequencegi|156466263|gb|EF545552.1|Nucleotide
-
Tceal3 transcription elongation factor A (SII)-like 3 [Mus musculus]
Tceal3 transcription elongation factor A (SII)-like 3 [Mus musculus]Gene ID:594844Gene
-
594844[uid] AND (alive[prop]) (1)
Gene
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Last Updated: May 1, 2024