NM_002834.5(PTPN11):c.1507G>C (p.Gly503Arg) AND Neurodevelopmental disorder
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Feb 24, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001374913.2
Allele description [Variation Report for NM_002834.5(PTPN11):c.1507G>C (p.Gly503Arg)]
NM_002834.5(PTPN11):c.1507G>C (p.Gly503Arg)
Condition(s)
- Name:
- Neurodevelopmental disorder
- Identifiers:
- MONDO: MONDO:0700092; MeSH: D065886; MedGen: C1535926
-
AGENCOURT_11210942 NICHD_XGC_Tad2 Xenopus laevis cDNA clone IMAGE:6873792 5', mR...
AGENCOURT_11210942 NICHD_XGC_Tad2 Xenopus laevis cDNA clone IMAGE:6873792 5', mRNA sequencegi|29135877|gnl|dbEST|17126448|gb|C 96.2|Nucleotide
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Last Updated: Oct 13, 2024