NM_002834.5(PTPN11):c.934-12del AND RASopathy
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Sep 18, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003654853.1
Allele description [Variation Report for NM_002834.5(PTPN11):c.934-12del]
NM_002834.5(PTPN11):c.934-12del
Condition(s)
- Name:
- RASopathy
- Synonyms:
- rasopathies; Noonan spectrum disorder
- Identifiers:
- MONDO: MONDO:0021060; MedGen: C5555857
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similar to MFS monocarboxylate transporter [Plenodomus lingam JN3]
similar to MFS monocarboxylate transporter [Plenodomus lingam JN3]gi|312210935|emb|CBX91021.1|Protein
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NADH dehydrogenase subunit 4L (mitochondrion) [Silurus meridionalis]
NADH dehydrogenase subunit 4L (mitochondrion) [Silurus meridionalis]gi|2724833571|gb|XAI68400.1|Protein
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Homo sapiens small EDRK-rich factor 2, mRNA (cDNA clone MGC:22741 IMAGE:4134511)...
Homo sapiens small EDRK-rich factor 2, mRNA (cDNA clone MGC:22741 IMAGE:4134511), complete cdsgi|18490180|gb|BC022326.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Feb 28, 2024