NM_005633.4(SOS1):c.1649T>C (p.Leu550Pro) AND Noonan syndrome 4
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- Oct 19, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002467515.2
Allele description [Variation Report for NM_005633.4(SOS1):c.1649T>C (p.Leu550Pro)]
NM_005633.4(SOS1):c.1649T>C (p.Leu550Pro)
Condition(s)
-
hypothetical protein SPRG_06356 [Saprolegnia parasitica CBS 223.65]
hypothetical protein SPRG_06356 [Saprolegnia parasitica CBS 223.65]gi|813150957|ref|XP_012201125.1||gn _WGS:ADCG|SPRG_06356T0Protein
-
histone-lysine n-methyltransferase setd1a [Nannochloropsis gaditana]
histone-lysine n-methyltransferase setd1a [Nannochloropsis gaditana]gi|585107787|gb|EWM25918.1||gnl|WGS |Naga_100048g27.10290Protein
-
b3gnt5b UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5b [Danio re...
b3gnt5b UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5b [Danio rerio]Gene ID:791470Gene
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See more...Assertion and evidence details
Last Updated: Oct 8, 2024