NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys) AND Noonan syndrome 1
- Germline classification:
- Pathogenic/Likely pathogenic (5 submissions)
- Last evaluated:
- Mar 25, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000577894.20
Allele description [Variation Report for NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys)]
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys)
Condition(s)
-
Homo sapiens cDNA FLJ11708 fis, clone HEMBA1005123
Homo sapiens cDNA FLJ11708 fis, clone HEMBA1005123gi|10433021|dbj|AK021770.1|Nucleotide
-
potassium transporter 10 isoform X2 [Medicago truncatula]
potassium transporter 10 isoform X2 [Medicago truncatula]gi|1379615571|ref|XP_024633302.1|Protein
-
Homo sapiens BAC clone RP11-33N4 from 2, complete sequence
Homo sapiens BAC clone RP11-33N4 from 2, complete sequencegi|14249096|gb|AC011737.10||gnl|wug 11-33N4Nucleotide
-
Mus musculus kinesin family member 2B (Kif2b), mRNA
Mus musculus kinesin family member 2B (Kif2b), mRNAgi|1561351325|ref|NM_028547.3|Nucleotide
-
Mus musculus olfactory receptor MOR159-1 gene, complete cds
Mus musculus olfactory receptor MOR159-1 gene, complete cdsgi|18480247|gb|AY073475.1|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Oct 20, 2024