ClinVar

NM_002834.5(PTPN11):c.1678C>T (p.Leu560Phe)

Gene:

PTPN11:protein tyrosine phosphatase non-receptor type 11 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q24.13

Genomic location:

• Chr12: 112502222 (on Assembly GRCh38)
• Chr12: 112940026 (on Assembly GRCh37)

Preferred name:

NM_002834.5(PTPN11):c.1678C>T (p.Leu560Phe)

Other names:

p.L560F:CTC>TTC; NM_002834.4(PTPN11):c.1678C>T

HGVS:

• NC_000012.12:g.112502222C>T
• NG_007459.1:g.88491C>T
• NM_001330437.2:c.1690C>T
• NM_001374625.1:c.1675C>T
• NM_002834.5:c.1678C>TMANE SELECT
• NP_001317366.1:p.Leu564Phe
• NP_001361554.1:p.Leu559Phe
• NP_002825.3:p.Leu560Phe
• LRG_614t1:c.1678C>T
• LRG_614:g.88491C>T
• NC_000012.11:g.112940026C>T
• NM_002834.3:c.1678C>T
• NM_002834.4:c.1678C>T
• c.1678C>T

This HGVS expression did not pass validation

Protein change:

L559F

Links:

dbSNP: rs397516797

Molecular consequence:

• NM_001330437.2:c.1690C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374625.1:c.1675C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_002834.5:c.1678C>T - missense variant - [Sequence Ontology: SO:0001583]