ClinVar

NM_002834.5(PTPN11):c.1502G>A (p.Arg501Lys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

12q24.13

Genomic location:

• Chr12: 112489078 (on Assembly GRCh38)
• Chr12: 112926882 (on Assembly GRCh37)

Preferred name:

NM_002834.5(PTPN11):c.1502G>A (p.Arg501Lys)

Other names:

p.R501K:AGG>AAG

HGVS:

• NC_000012.12:g.112489078G>A
• NG_007459.1:g.75347G>A
• NM_001330437.2:c.1514G>A
• NM_001374625.1:c.1499G>A
• NM_002834.5:c.1502G>AMANE SELECT
• NP_001317366.1:p.Arg505Lys
• NP_001361554.1:p.Arg500Lys
• NP_002825.3:p.Arg501Lys
• NP_002825.3:p.Arg501Lys
• LRG_614t1:c.1502G>A
• LRG_614:g.75347G>A
• LRG_614p1:p.Arg501Lys
• NC_000012.11:g.112926882G>A
• NM_002834.3:c.1502G>A
• NM_002834.4:c.1502G>A
• NM_080601.1:c.*2445G>A
• c.1502G>A

This HGVS expression did not pass validation

Protein change:

R500K

Links:

dbSNP: rs397507543

NCBI 1000 Genomes Browser:

rs397507543

Molecular consequence:

• NM_001330437.2:c.1514G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374625.1:c.1499G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_002834.5:c.1502G>A - missense variant - [Sequence Ontology: SO:0001583]