ClinVar

NM_002834.5(PTPN11):c.205G>A (p.Glu69Lys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

12q24.13

Genomic location:

• Chr12: 112450385 (on Assembly GRCh38)
• Chr12: 112888189 (on Assembly GRCh37)

Preferred name:

NM_002834.5(PTPN11):c.205G>A (p.Glu69Lys)

HGVS:

• NC_000012.12:g.112450385G>A
• NG_007459.1:g.36654G>A
• NM_001330437.2:c.205G>A
• NM_001374625.1:c.202G>A
• NM_002834.5:c.205G>AMANE SELECT
• NM_080601.3:c.205G>A
• NP_001317366.1:p.Glu69Lys
• NP_001317366.1:p.Glu69Lys
• NP_001361554.1:p.Glu68Lys
• NP_002825.3:p.Glu69Lys
• NP_542168.1:p.Glu69Lys
• LRG_614t1:c.205G>A
• LRG_614:g.36654G>A
• NC_000012.11:g.112888189G>A
• NM_001330437.1:c.205G>A
• NM_002834.3:c.205G>A
• Q06124:p.Glu69Lys

This HGVS expression did not pass validation

Protein change:

E68K

Links:

UniProtKB: Q06124#VAR_015993; dbSNP: rs397507511

NCBI 1000 Genomes Browser:

rs397507511

Molecular consequence:

• NM_001330437.2:c.205G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374625.1:c.202G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_002834.5:c.205G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_080601.3:c.205G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1