ClinVar

NM_002834.5(PTPN11):c.179G>A (p.Gly60Asp)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

12q24.13

Genomic location:

• Chr12: 112450359 (on Assembly GRCh38)
• Chr12: 112888163 (on Assembly GRCh37)

Preferred name:

NM_002834.5(PTPN11):c.179G>A (p.Gly60Asp)

HGVS:

• NC_000012.12:g.112450359G>A
• NG_007459.1:g.36628G>A
• NM_001330437.2:c.179G>A
• NM_001374625.1:c.176G>A
• NM_002834.5:c.179G>AMANE SELECT
• NM_080601.3:c.179G>A
• NP_001317366.1:p.Gly60Asp
• NP_001361554.1:p.Gly59Asp
• NP_002825.3:p.Gly60Asp
• NP_542168.1:p.Gly60Asp
• LRG_614:g.36628G>A
• NC_000012.11:g.112888163G>A
• NM_002834.4:c.179G>A
• p.(Gly60Asp)

This HGVS expression did not pass validation

Protein change:

G59D

Links:

dbSNP: rs397507509

NCBI 1000 Genomes Browser:

rs397507509

Molecular consequence:

• NM_001330437.2:c.179G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374625.1:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_002834.5:c.179G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_080601.3:c.179G>A - missense variant - [Sequence Ontology: SO:0001583]