ClinVar

NM_002834.5(PTPN11):c.227A>C (p.Glu76Ala)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

12q24.13

Genomic location:

• Chr12: 112450407 (on Assembly GRCh38)
• Chr12: 112888211 (on Assembly GRCh37)

Preferred name:

NM_002834.5(PTPN11):c.227A>C (p.Glu76Ala)

Other names:

p.E76A:GAG>GCG

HGVS:

• NC_000012.12:g.112450407A>C
• NG_007459.1:g.36676A>C
• NM_001330437.2:c.227A>C
• NM_001374625.1:c.224A>C
• NM_002834.5:c.227A>CMANE SELECT
• NM_080601.3:c.227A>C
• NP_001317366.1:p.Glu76Ala
• NP_001361554.1:p.Glu75Ala
• NP_002825.3:p.Glu76Ala
• NP_542168.1:p.Glu76Ala
• LRG_614t1:c.227A>C
• LRG_614:g.36676A>C
• NC_000012.11:g.112888211A>C
• NM_002834.3:c.227A>C
• Q06124:p.Glu76Ala

This HGVS expression did not pass validation

Protein change:

E75A; GLU76ALA

Links:

UniProtKB: Q06124#VAR_015998; OMIM: 176876.0017; dbSNP: rs121918465

NCBI 1000 Genomes Browser:

rs121918465

Molecular consequence:

• NM_001330437.2:c.227A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374625.1:c.224A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_002834.5:c.227A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_080601.3:c.227A>C - missense variant - [Sequence Ontology: SO:0001583]