ClinVar

NM_002834.5(PTPN11):c.227A>T (p.Glu76Val)

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>T (p.Glu76Val)

HGVS:

• NC_000012.12:g.112450407A>T
• NG_007459.1:g.36676A>T
• NM_001330437.2:c.227A>T
• NM_001374625.1:c.224A>T
• NM_002834.5:c.227A>TMANE SELECT
• NM_080601.3:c.227A>T
• NP_001317366.1:p.Glu76Val
• NP_001361554.1:p.Glu75Val
• NP_002825.3:p.Glu76Val
• NP_002825.3:p.Glu76Val
• NP_542168.1:p.Glu76Val
• LRG_614t1:c.227A>T
• LRG_614:g.36676A>T
• NC_000012.11:g.112888211A>T
• NM_002834.3:c.227A>T
• NM_002834.4:c.227A>T
• Q06124:p.Glu76Val

This HGVS expression did not pass validation

Protein change:

E75V; GLU76VAL

Links:

UniProtKB: Q06124#VAR_016001; OMIM: 176876.0015; dbSNP: rs121918465

NCBI 1000 Genomes Browser:

rs121918465

Molecular consequence:

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