ClinVar

NM_002834.5(PTPN11):c.281A>T (p.Asp94Val)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

12q24.13

Genomic location:

• Chr12: 112450461 (on Assembly GRCh38)
• Chr12: 112888265 (on Assembly GRCh37)

Preferred name:

NM_002834.5(PTPN11):c.281A>T (p.Asp94Val)

HGVS:

• NC_000012.12:g.112450461A>T
• NG_007459.1:g.36730A>T
• NM_001330437.2:c.281A>T
• NM_001374625.1:c.278A>T
• NM_002834.5:c.281A>TMANE SELECT
• NM_080601.3:c.281A>T
• NP_001317366.1:p.Asp94Val
• NP_001361554.1:p.Asp93Val
• NP_002825.3:p.Asp94Val
• NP_542168.1:p.Asp94Val
• LRG_614t1:c.281A>T
• LRG_614:g.36730A>T
• NC_000012.11:g.112888265A>T
• NM_002834.3:c.281A>T

This HGVS expression did not pass validation

Protein change:

D93V

Links:

dbSNP: rs2135862786

NCBI 1000 Genomes Browser:

rs2135862786

Molecular consequence:

• NM_001330437.2:c.281A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374625.1:c.278A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_002834.5:c.281A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_080601.3:c.281A>T - missense variant - [Sequence Ontology: SO:0001583]