ClinVar

NM_002834.5(PTPN11):c.272A>G (p.Lys91Arg)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

12q24.13

Genomic location:

• Chr12: 112450452 (on Assembly GRCh38)
• Chr12: 112888256 (on Assembly GRCh37)

Preferred name:

NM_002834.5(PTPN11):c.272A>G (p.Lys91Arg)

HGVS:

• NC_000012.12:g.112450452A>G
• NG_007459.1:g.36721A>G
• NM_001330437.2:c.272A>G
• NM_001374625.1:c.269A>G
• NM_002834.5:c.272A>GMANE SELECT
• NM_080601.3:c.272A>G
• NP_001317366.1:p.Lys91Arg
• NP_001361554.1:p.Lys90Arg
• NP_002825.3:p.Lys91Arg
• NP_542168.1:p.Lys91Arg
• LRG_614t1:c.272A>G
• LRG_614:g.36721A>G
• NC_000012.11:g.112888256A>G
• NM_002834.3:c.272A>G

This HGVS expression did not pass validation

Protein change:

K90R

Links:

dbSNP: rs869312744

NCBI 1000 Genomes Browser:

rs869312744

Molecular consequence:

• NM_001330437.2:c.272A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374625.1:c.269A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_002834.5:c.272A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_080601.3:c.272A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1