ClinVar

NM_002834.5(PTPN11):c.214G>C (p.Ala72Pro)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

12q24.13

Genomic location:

• Chr12: 112450394 (on Assembly GRCh38)
• Chr12: 112888198 (on Assembly GRCh37)

Preferred name:

NM_002834.5(PTPN11):c.214G>C (p.Ala72Pro)

Other names:

p.A72P:GCC>CCC

HGVS:

• NC_000012.12:g.112450394G>C
• NG_007459.1:g.36663G>C
• NM_001330437.2:c.214G>C
• NM_001374625.1:c.211G>C
• NM_002834.4:c.214G>C
• NM_002834.5:c.214G>CMANE SELECT
• NM_080601.3:c.214G>C
• NP_001317366.1:p.Ala72Pro
• NP_001361554.1:p.Ala71Pro
• NP_002825.3:p.Ala72Pro
• NP_542168.1:p.Ala72Pro
• LRG_614t1:c.214G>C
• LRG_614:g.36663G>C
• NC_000012.11:g.112888198G>C
• NM_002834.3:c.214G>C
• NM_080601.1:c.214G>C
• c.214G>C

This HGVS expression did not pass validation

Protein change:

A71P

Links:

dbSNP: rs121918453

NCBI 1000 Genomes Browser:

rs121918453

Molecular consequence:

• NM_001330437.2:c.214G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374625.1:c.211G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_002834.5:c.214G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_080601.3:c.214G>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1