ClinVar

NM_002834.5(PTPN11):c.*2731G>A

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

12q24.13

Genomic location:

• Chr12: 112508523 (on Assembly GRCh38)
• Chr12: 112946327 (on Assembly GRCh37)

Preferred name:

NM_002834.5(PTPN11):c.*2731G>A

HGVS:

• NC_000012.12:g.112508523G>A
• NG_007459.1:g.94792G>A
• NM_001330437.2:c.*2731G>A
• NM_001374625.1:c.*2731G>A
• NM_002834.5:c.*2731G>AMANE SELECT
• LRG_614t1:c.*2731G>A
• LRG_614:g.94792G>A
• NC_000012.11:g.112946327G>A
• NM_002834.3:c.*2731G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs768622106

NCBI 1000 Genomes Browser:

rs768622106

Molecular consequence:

• NM_001330437.2:c.*2731G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001374625.1:c.*2731G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_002834.5:c.*2731G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]