ClinVar

NM_002834.5(PTPN11):c.1682C>T (p.Pro561Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

12q24.13

Genomic location:

• Chr12: 112502226 (on Assembly GRCh38)
• Chr12: 112940030 (on Assembly GRCh37)

Preferred name:

NM_002834.5(PTPN11):c.1682C>T (p.Pro561Leu)

Other names:

p.P561L:CCG>CTG

HGVS:

• NC_000012.12:g.112502226C>T
• NG_007459.1:g.88495C>T
• NM_001330437.2:c.1694C>T
• NM_001374625.1:c.1679C>T
• NM_002834.5:c.1682C>TMANE SELECT
• NP_001317366.1:p.Pro565Leu
• NP_001361554.1:p.Pro560Leu
• NP_002825.3:p.Pro561Leu
• NP_002825.3:p.Pro561Leu
• LRG_614t1:c.1682C>T
• LRG_614:g.88495C>T
• LRG_614p1:p.Pro561Leu
• NC_000012.11:g.112940030C>T
• NM_002834.3:c.1682C>T
• NM_002834.4:c.1682C>T
• NM_080601.1:c.*15593C>T

This HGVS expression did not pass validation

Protein change:

P560L

Links:

dbSNP: rs141140214

NCBI 1000 Genomes Browser:

rs141140214

Molecular consequence:

• NM_001330437.2:c.1694C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374625.1:c.1679C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_002834.5:c.1682C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

2