ClinVar

NM_002834.5(PTPN11):c.854-30T>C

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

12q24.13

Genomic location:

• Chr12: 112477621 (on Assembly GRCh38)
• Chr12: 112915425 (on Assembly GRCh37)

Preferred name:

NM_002834.5(PTPN11):c.854-30T>C

HGVS:

• NC_000012.12:g.112477621T>C
• NG_007459.1:g.63890T>C
• NM_001330437.2:c.854-30T>C
• NM_001374625.1:c.851-30T>C
• NM_002834.5:c.854-30T>CMANE SELECT
• NM_080601.3:c.854-30T>C
• LRG_614t1:c.854-30T>C
• LRG_614:g.63890T>C
• NC_000012.11:g.112915425T>C
• NM_002834.3:c.854-30T>C

This HGVS expression did not pass validation

Links:

dbSNP: rs144391508

NCBI 1000 Genomes Browser:

rs144391508

Molecular consequence:

• NM_001330437.2:c.854-30T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001374625.1:c.851-30T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_002834.5:c.854-30T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_080601.3:c.854-30T>C - intron variant - [Sequence Ontology: SO:0001627]