ClinVar

NM_002834.5(PTPN11):c.957C>T (p.Asn319=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

12q24.13

Genomic location:

• Chr12: 112477880 (on Assembly GRCh38)
• Chr12: 112915684 (on Assembly GRCh37)

Preferred name:

NM_002834.5(PTPN11):c.957C>T (p.Asn319=)

HGVS:

• NC_000012.12:g.112477880C>T
• NG_007459.1:g.64149C>T
• NM_001330437.2:c.957C>T
• NM_001374625.1:c.954C>T
• NM_002834.5:c.957C>TMANE SELECT
• NM_080601.3:c.957C>T
• NP_001317366.1:p.Asn319=
• NP_001361554.1:p.Asn318=
• NP_002825.3:p.Asn319=
• NP_542168.1:p.Asn319=
• LRG_614t1:c.957C>T
• LRG_614:g.64149C>T
• NC_000012.11:g.112915684C>T
• NM_002834.3:c.957C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs771407775

NCBI 1000 Genomes Browser:

rs771407775

Molecular consequence:

• NM_001330437.2:c.957C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001374625.1:c.954C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_002834.5:c.957C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_080601.3:c.957C>T - synonymous variant - [Sequence Ontology: SO:0001819]