ClinVar

NM_001130145.3(YAP1):c.832C>T (p.Pro278Ser)

Gene:

YAP1:Yes1 associated transcriptional regulator [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q22.1

Genomic location:

• Chr11: 102205922 (on Assembly GRCh38)
• Chr11: 102076653 (on Assembly GRCh37)

Preferred name:

NM_001130145.3(YAP1):c.832C>T (p.Pro278Ser)

HGVS:

• NC_000011.10:g.102205922C>T
• NG_029530.2:g.100462C>T
• NM_001130145.2:c.832C>T
• NM_001130145.3:c.832C>TMANE SELECT
• NM_001195044.2:c.832C>T
• NM_001195045.2:c.298C>T
• NM_001282097.2:c.718C>T
• NM_001282098.2:c.718C>T
• NM_001282099.2:c.718C>T
• NM_001282100.2:c.832C>T
• NM_001282101.2:c.832C>T
• NM_006106.5:c.718C>T
• NP_001123617.1:p.Pro278Ser
• NP_001181973.1:p.Pro278Ser
• NP_001181974.1:p.Pro100Ser
• NP_001269026.1:p.Pro240Ser
• NP_001269027.1:p.Pro240Ser
• NP_001269028.1:p.Pro240Ser
• NP_001269029.1:p.Pro278Ser
• NP_001269030.1:p.Pro278Ser
• NP_006097.2:p.Pro240Ser
• NC_000011.9:g.102076653C>T

This HGVS expression did not pass validation

Protein change:

P100S

Links:

dbSNP: rs61746398

NCBI 1000 Genomes Browser:

rs61746398

Molecular consequence:

• NM_001130145.3:c.832C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195044.2:c.832C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195045.2:c.298C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282097.2:c.718C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282098.2:c.718C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282099.2:c.718C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282100.2:c.832C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282101.2:c.832C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_006106.5:c.718C>T - missense variant - [Sequence Ontology: SO:0001583]