ClinVar

NM_001330074.2(WASHC2C):c.3034G>A (p.Gly1012Ser)

Gene:

WASHC2C:WASH complex subunit 2C [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q11.22

Genomic location:

• Chr10: 45787194 (on Assembly GRCh38)
• Chr10: 46282642 (on Assembly GRCh37)

Preferred name:

NM_001330074.2(WASHC2C):c.3034G>A (p.Gly1012Ser)

HGVS:

• NC_000010.11:g.45787194G>A
• NM_001169106.2:c.2848G>A
• NM_001169107.2:c.2746G>A
• NM_001330074.2:c.3034G>AMANE SELECT
• NM_001367393.1:c.2965G>A
• NM_001367394.1:c.2776G>A
• NM_001367395.1:c.3097G>A
• NM_001367396.1:c.2809G>A
• NM_001367397.1:c.3034G>A
• NM_001367398.1:c.2383G>A
• NM_001367399.1:c.2503G>A
• NM_001367400.1:c.2899G>A
• NM_001367401.1:c.2884G>A
• NM_001367402.1:c.2392G>A
• NM_001367403.1:c.2962G>A
• NM_001367404.1:c.2875G>A
• NM_001367405.1:c.2392G>A
• NM_001367406.1:c.1144G>A
• NM_001367407.1:c.2392G>A
• NM_001367408.1:c.2818G>A
• NM_001367409.1:c.2710G>A
• NM_001367410.1:c.2707G>A
• NM_001367411.1:c.2773G>A
• NM_001367412.1:c.2455G>A
• NM_001367413.1:c.2515G>A
• NM_001367414.1:c.2392G>A
• NM_001367415.1:c.2695G>A
• NM_001367416.1:c.2689-1677G>A
• NM_015262.3:c.2971G>A
• NP_001162577.1:p.Gly950Ser
• NP_001162578.1:p.Gly916Ser
• NP_001317003.1:p.Gly1012Ser
• NP_001354322.1:p.Gly989Ser
• NP_001354323.1:p.Gly926Ser
• NP_001354324.1:p.Gly1033Ser
• NP_001354325.1:p.Gly937Ser
• NP_001354326.1:p.Gly1012Ser
• NP_001354327.1:p.Gly795Ser
• NP_001354328.1:p.Gly835Ser
• NP_001354329.1:p.Gly967Ser
• NP_001354330.1:p.Gly962Ser
• NP_001354331.1:p.Gly798Ser
• NP_001354332.1:p.Gly988Ser
• NP_001354333.1:p.Gly959Ser
• NP_001354334.1:p.Gly798Ser
• NP_001354335.1:p.Gly382Ser
• NP_001354336.1:p.Gly798Ser
• NP_001354337.1:p.Gly940Ser
• NP_001354338.1:p.Gly904Ser
• NP_001354339.1:p.Gly903Ser
• NP_001354340.1:p.Gly925Ser
• NP_001354341.1:p.Gly819Ser
• NP_001354342.1:p.Gly839Ser
• NP_001354343.1:p.Gly798Ser
• NP_001354344.1:p.Gly899Ser
• NP_056077.2:p.Gly991Ser
• NC_000010.10:g.46282642G>A
• NM_015262.2:c.2971G>A
• NR_159966.1:n.3429G>A

This HGVS expression did not pass validation

Protein change:

G1012S

Molecular consequence:

• NM_001367416.1:c.2689-1677G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001169106.2:c.2848G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001169107.2:c.2746G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001330074.2:c.3034G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001367393.1:c.2965G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001367394.1:c.2776G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001367395.1:c.3097G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001367396.1:c.2809G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001367397.1:c.3034G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001367398.1:c.2383G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001367399.1:c.2503G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001367400.1:c.2899G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001367401.1:c.2884G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001367402.1:c.2392G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001367403.1:c.2962G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001367404.1:c.2875G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001367405.1:c.2392G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001367406.1:c.1144G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001367407.1:c.2392G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001367408.1:c.2818G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001367409.1:c.2710G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001367410.1:c.2707G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001367411.1:c.2773G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001367412.1:c.2455G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001367413.1:c.2515G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001367414.1:c.2392G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001367415.1:c.2695G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_015262.3:c.2971G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_159966.1:n.3429G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]