ClinVar

NM_000038.6(APC):c.4420G>A (p.Ala1474Thr)

Gene:

APC:APC regulator of Wnt signaling pathway [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q22.2

Genomic location:

• Chr5: 112840014 (on Assembly GRCh38)
• Chr5: 112175711 (on Assembly GRCh37)

Preferred name:

NM_000038.6(APC):c.4420G>A (p.Ala1474Thr)

Other names:

p.A1474T:GCT>ACT; NM_000038.6(APC):c.4420G>A

HGVS:

• NC_000005.10:g.112840014G>A
• NG_008481.4:g.152494G>A
• NM_000038.6:c.4420G>AMANE SELECT
• NM_001127510.3:c.4420G>A
• NM_001127511.3:c.4366G>A
• NM_001354895.2:c.4420G>A
• NM_001354896.2:c.4474G>A
• NM_001354897.2:c.4450G>A
• NM_001354898.2:c.4345G>A
• NM_001354899.2:c.4336G>A
• NM_001354900.2:c.4297G>A
• NM_001354901.2:c.4243G>A
• NM_001354902.2:c.4147G>A
• NM_001354903.2:c.4117G>A
• NM_001354904.2:c.4042G>A
• NM_001354905.2:c.3940G>A
• NM_001354906.2:c.3571G>A
• NP_000029.2:p.Ala1474Thr
• NP_001120982.1:p.Ala1474Thr
• NP_001120983.2:p.Ala1456Thr
• NP_001341824.1:p.Ala1474Thr
• NP_001341825.1:p.Ala1492Thr
• NP_001341826.1:p.Ala1484Thr
• NP_001341827.1:p.Ala1449Thr
• NP_001341828.1:p.Ala1446Thr
• NP_001341829.1:p.Ala1433Thr
• NP_001341830.1:p.Ala1415Thr
• NP_001341831.1:p.Ala1383Thr
• NP_001341832.1:p.Ala1373Thr
• NP_001341833.1:p.Ala1348Thr
• NP_001341834.1:p.Ala1314Thr
• NP_001341835.1:p.Ala1191Thr
• LRG_130t1:c.4420G>A
• LRG_130:g.152494G>A
• NC_000005.9:g.112175711G>A
• NM_000038.4:c.4420G>A
• NM_000038.5:c.4420G>A
• NM_001127510.2:c.4420G>A
• p.A1474T

This HGVS expression did not pass validation

Protein change:

A1191T

Links:

dbSNP: rs139387758

Molecular consequence:

• NM_000038.6:c.4420G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127510.3:c.4420G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127511.3:c.4366G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354895.2:c.4420G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354896.2:c.4474G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354897.2:c.4450G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354898.2:c.4345G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354899.2:c.4336G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354900.2:c.4297G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354901.2:c.4243G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354902.2:c.4147G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354903.2:c.4117G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354904.2:c.4042G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354905.2:c.3940G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354906.2:c.3571G>A - missense variant - [Sequence Ontology: SO:0001583]