ClinVar

NM_000038.6(APC):c.7447G>A (p.Val2483Ile)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

5q22.2

Genomic location:

• Chr5: 112843041 (on Assembly GRCh38)
• Chr5: 112178738 (on Assembly GRCh37)

Preferred name:

NM_000038.6(APC):c.7447G>A (p.Val2483Ile)

HGVS:

• NC_000005.10:g.112843041G>A
• NG_008481.4:g.155521G>A
• NM_000038.5:c.7447G>A
• NM_000038.6:c.7447G>AMANE SELECT
• NM_001127510.3:c.7447G>A
• NM_001127511.3:c.7393G>A
• NM_001354895.2:c.7447G>A
• NM_001354896.2:c.7501G>A
• NM_001354897.2:c.7477G>A
• NM_001354898.2:c.7372G>A
• NM_001354899.2:c.7363G>A
• NM_001354900.2:c.7324G>A
• NM_001354901.2:c.7270G>A
• NM_001354902.2:c.7174G>A
• NM_001354903.2:c.7144G>A
• NM_001354904.2:c.7069G>A
• NM_001354905.2:c.6967G>A
• NM_001354906.2:c.6598G>A
• NP_000029.2:p.Val2483Ile
• NP_001120982.1:p.Val2483Ile
• NP_001120983.2:p.Val2465Ile
• NP_001341824.1:p.Val2483Ile
• NP_001341825.1:p.Val2501Ile
• NP_001341826.1:p.Val2493Ile
• NP_001341827.1:p.Val2458Ile
• NP_001341828.1:p.Val2455Ile
• NP_001341829.1:p.Val2442Ile
• NP_001341830.1:p.Val2424Ile
• NP_001341831.1:p.Val2392Ile
• NP_001341832.1:p.Val2382Ile
• NP_001341833.1:p.Val2357Ile
• NP_001341834.1:p.Val2323Ile
• NP_001341835.1:p.Val2200Ile
• LRG_130:g.155521G>A
• NC_000005.9:g.112178738G>A

This HGVS expression did not pass validation

Protein change:

V2200I

Links:

dbSNP: rs1554088371

NCBI 1000 Genomes Browser:

rs1554088371

Molecular consequence:

• NM_000038.6:c.7447G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127510.3:c.7447G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127511.3:c.7393G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354895.2:c.7447G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354896.2:c.7501G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354897.2:c.7477G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354898.2:c.7372G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354899.2:c.7363G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354900.2:c.7324G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354901.2:c.7270G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354902.2:c.7174G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354903.2:c.7144G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354904.2:c.7069G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354905.2:c.6967G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354906.2:c.6598G>A - missense variant - [Sequence Ontology: SO:0001583]