ClinVar

NM_000038.6(APC):c.7511G>A (p.Trp2504Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

5q22.2

Genomic location:

• Chr5: 112843105 (on Assembly GRCh38)
• Chr5: 112178802 (on Assembly GRCh37)

Preferred name:

NM_000038.6(APC):c.7511G>A (p.Trp2504Ter)

HGVS:

• NC_000005.10:g.112843105G>A
• NG_008481.4:g.155585G>A
• NM_000038.6:c.7511G>AMANE SELECT
• NM_001127510.3:c.7511G>A
• NM_001127511.3:c.7457G>A
• NM_001354895.2:c.7511G>A
• NM_001354896.2:c.7565G>A
• NM_001354897.2:c.7541G>A
• NM_001354898.2:c.7436G>A
• NM_001354899.2:c.7427G>A
• NM_001354900.2:c.7388G>A
• NM_001354901.2:c.7334G>A
• NM_001354902.2:c.7238G>A
• NM_001354903.2:c.7208G>A
• NM_001354904.2:c.7133G>A
• NM_001354905.2:c.7031G>A
• NM_001354906.2:c.6662G>A
• NP_000029.2:p.Trp2504Ter
• NP_001120982.1:p.Trp2504Ter
• NP_001120983.2:p.Trp2486Ter
• NP_001341824.1:p.Trp2504Ter
• NP_001341825.1:p.Trp2522Ter
• NP_001341826.1:p.Trp2514Ter
• NP_001341827.1:p.Trp2479Ter
• NP_001341828.1:p.Trp2476Ter
• NP_001341829.1:p.Trp2463Ter
• NP_001341830.1:p.Trp2445Ter
• NP_001341831.1:p.Trp2413Ter
• NP_001341832.1:p.Trp2403Ter
• NP_001341833.1:p.Trp2378Ter
• NP_001341834.1:p.Trp2344Ter
• NP_001341835.1:p.Trp2221Ter
• LRG_130:g.155585G>A
• NC_000005.9:g.112178802G>A
• NM_000038.5:c.7511G>A

This HGVS expression did not pass validation

Protein change:

W2221*

Links:

dbSNP: rs755046558

NCBI 1000 Genomes Browser:

rs755046558

Molecular consequence:

• NM_000038.6:c.7511G>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001127510.3:c.7511G>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001127511.3:c.7457G>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001354895.2:c.7511G>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001354896.2:c.7565G>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001354897.2:c.7541G>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001354898.2:c.7436G>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001354899.2:c.7427G>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001354900.2:c.7388G>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001354901.2:c.7334G>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001354902.2:c.7238G>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001354903.2:c.7208G>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001354904.2:c.7133G>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001354905.2:c.7031G>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001354906.2:c.6662G>A - nonsense - [Sequence Ontology: SO:0001587]