ClinVar

NM_000038.6(APC):c.1297C>T (p.Gln433Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

5q22.2

Genomic location:

• Chr5: 112819329 (on Assembly GRCh38)
• Chr5: 112155026 (on Assembly GRCh37)

Preferred name:

NM_000038.6(APC):c.1297C>T (p.Gln433Ter)

HGVS:

• NC_000005.10:g.112819329C>T
• NG_008481.4:g.131809C>T
• NM_000038.6:c.1297C>TMANE SELECT
• NM_001127510.3:c.1297C>T
• NM_001127511.3:c.1243C>T
• NM_001354895.2:c.1297C>T
• NM_001354896.2:c.1297C>T
• NM_001354897.2:c.1327C>T
• NM_001354898.2:c.1222C>T
• NM_001354899.2:c.1213C>T
• NM_001354900.2:c.1120C>T
• NM_001354901.2:c.1120C>T
• NM_001354902.2:c.1024C>T
• NM_001354903.2:c.994C>T
• NM_001354904.2:c.919C>T
• NM_001354905.2:c.817C>T
• NM_001354906.2:c.448C>T
• NP_000029.2:p.Gln433Ter
• NP_001120982.1:p.Gln433Ter
• NP_001120983.2:p.Gln415Ter
• NP_001341824.1:p.Gln433Ter
• NP_001341825.1:p.Gln433Ter
• NP_001341826.1:p.Gln443Ter
• NP_001341827.1:p.Gln408Ter
• NP_001341828.1:p.Gln405Ter
• NP_001341829.1:p.Gln374Ter
• NP_001341830.1:p.Gln374Ter
• NP_001341831.1:p.Gln342Ter
• NP_001341832.1:p.Gln332Ter
• NP_001341833.1:p.Gln307Ter
• NP_001341834.1:p.Gln273Ter
• NP_001341835.1:p.Gln150Ter
• LRG_130:g.131809C>T
• NC_000005.9:g.112155026C>T
• NM_000038.5:c.1297C>T

This HGVS expression did not pass validation

Protein change:

Q150*

Links:

dbSNP: rs863225309

NCBI 1000 Genomes Browser:

rs863225309

Molecular consequence:

• NM_000038.6:c.1297C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001127510.3:c.1297C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001127511.3:c.1243C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001354895.2:c.1297C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001354896.2:c.1297C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001354897.2:c.1327C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001354898.2:c.1222C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001354899.2:c.1213C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001354900.2:c.1120C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001354901.2:c.1120C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001354902.2:c.1024C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001354903.2:c.994C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001354904.2:c.919C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001354905.2:c.817C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001354906.2:c.448C>T - nonsense - [Sequence Ontology: SO:0001587]