ClinVar

NM_000038.6(APC):c.1370C>A (p.Ser457Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

5q22.2

Genomic location:

• Chr5: 112821953 (on Assembly GRCh38)
• Chr5: 112157650 (on Assembly GRCh37)

Preferred name:

NM_000038.6(APC):c.1370C>A (p.Ser457Ter)

HGVS:

• NC_000005.10:g.112821953C>A
• NG_008481.4:g.134433C>A
• NM_000038.6:c.1370C>AMANE SELECT
• NM_001127510.3:c.1370C>A
• NM_001127511.3:c.1316C>A
• NM_001354895.2:c.1370C>A
• NM_001354896.2:c.1370C>A
• NM_001354897.2:c.1400C>A
• NM_001354898.2:c.1295C>A
• NM_001354899.2:c.1286C>A
• NM_001354900.2:c.1193C>A
• NM_001354901.2:c.1193C>A
• NM_001354902.2:c.1097C>A
• NM_001354903.2:c.1067C>A
• NM_001354904.2:c.992C>A
• NM_001354905.2:c.890C>A
• NM_001354906.2:c.521C>A
• NP_000029.2:p.Ser457Ter
• NP_001120982.1:p.Ser457Ter
• NP_001120983.2:p.Ser439Ter
• NP_001341824.1:p.Ser457Ter
• NP_001341825.1:p.Ser457Ter
• NP_001341826.1:p.Ser467Ter
• NP_001341827.1:p.Ser432Ter
• NP_001341828.1:p.Ser429Ter
• NP_001341829.1:p.Ser398Ter
• NP_001341830.1:p.Ser398Ter
• NP_001341831.1:p.Ser366Ter
• NP_001341832.1:p.Ser356Ter
• NP_001341833.1:p.Ser331Ter
• NP_001341834.1:p.Ser297Ter
• NP_001341835.1:p.Ser174Ter
• LRG_130:g.134433C>A
• NC_000005.9:g.112157650C>A
• NM_000038.5:c.1370C>A
• p.Ser457*

This HGVS expression did not pass validation

Protein change:

S174*

Links:

dbSNP: rs1060503333

NCBI 1000 Genomes Browser:

rs1060503333

Molecular consequence:

• NM_000038.6:c.1370C>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001127510.3:c.1370C>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001127511.3:c.1316C>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001354895.2:c.1370C>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001354896.2:c.1370C>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001354897.2:c.1400C>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001354898.2:c.1295C>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001354899.2:c.1286C>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001354900.2:c.1193C>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001354901.2:c.1193C>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001354902.2:c.1097C>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001354903.2:c.1067C>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001354904.2:c.992C>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001354905.2:c.890C>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001354906.2:c.521C>A - nonsense - [Sequence Ontology: SO:0001587]

Observations:

1