ClinVar

NM_000038.6(APC):c.7336G>T (p.Glu2446Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

5q22.2

Genomic location:

• Chr5: 112842930 (on Assembly GRCh38)
• Chr5: 112178627 (on Assembly GRCh37)

Preferred name:

NM_000038.6(APC):c.7336G>T (p.Glu2446Ter)

HGVS:

• NC_000005.10:g.112842930G>T
• NG_008481.4:g.155410G>T
• NM_000038.6:c.7336G>TMANE SELECT
• NM_001127510.3:c.7336G>T
• NM_001127511.3:c.7282G>T
• NM_001354895.2:c.7336G>T
• NM_001354896.2:c.7390G>T
• NM_001354897.2:c.7366G>T
• NM_001354898.2:c.7261G>T
• NM_001354899.2:c.7252G>T
• NM_001354900.2:c.7213G>T
• NM_001354901.2:c.7159G>T
• NM_001354902.2:c.7063G>T
• NM_001354903.2:c.7033G>T
• NM_001354904.2:c.6958G>T
• NM_001354905.2:c.6856G>T
• NM_001354906.2:c.6487G>T
• NM_001407446.1:c.7420G>T
• NM_001407447.1:c.7390G>T
• NM_001407448.1:c.7390G>T
• NM_001407449.1:c.7390G>T
• NM_001407450.1:c.7336G>T
• NM_001407451.1:c.7315G>T
• NM_001407452.1:c.7306G>T
• NM_001407453.1:c.7159G>T
• NM_001407454.1:c.7087G>T
• NM_001407455.1:c.7087G>T
• NM_001407456.1:c.7087G>T
• NM_001407457.1:c.7087G>T
• NM_001407458.1:c.7033G>T
• NM_001407459.1:c.7033G>T
• NM_001407460.1:c.7033G>T
• NM_001407467.1:c.6949G>T
• NM_001407469.1:c.6949G>T
• NM_001407470.1:c.6487G>T
• NM_001407471.1:c.6184G>T
• NM_001407472.1:c.6184G>T
• NP_000029.2:p.Glu2446Ter
• NP_000029.2:p.Glu2446Ter
• NP_001120982.1:p.Glu2446Ter
• NP_001120982.1:p.Glu2446Ter
• NP_001120983.1:p.Glu2446Ter
• NP_001120983.2:p.Glu2428Ter
• NP_001341824.1:p.Glu2446Ter
• NP_001341825.1:p.Glu2464Ter
• NP_001341826.1:p.Glu2456Ter
• NP_001341827.1:p.Glu2421Ter
• NP_001341828.1:p.Glu2418Ter
• NP_001341829.1:p.Glu2405Ter
• NP_001341830.1:p.Glu2387Ter
• NP_001341831.1:p.Glu2355Ter
• NP_001341832.1:p.Glu2345Ter
• NP_001341833.1:p.Glu2320Ter
• NP_001341834.1:p.Glu2286Ter
• NP_001341835.1:p.Glu2163Ter
• NP_001394375.1:p.Glu2474Ter
• NP_001394376.1:p.Glu2464Ter
• NP_001394377.1:p.Glu2464Ter
• NP_001394378.1:p.Glu2464Ter
• NP_001394379.1:p.Glu2446Ter
• NP_001394380.1:p.Glu2439Ter
• NP_001394381.1:p.Glu2436Ter
• NP_001394382.1:p.Glu2387Ter
• NP_001394383.1:p.Glu2363Ter
• NP_001394384.1:p.Glu2363Ter
• NP_001394385.1:p.Glu2363Ter
• NP_001394386.1:p.Glu2363Ter
• NP_001394387.1:p.Glu2345Ter
• NP_001394388.1:p.Glu2345Ter
• NP_001394389.1:p.Glu2345Ter
• NP_001394396.1:p.Glu2317Ter
• NP_001394398.1:p.Glu2317Ter
• NP_001394399.1:p.Glu2163Ter
• NP_001394400.1:p.Glu2062Ter
• NP_001394401.1:p.Glu2062Ter
• LRG_130t1:c.7336G>T
• LRG_130t2:c.7336G>T
• LRG_130t3:c.7336G>T
• LRG_130:g.155410G>T
• LRG_130p1:p.Glu2446Ter
• LRG_130p2:p.Glu2446Ter
• LRG_130p3:p.Glu2446Ter
• NC_000005.9:g.112178627G>T
• NM_000038.4:c.7336G>T
• NM_001127510.1:c.7336G>T
• NM_001127511.1:c.7336G>T
• NR_176365.1:n.7171G>T
• NR_176366.1:n.7590G>T

This HGVS expression did not pass validation

Protein change:

E2062*

Molecular consequence:

• NR_176365.1:n.7171G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_176366.1:n.7590G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_000038.6:c.7336G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001127510.3:c.7336G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001127511.3:c.7282G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001354895.2:c.7336G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001354896.2:c.7390G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001354897.2:c.7366G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001354898.2:c.7261G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001354899.2:c.7252G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001354900.2:c.7213G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001354901.2:c.7159G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001354902.2:c.7063G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001354903.2:c.7033G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001354904.2:c.6958G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001354905.2:c.6856G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001354906.2:c.6487G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001407446.1:c.7420G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001407447.1:c.7390G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001407448.1:c.7390G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001407449.1:c.7390G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001407450.1:c.7336G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001407451.1:c.7315G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001407452.1:c.7306G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001407453.1:c.7159G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001407454.1:c.7087G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001407455.1:c.7087G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001407456.1:c.7087G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001407457.1:c.7087G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001407458.1:c.7033G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001407459.1:c.7033G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001407460.1:c.7033G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001407467.1:c.6949G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001407469.1:c.6949G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001407470.1:c.6487G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001407471.1:c.6184G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001407472.1:c.6184G>T - nonsense - [Sequence Ontology: SO:0001587]