ClinVar

NM_000038.6(APC):c.7441A>T (p.Thr2481Ser)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

5q22.2

Genomic location:

• Chr5: 112843035 (on Assembly GRCh38)
• Chr5: 112178732 (on Assembly GRCh37)

Preferred name:

NM_000038.6(APC):c.7441A>T (p.Thr2481Ser)

HGVS:

• NC_000005.10:g.112843035A>T
• NG_008481.4:g.155515A>T
• NM_000038.6:c.7441A>TMANE SELECT
• NM_001127510.3:c.7441A>T
• NM_001127511.3:c.7387A>T
• NM_001354895.2:c.7441A>T
• NM_001354896.2:c.7495A>T
• NM_001354897.2:c.7471A>T
• NM_001354898.2:c.7366A>T
• NM_001354899.2:c.7357A>T
• NM_001354900.2:c.7318A>T
• NM_001354901.2:c.7264A>T
• NM_001354902.2:c.7168A>T
• NM_001354903.2:c.7138A>T
• NM_001354904.2:c.7063A>T
• NM_001354905.2:c.6961A>T
• NM_001354906.2:c.6592A>T
• NP_000029.2:p.Thr2481Ser
• NP_001120982.1:p.Thr2481Ser
• NP_001120983.2:p.Thr2463Ser
• NP_001341824.1:p.Thr2481Ser
• NP_001341825.1:p.Thr2499Ser
• NP_001341826.1:p.Thr2491Ser
• NP_001341827.1:p.Thr2456Ser
• NP_001341828.1:p.Thr2453Ser
• NP_001341829.1:p.Thr2440Ser
• NP_001341830.1:p.Thr2422Ser
• NP_001341831.1:p.Thr2390Ser
• NP_001341832.1:p.Thr2380Ser
• NP_001341833.1:p.Thr2355Ser
• NP_001341834.1:p.Thr2321Ser
• NP_001341835.1:p.Thr2198Ser
• LRG_130:g.155515A>T
• NC_000005.9:g.112178732A>T
• NM_000038.5:c.7441A>T

This HGVS expression did not pass validation

Protein change:

T2198S

Links:

dbSNP: rs1321275331

NCBI 1000 Genomes Browser:

rs1321275331

Molecular consequence:

• NM_000038.6:c.7441A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127510.3:c.7441A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127511.3:c.7387A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354895.2:c.7441A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354896.2:c.7495A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354897.2:c.7471A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354898.2:c.7366A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354899.2:c.7357A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354900.2:c.7318A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354901.2:c.7264A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354902.2:c.7168A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354903.2:c.7138A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354904.2:c.7063A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354905.2:c.6961A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354906.2:c.6592A>T - missense variant - [Sequence Ontology: SO:0001583]