ClinVar

NM_000038.6(APC):c.6866C>A (p.Thr2289Lys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

5q22.2

Genomic location:

• Chr5: 112842460 (on Assembly GRCh38)
• Chr5: 112178157 (on Assembly GRCh37)

Preferred name:

NM_000038.6(APC):c.6866C>A (p.Thr2289Lys)

HGVS:

• NC_000005.10:g.112842460C>A
• NG_008481.4:g.154940C>A
• NM_000038.6:c.6866C>AMANE SELECT
• NM_001127510.3:c.6866C>A
• NM_001127511.3:c.6812C>A
• NM_001354895.2:c.6866C>A
• NM_001354896.2:c.6920C>A
• NM_001354897.2:c.6896C>A
• NM_001354898.2:c.6791C>A
• NM_001354899.2:c.6782C>A
• NM_001354900.2:c.6743C>A
• NM_001354901.2:c.6689C>A
• NM_001354902.2:c.6593C>A
• NM_001354903.2:c.6563C>A
• NM_001354904.2:c.6488C>A
• NM_001354905.2:c.6386C>A
• NM_001354906.2:c.6017C>A
• NP_000029.2:p.Thr2289Lys
• NP_001120982.1:p.Thr2289Lys
• NP_001120983.2:p.Thr2271Lys
• NP_001341824.1:p.Thr2289Lys
• NP_001341825.1:p.Thr2307Lys
• NP_001341826.1:p.Thr2299Lys
• NP_001341827.1:p.Thr2264Lys
• NP_001341828.1:p.Thr2261Lys
• NP_001341829.1:p.Thr2248Lys
• NP_001341830.1:p.Thr2230Lys
• NP_001341831.1:p.Thr2198Lys
• NP_001341832.1:p.Thr2188Lys
• NP_001341833.1:p.Thr2163Lys
• NP_001341834.1:p.Thr2129Lys
• NP_001341835.1:p.Thr2006Lys
• LRG_130:g.154940C>A
• NC_000005.9:g.112178157C>A
• NM_000038.5:c.6866C>A

This HGVS expression did not pass validation

Protein change:

T2006K

Links:

dbSNP: rs876660654

NCBI 1000 Genomes Browser:

rs876660654

Molecular consequence:

• NM_000038.6:c.6866C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127510.3:c.6866C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127511.3:c.6812C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354895.2:c.6866C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354896.2:c.6920C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354897.2:c.6896C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354898.2:c.6791C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354899.2:c.6782C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354900.2:c.6743C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354901.2:c.6689C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354902.2:c.6593C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354903.2:c.6563C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354904.2:c.6488C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354905.2:c.6386C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354906.2:c.6017C>A - missense variant - [Sequence Ontology: SO:0001583]