ClinVar

NM_000038.6(APC):c.7504G>A (p.Gly2502Ser)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

5q22.2

Genomic location:

• Chr5: 112843098 (on Assembly GRCh38)
• Chr5: 112178795 (on Assembly GRCh37)

Preferred name:

NM_000038.6(APC):c.7504G>A (p.Gly2502Ser)

Other names:

p.G2502S:GGT>AGT; CCDS4107.1:c.7504G>A

HGVS:

• NC_000005.10:g.112843098G>A
• NG_008481.4:g.155578G>A
• NM_000038.6:c.7504G>AMANE SELECT
• NM_001127510.3:c.7504G>A
• NM_001127511.3:c.7450G>A
• NM_001354895.2:c.7504G>A
• NM_001354896.2:c.7558G>A
• NM_001354897.2:c.7534G>A
• NM_001354898.2:c.7429G>A
• NM_001354899.2:c.7420G>A
• NM_001354900.2:c.7381G>A
• NM_001354901.2:c.7327G>A
• NM_001354902.2:c.7231G>A
• NM_001354903.2:c.7201G>A
• NM_001354904.2:c.7126G>A
• NM_001354905.2:c.7024G>A
• NM_001354906.2:c.6655G>A
• NP_000029.2:p.Gly2502Ser
• NP_000029.2:p.Gly2502Ser
• NP_001120982.1:p.Gly2502Ser
• NP_001120983.2:p.Gly2484Ser
• NP_001341824.1:p.Gly2502Ser
• NP_001341825.1:p.Gly2520Ser
• NP_001341826.1:p.Gly2512Ser
• NP_001341827.1:p.Gly2477Ser
• NP_001341828.1:p.Gly2474Ser
• NP_001341829.1:p.Gly2461Ser
• NP_001341830.1:p.Gly2443Ser
• NP_001341831.1:p.Gly2411Ser
• NP_001341832.1:p.Gly2401Ser
• NP_001341833.1:p.Gly2376Ser
• NP_001341834.1:p.Gly2342Ser
• NP_001341835.1:p.Gly2219Ser
• LRG_130t1:c.7504G>A
• LRG_130:g.155578G>A
• LRG_130p1:p.Gly2502Ser
• NC_000005.9:g.112178795G>A
• NM_000038.4:c.7504G>A
• NM_000038.5:c.7504G>A
• NM_001127510.2:c.7504G>A
• NM_001127511.2:c.7450G>A
• P25054:p.Gly2502Ser
• p.G2502S

This HGVS expression did not pass validation

Protein change:

G2219S

Links:

UniProtKB: P25054#VAR_005055; dbSNP: rs2229995

NCBI 1000 Genomes Browser:

rs2229995

Molecular consequence:

• NM_000038.6:c.7504G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127510.3:c.7504G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127511.3:c.7450G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354895.2:c.7504G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354896.2:c.7558G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354897.2:c.7534G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354898.2:c.7429G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354899.2:c.7420G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354900.2:c.7381G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354901.2:c.7327G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354902.2:c.7231G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354903.2:c.7201G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354904.2:c.7126G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354905.2:c.7024G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354906.2:c.6655G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

148