ClinVar

NM_000038.6(APC):c.7501G>T (p.Ala2501Ser)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

5q22.2

Genomic location:

• Chr5: 112843095 (on Assembly GRCh38)
• Chr5: 112178792 (on Assembly GRCh37)

Preferred name:

NM_000038.6(APC):c.7501G>T (p.Ala2501Ser)

HGVS:

• NC_000005.10:g.112843095G>T
• NG_008481.4:g.155575G>T
• NM_000038.6:c.7501G>TMANE SELECT
• NM_001127510.3:c.7501G>T
• NM_001127511.3:c.7447G>T
• NM_001354895.2:c.7501G>T
• NM_001354896.2:c.7555G>T
• NM_001354897.2:c.7531G>T
• NM_001354898.2:c.7426G>T
• NM_001354899.2:c.7417G>T
• NM_001354900.2:c.7378G>T
• NM_001354901.2:c.7324G>T
• NM_001354902.2:c.7228G>T
• NM_001354903.2:c.7198G>T
• NM_001354904.2:c.7123G>T
• NM_001354905.2:c.7021G>T
• NM_001354906.2:c.6652G>T
• NP_000029.2:p.Ala2501Ser
• NP_001120982.1:p.Ala2501Ser
• NP_001120983.2:p.Ala2483Ser
• NP_001341824.1:p.Ala2501Ser
• NP_001341825.1:p.Ala2519Ser
• NP_001341826.1:p.Ala2511Ser
• NP_001341827.1:p.Ala2476Ser
• NP_001341828.1:p.Ala2473Ser
• NP_001341829.1:p.Ala2460Ser
• NP_001341830.1:p.Ala2442Ser
• NP_001341831.1:p.Ala2410Ser
• NP_001341832.1:p.Ala2400Ser
• NP_001341833.1:p.Ala2375Ser
• NP_001341834.1:p.Ala2341Ser
• NP_001341835.1:p.Ala2218Ser
• LRG_130:g.155575G>T
• NC_000005.9:g.112178792G>T

This HGVS expression did not pass validation

Protein change:

A2218S

Links:

dbSNP: rs2149988472

NCBI 1000 Genomes Browser:

rs2149988472

Molecular consequence:

• NM_000038.6:c.7501G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127510.3:c.7501G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127511.3:c.7447G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354895.2:c.7501G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354896.2:c.7555G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354897.2:c.7531G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354898.2:c.7426G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354899.2:c.7417G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354900.2:c.7378G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354901.2:c.7324G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354902.2:c.7228G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354903.2:c.7198G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354904.2:c.7123G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354905.2:c.7021G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354906.2:c.6652G>T - missense variant - [Sequence Ontology: SO:0001583]