ClinVar

NM_000038.6(APC):c.7858T>A (p.Phe2620Ile)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

5q22.2

Genomic location:

• Chr5: 112843452 (on Assembly GRCh38)
• Chr5: 112179149 (on Assembly GRCh37)

Preferred name:

NM_000038.6(APC):c.7858T>A (p.Phe2620Ile)

HGVS:

• NC_000005.10:g.112843452T>A
• NG_008481.4:g.155932T>A
• NM_000038.6:c.7858T>AMANE SELECT
• NM_001127510.3:c.7858T>A
• NM_001127511.3:c.7804T>A
• NM_001354895.2:c.7858T>A
• NM_001354896.2:c.7912T>A
• NM_001354897.2:c.7888T>A
• NM_001354898.2:c.7783T>A
• NM_001354899.2:c.7774T>A
• NM_001354900.2:c.7735T>A
• NM_001354901.2:c.7681T>A
• NM_001354902.2:c.7585T>A
• NM_001354903.2:c.7555T>A
• NM_001354904.2:c.7480T>A
• NM_001354905.2:c.7378T>A
• NM_001354906.2:c.7009T>A
• NP_000029.2:p.Phe2620Ile
• NP_001120982.1:p.Phe2620Ile
• NP_001120983.2:p.Phe2602Ile
• NP_001341824.1:p.Phe2620Ile
• NP_001341825.1:p.Phe2638Ile
• NP_001341826.1:p.Phe2630Ile
• NP_001341827.1:p.Phe2595Ile
• NP_001341828.1:p.Phe2592Ile
• NP_001341829.1:p.Phe2579Ile
• NP_001341830.1:p.Phe2561Ile
• NP_001341831.1:p.Phe2529Ile
• NP_001341832.1:p.Phe2519Ile
• NP_001341833.1:p.Phe2494Ile
• NP_001341834.1:p.Phe2460Ile
• NP_001341835.1:p.Phe2337Ile
• LRG_130:g.155932T>A
• NC_000005.9:g.112179149T>A
• NM_000038.5:c.7858T>A
• NM_001127510.2:c.7858T>A
• p.F2620I

This HGVS expression did not pass validation

Protein change:

F2337I

Links:

dbSNP: rs587781816

NCBI 1000 Genomes Browser:

rs587781816

Molecular consequence:

• NM_000038.6:c.7858T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127510.3:c.7858T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127511.3:c.7804T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354895.2:c.7858T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354896.2:c.7912T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354897.2:c.7888T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354898.2:c.7783T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354899.2:c.7774T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354900.2:c.7735T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354901.2:c.7681T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354902.2:c.7585T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354903.2:c.7555T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354904.2:c.7480T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354905.2:c.7378T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354906.2:c.7009T>A - missense variant - [Sequence Ontology: SO:0001583]