ClinVar

NM_000038.6(APC):c.7652A>T (p.His2551Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

5q22.2

Genomic location:

• Chr5: 112843246 (on Assembly GRCh38)
• Chr5: 112178943 (on Assembly GRCh37)

Preferred name:

NM_000038.6(APC):c.7652A>T (p.His2551Leu)

HGVS:

• NC_000005.10:g.112843246A>T
• NG_008481.4:g.155726A>T
• NM_000038.6:c.7652A>TMANE SELECT
• NM_001127510.3:c.7652A>T
• NM_001127511.3:c.7598A>T
• NM_001354895.2:c.7652A>T
• NM_001354896.2:c.7706A>T
• NM_001354897.2:c.7682A>T
• NM_001354898.2:c.7577A>T
• NM_001354899.2:c.7568A>T
• NM_001354900.2:c.7529A>T
• NM_001354901.2:c.7475A>T
• NM_001354902.2:c.7379A>T
• NM_001354903.2:c.7349A>T
• NM_001354904.2:c.7274A>T
• NM_001354905.2:c.7172A>T
• NM_001354906.2:c.6803A>T
• NP_000029.2:p.His2551Leu
• NP_001120982.1:p.His2551Leu
• NP_001120983.2:p.His2533Leu
• NP_001341824.1:p.His2551Leu
• NP_001341825.1:p.His2569Leu
• NP_001341826.1:p.His2561Leu
• NP_001341827.1:p.His2526Leu
• NP_001341828.1:p.His2523Leu
• NP_001341829.1:p.His2510Leu
• NP_001341830.1:p.His2492Leu
• NP_001341831.1:p.His2460Leu
• NP_001341832.1:p.His2450Leu
• NP_001341833.1:p.His2425Leu
• NP_001341834.1:p.His2391Leu
• NP_001341835.1:p.His2268Leu
• LRG_130:g.155726A>T
• NC_000005.9:g.112178943A>T
• NM_000038.5:c.7652A>T

This HGVS expression did not pass validation

Protein change:

H2268L

Links:

dbSNP: rs1060503314

NCBI 1000 Genomes Browser:

rs1060503314

Molecular consequence:

• NM_000038.6:c.7652A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127510.3:c.7652A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127511.3:c.7598A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354895.2:c.7652A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354896.2:c.7706A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354897.2:c.7682A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354898.2:c.7577A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354899.2:c.7568A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354900.2:c.7529A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354901.2:c.7475A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354902.2:c.7379A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354903.2:c.7349A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354904.2:c.7274A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354905.2:c.7172A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354906.2:c.6803A>T - missense variant - [Sequence Ontology: SO:0001583]