ClinVar

NM_000038.6(APC):c.7090A>T (p.Met2364Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

5q22.2

Genomic location:

• Chr5: 112842684 (on Assembly GRCh38)
• Chr5: 112178381 (on Assembly GRCh37)

Preferred name:

NM_000038.6(APC):c.7090A>T (p.Met2364Leu)

HGVS:

• NC_000005.10:g.112842684A>T
• NG_008481.4:g.155164A>T
• NM_000038.6:c.7090A>TMANE SELECT
• NM_001127510.3:c.7090A>T
• NM_001127511.3:c.7036A>T
• NM_001354895.2:c.7090A>T
• NM_001354896.2:c.7144A>T
• NM_001354897.2:c.7120A>T
• NM_001354898.2:c.7015A>T
• NM_001354899.2:c.7006A>T
• NM_001354900.2:c.6967A>T
• NM_001354901.2:c.6913A>T
• NM_001354902.2:c.6817A>T
• NM_001354903.2:c.6787A>T
• NM_001354904.2:c.6712A>T
• NM_001354905.2:c.6610A>T
• NM_001354906.2:c.6241A>T
• NP_000029.2:p.Met2364Leu
• NP_001120982.1:p.Met2364Leu
• NP_001120983.2:p.Met2346Leu
• NP_001341824.1:p.Met2364Leu
• NP_001341825.1:p.Met2382Leu
• NP_001341826.1:p.Met2374Leu
• NP_001341827.1:p.Met2339Leu
• NP_001341828.1:p.Met2336Leu
• NP_001341829.1:p.Met2323Leu
• NP_001341830.1:p.Met2305Leu
• NP_001341831.1:p.Met2273Leu
• NP_001341832.1:p.Met2263Leu
• NP_001341833.1:p.Met2238Leu
• NP_001341834.1:p.Met2204Leu
• NP_001341835.1:p.Met2081Leu
• LRG_130:g.155164A>T
• NC_000005.9:g.112178381A>T

This HGVS expression did not pass validation

Protein change:

M2081L

Links:

dbSNP: rs768929466

NCBI 1000 Genomes Browser:

rs768929466

Molecular consequence:

• NM_000038.6:c.7090A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127510.3:c.7090A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127511.3:c.7036A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354895.2:c.7090A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354896.2:c.7144A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354897.2:c.7120A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354898.2:c.7015A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354899.2:c.7006A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354900.2:c.6967A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354901.2:c.6913A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354902.2:c.6817A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354903.2:c.6787A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354904.2:c.6712A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354905.2:c.6610A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354906.2:c.6241A>T - missense variant - [Sequence Ontology: SO:0001583]