ClinVar

NM_000038.6(APC):c.7201C>T (p.Leu2401=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

5q22.2

Genomic location:

• Chr5: 112842795 (on Assembly GRCh38)
• Chr5: 112178492 (on Assembly GRCh37)

Preferred name:

NM_000038.6(APC):c.7201C>T (p.Leu2401=)

Other names:

CCDS4107.1:c.7201C>T; p.Leu2401Leu

HGVS:

• NC_000005.10:g.112842795C>T
• NG_008481.4:g.155275C>T
• NM_000038.6:c.7201C>TMANE SELECT
• NM_001127510.3:c.7201C>T
• NM_001127511.3:c.7147C>T
• NM_001354895.2:c.7201C>T
• NM_001354896.2:c.7255C>T
• NM_001354897.2:c.7231C>T
• NM_001354898.2:c.7126C>T
• NM_001354899.2:c.7117C>T
• NM_001354900.2:c.7078C>T
• NM_001354901.2:c.7024C>T
• NM_001354902.2:c.6928C>T
• NM_001354903.2:c.6898C>T
• NM_001354904.2:c.6823C>T
• NM_001354905.2:c.6721C>T
• NM_001354906.2:c.6352C>T
• NP_000029.2:p.Leu2401=
• NP_001120982.1:p.Leu2401=
• NP_001120983.2:p.Leu2383=
• NP_001341824.1:p.Leu2401=
• NP_001341825.1:p.Leu2419=
• NP_001341826.1:p.Leu2411=
• NP_001341827.1:p.Leu2376=
• NP_001341828.1:p.Leu2373=
• NP_001341829.1:p.Leu2360=
• NP_001341830.1:p.Leu2342=
• NP_001341831.1:p.Leu2310=
• NP_001341832.1:p.Leu2300=
• NP_001341833.1:p.Leu2275=
• NP_001341834.1:p.Leu2241=
• NP_001341835.1:p.Leu2118=
• LRG_130t1:c.7201C>T
• LRG_130:g.155275C>T
• NC_000005.9:g.112178492C>T
• NM_000038.4:c.7201C>T
• NM_000038.5:c.7201C>T
• NM_001127510.2:c.7201C>T
• c.7201C>T
• p.L2401L

This HGVS expression did not pass validation

Links:

dbSNP: rs2229994

NCBI 1000 Genomes Browser:

rs2229994

Molecular consequence:

• NM_000038.6:c.7201C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001127510.3:c.7201C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001127511.3:c.7147C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354895.2:c.7201C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354896.2:c.7255C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354897.2:c.7231C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354898.2:c.7126C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354899.2:c.7117C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354900.2:c.7078C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354901.2:c.7024C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354902.2:c.6928C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354903.2:c.6898C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354904.2:c.6823C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354905.2:c.6721C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354906.2:c.6352C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

6