ClinVar

NM_000038.6(APC):c.5801C>T (p.Pro1934Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

5q22.2

Genomic location:

• Chr5: 112841395 (on Assembly GRCh38)
• Chr5: 112177092 (on Assembly GRCh37)

Preferred name:

NM_000038.6(APC):c.5801C>T (p.Pro1934Leu)

Other names:

p.P1934L:CCC>CTC

HGVS:

• NC_000005.10:g.112841395C>T
• NG_008481.4:g.153875C>T
• NM_000038.6:c.5801C>TMANE SELECT
• NM_001127510.3:c.5801C>T
• NM_001127511.3:c.5747C>T
• NM_001354895.2:c.5801C>T
• NM_001354896.2:c.5855C>T
• NM_001354897.2:c.5831C>T
• NM_001354898.2:c.5726C>T
• NM_001354899.2:c.5717C>T
• NM_001354900.2:c.5678C>T
• NM_001354901.2:c.5624C>T
• NM_001354902.2:c.5528C>T
• NM_001354903.2:c.5498C>T
• NM_001354904.2:c.5423C>T
• NM_001354905.2:c.5321C>T
• NM_001354906.2:c.4952C>T
• NP_000029.2:p.Pro1934Leu
• NP_001120982.1:p.Pro1934Leu
• NP_001120983.2:p.Pro1916Leu
• NP_001341824.1:p.Pro1934Leu
• NP_001341825.1:p.Pro1952Leu
• NP_001341826.1:p.Pro1944Leu
• NP_001341827.1:p.Pro1909Leu
• NP_001341828.1:p.Pro1906Leu
• NP_001341829.1:p.Pro1893Leu
• NP_001341830.1:p.Pro1875Leu
• NP_001341831.1:p.Pro1843Leu
• NP_001341832.1:p.Pro1833Leu
• NP_001341833.1:p.Pro1808Leu
• NP_001341834.1:p.Pro1774Leu
• NP_001341835.1:p.Pro1651Leu
• LRG_130t1:c.5801C>T
• LRG_130:g.153875C>T
• NC_000005.9:g.112177092C>T
• NM_000038.4:c.5801C>T
• NM_000038.5:c.5801C>T
• p.P1934L

This HGVS expression did not pass validation

Protein change:

P1651L

Links:

dbSNP: rs587780600

NCBI 1000 Genomes Browser:

rs587780600

Molecular consequence:

• NM_000038.6:c.5801C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127510.3:c.5801C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127511.3:c.5747C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354895.2:c.5801C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354896.2:c.5855C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354897.2:c.5831C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354898.2:c.5726C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354899.2:c.5717C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354900.2:c.5678C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354901.2:c.5624C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354902.2:c.5528C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354903.2:c.5498C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354904.2:c.5423C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354905.2:c.5321C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354906.2:c.4952C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

5