ClinVar

NM_000038.6(APC):c.6907G>T (p.Gly2303Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

5q22.2

Genomic location:

• Chr5: 112842501 (on Assembly GRCh38)
• Chr5: 112178198 (on Assembly GRCh37)

Preferred name:

NM_000038.6(APC):c.6907G>T (p.Gly2303Ter)

HGVS:

• NC_000005.10:g.112842501G>T
• NG_008481.4:g.154981G>T
• NM_000038.6:c.6907G>TMANE SELECT
• NM_001127510.3:c.6907G>T
• NM_001127511.3:c.6853G>T
• NM_001354895.2:c.6907G>T
• NM_001354896.2:c.6961G>T
• NM_001354897.2:c.6937G>T
• NM_001354898.2:c.6832G>T
• NM_001354899.2:c.6823G>T
• NM_001354900.2:c.6784G>T
• NM_001354901.2:c.6730G>T
• NM_001354902.2:c.6634G>T
• NM_001354903.2:c.6604G>T
• NM_001354904.2:c.6529G>T
• NM_001354905.2:c.6427G>T
• NM_001354906.2:c.6058G>T
• NP_000029.2:p.Gly2303Ter
• NP_001120982.1:p.Gly2303Ter
• NP_001120983.2:p.Gly2285Ter
• NP_001341824.1:p.Gly2303Ter
• NP_001341825.1:p.Gly2321Ter
• NP_001341826.1:p.Gly2313Ter
• NP_001341827.1:p.Gly2278Ter
• NP_001341828.1:p.Gly2275Ter
• NP_001341829.1:p.Gly2262Ter
• NP_001341830.1:p.Gly2244Ter
• NP_001341831.1:p.Gly2212Ter
• NP_001341832.1:p.Gly2202Ter
• NP_001341833.1:p.Gly2177Ter
• NP_001341834.1:p.Gly2143Ter
• NP_001341835.1:p.Gly2020Ter
• LRG_130:g.154981G>T
• NC_000005.9:g.112178198G>T

This HGVS expression did not pass validation

Protein change:

G2020*

Links:

dbSNP: rs544549596

NCBI 1000 Genomes Browser:

rs544549596

Molecular consequence:

• NM_000038.6:c.6907G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001127510.3:c.6907G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001127511.3:c.6853G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001354895.2:c.6907G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001354896.2:c.6961G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001354897.2:c.6937G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001354898.2:c.6832G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001354899.2:c.6823G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001354900.2:c.6784G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001354901.2:c.6730G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001354902.2:c.6634G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001354903.2:c.6604G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001354904.2:c.6529G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001354905.2:c.6427G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001354906.2:c.6058G>T - nonsense - [Sequence Ontology: SO:0001587]