ClinVar

NM_000038.6(APC):c.4434_4437del (p.Arg1478fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

5q22.2

Genomic location:

• Chr5: 112840028 - 112840031 (on Assembly GRCh38)
• Chr5: 112175725 - 112175728 (on Assembly GRCh37)

Preferred name:

NM_000038.6(APC):c.4434_4437del (p.Arg1478fs)

HGVS:

• NC_000005.10:g.112840028_112840031del
• NG_008481.4:g.152508_152511del
• NM_000038.6:c.4434_4437delMANE SELECT
• NM_001127510.3:c.4434_4437del
• NM_001127511.3:c.4380_4383del
• NM_001354895.2:c.4434_4437del
• NM_001354896.2:c.4488_4491del
• NM_001354897.2:c.4464_4467del
• NM_001354898.2:c.4359_4362del
• NM_001354899.2:c.4350_4353del
• NM_001354900.2:c.4311_4314del
• NM_001354901.2:c.4257_4260del
• NM_001354902.2:c.4161_4164del
• NM_001354903.2:c.4131_4134del
• NM_001354904.2:c.4056_4059del
• NM_001354905.2:c.3954_3957del
• NM_001354906.2:c.3585_3588del
• NP_000029.2:p.Arg1478fs
• NP_001120982.1:p.Arg1478fs
• NP_001120983.2:p.Arg1460fs
• NP_001341824.1:p.Arg1478fs
• NP_001341825.1:p.Arg1496fs
• NP_001341826.1:p.Arg1488fs
• NP_001341827.1:p.Arg1453fs
• NP_001341828.1:p.Arg1450fs
• NP_001341829.1:p.Arg1437fs
• NP_001341830.1:p.Arg1419fs
• NP_001341831.1:p.Arg1387fs
• NP_001341832.1:p.Arg1377fs
• NP_001341833.1:p.Arg1352fs
• NP_001341834.1:p.Arg1318fs
• NP_001341835.1:p.Arg1195fs
• LRG_130:g.152508_152511del
• NC_000005.10:g.112840028_112840031delGGTC
• NC_000005.9:g.112175725_112175728del

This HGVS expression did not pass validation

Protein change:

R1195fs

Links:

dbSNP: rs2149914657

NCBI 1000 Genomes Browser:

rs2149914657

Molecular consequence:

• NM_000038.6:c.4434_4437del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001127510.3:c.4434_4437del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001127511.3:c.4380_4383del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001354895.2:c.4434_4437del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001354896.2:c.4488_4491del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001354897.2:c.4464_4467del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001354898.2:c.4359_4362del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001354899.2:c.4350_4353del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001354900.2:c.4311_4314del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001354901.2:c.4257_4260del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001354902.2:c.4161_4164del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001354903.2:c.4131_4134del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001354904.2:c.4056_4059del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001354905.2:c.3954_3957del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001354906.2:c.3585_3588del - frameshift variant - [Sequence Ontology: SO:0001589]