ClinVar

NM_000038.6(APC):c.6218G>A (p.Gly2073Asp)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

5q22.2

Genomic location:

• Chr5: 112841812 (on Assembly GRCh38)
• Chr5: 112177509 (on Assembly GRCh37)

Preferred name:

NM_000038.6(APC):c.6218G>A (p.Gly2073Asp)

HGVS:

• NC_000005.10:g.112841812G>A
• NG_008481.4:g.154292G>A
• NM_000038.6:c.6218G>AMANE SELECT
• NM_001127510.3:c.6218G>A
• NM_001127511.3:c.6164G>A
• NM_001354895.2:c.6218G>A
• NM_001354896.2:c.6272G>A
• NM_001354897.2:c.6248G>A
• NM_001354898.2:c.6143G>A
• NM_001354899.2:c.6134G>A
• NM_001354900.2:c.6095G>A
• NM_001354901.2:c.6041G>A
• NM_001354902.2:c.5945G>A
• NM_001354903.2:c.5915G>A
• NM_001354904.2:c.5840G>A
• NM_001354905.2:c.5738G>A
• NM_001354906.2:c.5369G>A
• NP_000029.2:p.Gly2073Asp
• NP_001120982.1:p.Gly2073Asp
• NP_001120983.2:p.Gly2055Asp
• NP_001341824.1:p.Gly2073Asp
• NP_001341825.1:p.Gly2091Asp
• NP_001341826.1:p.Gly2083Asp
• NP_001341827.1:p.Gly2048Asp
• NP_001341828.1:p.Gly2045Asp
• NP_001341829.1:p.Gly2032Asp
• NP_001341830.1:p.Gly2014Asp
• NP_001341831.1:p.Gly1982Asp
• NP_001341832.1:p.Gly1972Asp
• NP_001341833.1:p.Gly1947Asp
• NP_001341834.1:p.Gly1913Asp
• NP_001341835.1:p.Gly1790Asp
• LRG_130:g.154292G>A
• NC_000005.9:g.112177509G>A
• NM_000038.5:c.6218G>A

This HGVS expression did not pass validation

Protein change:

G1790D

Links:

dbSNP: rs1766164614

NCBI 1000 Genomes Browser:

rs1766164614

Molecular consequence:

• NM_000038.6:c.6218G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127510.3:c.6218G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127511.3:c.6164G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354895.2:c.6218G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354896.2:c.6272G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354897.2:c.6248G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354898.2:c.6143G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354899.2:c.6134G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354900.2:c.6095G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354901.2:c.6041G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354902.2:c.5945G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354903.2:c.5915G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354904.2:c.5840G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354905.2:c.5738G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354906.2:c.5369G>A - missense variant - [Sequence Ontology: SO:0001583]