ClinVar

NM_000038.6(APC):c.7696A>C (p.Arg2566=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

5q22.2

Genomic location:

• Chr5: 112843290 (on Assembly GRCh38)
• Chr5: 112178987 (on Assembly GRCh37)

Preferred name:

NM_000038.6(APC):c.7696A>C (p.Arg2566=)

HGVS:

• NC_000005.10:g.112843290A>C
• NG_008481.4:g.155770A>C
• NM_000038.6:c.7696A>CMANE SELECT
• NM_001127510.3:c.7696A>C
• NM_001127511.3:c.7642A>C
• NM_001354895.2:c.7696A>C
• NM_001354896.2:c.7750A>C
• NM_001354897.2:c.7726A>C
• NM_001354898.2:c.7621A>C
• NM_001354899.2:c.7612A>C
• NM_001354900.2:c.7573A>C
• NM_001354901.2:c.7519A>C
• NM_001354902.2:c.7423A>C
• NM_001354903.2:c.7393A>C
• NM_001354904.2:c.7318A>C
• NM_001354905.2:c.7216A>C
• NM_001354906.2:c.6847A>C
• NP_000029.2:p.Arg2566=
• NP_001120982.1:p.Arg2566=
• NP_001120983.2:p.Arg2548=
• NP_001341824.1:p.Arg2566=
• NP_001341825.1:p.Arg2584=
• NP_001341826.1:p.Arg2576=
• NP_001341827.1:p.Arg2541=
• NP_001341828.1:p.Arg2538=
• NP_001341829.1:p.Arg2525=
• NP_001341830.1:p.Arg2507=
• NP_001341831.1:p.Arg2475=
• NP_001341832.1:p.Arg2465=
• NP_001341833.1:p.Arg2440=
• NP_001341834.1:p.Arg2406=
• NP_001341835.1:p.Arg2283=
• LRG_130:g.155770A>C
• NC_000005.9:g.112178987A>C
• NM_000038.5:c.7696A>C

This HGVS expression did not pass validation

Links:

dbSNP: rs1060504883

NCBI 1000 Genomes Browser:

rs1060504883

Molecular consequence:

• NM_000038.6:c.7696A>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001127510.3:c.7696A>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001127511.3:c.7642A>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354895.2:c.7696A>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354896.2:c.7750A>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354897.2:c.7726A>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354898.2:c.7621A>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354899.2:c.7612A>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354900.2:c.7573A>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354901.2:c.7519A>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354902.2:c.7423A>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354903.2:c.7393A>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354904.2:c.7318A>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354905.2:c.7216A>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354906.2:c.6847A>C - synonymous variant - [Sequence Ontology: SO:0001819]