ClinVar

NM_000038.6(APC):c.7794C>G (p.Thr2598=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

5q22.2

Genomic location:

• Chr5: 112843388 (on Assembly GRCh38)
• Chr5: 112179085 (on Assembly GRCh37)

Preferred name:

NM_000038.6(APC):c.7794C>G (p.Thr2598=)

HGVS:

• NC_000005.10:g.112843388C>G
• NG_008481.4:g.155868C>G
• NM_000038.6:c.7794C>GMANE SELECT
• NM_001127510.3:c.7794C>G
• NM_001127511.3:c.7740C>G
• NM_001354895.2:c.7794C>G
• NM_001354896.2:c.7848C>G
• NM_001354897.2:c.7824C>G
• NM_001354898.2:c.7719C>G
• NM_001354899.2:c.7710C>G
• NM_001354900.2:c.7671C>G
• NM_001354901.2:c.7617C>G
• NM_001354902.2:c.7521C>G
• NM_001354903.2:c.7491C>G
• NM_001354904.2:c.7416C>G
• NM_001354905.2:c.7314C>G
• NM_001354906.2:c.6945C>G
• NP_000029.2:p.Thr2598=
• NP_001120982.1:p.Thr2598=
• NP_001120983.2:p.Thr2580=
• NP_001341824.1:p.Thr2598=
• NP_001341825.1:p.Thr2616=
• NP_001341826.1:p.Thr2608=
• NP_001341827.1:p.Thr2573=
• NP_001341828.1:p.Thr2570=
• NP_001341829.1:p.Thr2557=
• NP_001341830.1:p.Thr2539=
• NP_001341831.1:p.Thr2507=
• NP_001341832.1:p.Thr2497=
• NP_001341833.1:p.Thr2472=
• NP_001341834.1:p.Thr2438=
• NP_001341835.1:p.Thr2315=
• LRG_130:g.155868C>G
• NC_000005.9:g.112179085C>G
• NM_000038.5:c.7794C>G

This HGVS expression did not pass validation

Links:

dbSNP: rs1554088662

NCBI 1000 Genomes Browser:

rs1554088662

Molecular consequence:

• NM_000038.6:c.7794C>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001127510.3:c.7794C>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001127511.3:c.7740C>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354895.2:c.7794C>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354896.2:c.7848C>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354897.2:c.7824C>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354898.2:c.7719C>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354899.2:c.7710C>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354900.2:c.7671C>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354901.2:c.7617C>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354902.2:c.7521C>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354903.2:c.7491C>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354904.2:c.7416C>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354905.2:c.7314C>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354906.2:c.6945C>G - synonymous variant - [Sequence Ontology: SO:0001819]