ClinVar

NM_000038.6(APC):c.7095A>G (p.Ser2365=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

5q22.2

Genomic location:

• Chr5: 112842689 (on Assembly GRCh38)
• Chr5: 112178386 (on Assembly GRCh37)

Preferred name:

NM_000038.6(APC):c.7095A>G (p.Ser2365=)

HGVS:

• NC_000005.10:g.112842689A>G
• NG_008481.4:g.155169A>G
• NM_000038.6:c.7095A>GMANE SELECT
• NM_001127510.3:c.7095A>G
• NM_001127511.3:c.7041A>G
• NM_001354895.2:c.7095A>G
• NM_001354896.2:c.7149A>G
• NM_001354897.2:c.7125A>G
• NM_001354898.2:c.7020A>G
• NM_001354899.2:c.7011A>G
• NM_001354900.2:c.6972A>G
• NM_001354901.2:c.6918A>G
• NM_001354902.2:c.6822A>G
• NM_001354903.2:c.6792A>G
• NM_001354904.2:c.6717A>G
• NM_001354905.2:c.6615A>G
• NM_001354906.2:c.6246A>G
• NP_000029.2:p.Ser2365=
• NP_001120982.1:p.Ser2365=
• NP_001120983.2:p.Ser2347=
• NP_001341824.1:p.Ser2365=
• NP_001341825.1:p.Ser2383=
• NP_001341826.1:p.Ser2375=
• NP_001341827.1:p.Ser2340=
• NP_001341828.1:p.Ser2337=
• NP_001341829.1:p.Ser2324=
• NP_001341830.1:p.Ser2306=
• NP_001341831.1:p.Ser2274=
• NP_001341832.1:p.Ser2264=
• NP_001341833.1:p.Ser2239=
• NP_001341834.1:p.Ser2205=
• NP_001341835.1:p.Ser2082=
• LRG_130:g.155169A>G
• NC_000005.9:g.112178386A>G
• NM_000038.5:c.7095A>G

This HGVS expression did not pass validation

Links:

dbSNP: rs747844776

NCBI 1000 Genomes Browser:

rs747844776

Molecular consequence:

• NM_000038.6:c.7095A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001127510.3:c.7095A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001127511.3:c.7041A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354895.2:c.7095A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354896.2:c.7149A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354897.2:c.7125A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354898.2:c.7020A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354899.2:c.7011A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354900.2:c.6972A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354901.2:c.6918A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354902.2:c.6822A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354903.2:c.6792A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354904.2:c.6717A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354905.2:c.6615A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354906.2:c.6246A>G - synonymous variant - [Sequence Ontology: SO:0001819]