ClinVar

NM_000038.6(APC):c.7074C>T (p.Ser2358=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

5q22.2

Genomic location:

• Chr5: 112842668 (on Assembly GRCh38)
• Chr5: 112178365 (on Assembly GRCh37)

Preferred name:

NM_000038.6(APC):c.7074C>T (p.Ser2358=)

HGVS:

• NC_000005.10:g.112842668C>T
• NG_008481.4:g.155148C>T
• NM_000038.6:c.7074C>TMANE SELECT
• NM_001127510.3:c.7074C>T
• NM_001127511.3:c.7020C>T
• NM_001354895.2:c.7074C>T
• NM_001354896.2:c.7128C>T
• NM_001354897.2:c.7104C>T
• NM_001354898.2:c.6999C>T
• NM_001354899.2:c.6990C>T
• NM_001354900.2:c.6951C>T
• NM_001354901.2:c.6897C>T
• NM_001354902.2:c.6801C>T
• NM_001354903.2:c.6771C>T
• NM_001354904.2:c.6696C>T
• NM_001354905.2:c.6594C>T
• NM_001354906.2:c.6225C>T
• NP_000029.2:p.Ser2358=
• NP_001120982.1:p.Ser2358=
• NP_001120983.2:p.Ser2340=
• NP_001341824.1:p.Ser2358=
• NP_001341825.1:p.Ser2376=
• NP_001341826.1:p.Ser2368=
• NP_001341827.1:p.Ser2333=
• NP_001341828.1:p.Ser2330=
• NP_001341829.1:p.Ser2317=
• NP_001341830.1:p.Ser2299=
• NP_001341831.1:p.Ser2267=
• NP_001341832.1:p.Ser2257=
• NP_001341833.1:p.Ser2232=
• NP_001341834.1:p.Ser2198=
• NP_001341835.1:p.Ser2075=
• LRG_130:g.155148C>T
• NC_000005.9:g.112178365C>T
• NM_000038.5:c.7074C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs1554087974

NCBI 1000 Genomes Browser:

rs1554087974

Molecular consequence:

• NM_000038.6:c.7074C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001127510.3:c.7074C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001127511.3:c.7020C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354895.2:c.7074C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354896.2:c.7128C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354897.2:c.7104C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354898.2:c.6999C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354899.2:c.6990C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354900.2:c.6951C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354901.2:c.6897C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354902.2:c.6801C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354903.2:c.6771C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354904.2:c.6696C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354905.2:c.6594C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354906.2:c.6225C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

2