ClinVar

NM_000038.6(APC):c.7209G>A (p.Gln2403=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

5q22.2

Genomic location:

• Chr5: 112842803 (on Assembly GRCh38)
• Chr5: 112178500 (on Assembly GRCh37)

Preferred name:

NM_000038.6(APC):c.7209G>A (p.Gln2403=)

HGVS:

• NC_000005.10:g.112842803G>A
• NG_008481.4:g.155283G>A
• NM_000038.6:c.7209G>AMANE SELECT
• NM_001127510.3:c.7209G>A
• NM_001127511.3:c.7155G>A
• NM_001354895.2:c.7209G>A
• NM_001354896.2:c.7263G>A
• NM_001354897.2:c.7239G>A
• NM_001354898.2:c.7134G>A
• NM_001354899.2:c.7125G>A
• NM_001354900.2:c.7086G>A
• NM_001354901.2:c.7032G>A
• NM_001354902.2:c.6936G>A
• NM_001354903.2:c.6906G>A
• NM_001354904.2:c.6831G>A
• NM_001354905.2:c.6729G>A
• NM_001354906.2:c.6360G>A
• NP_000029.2:p.Gln2403=
• NP_001120982.1:p.Gln2403=
• NP_001120983.2:p.Gln2385=
• NP_001341824.1:p.Gln2403=
• NP_001341825.1:p.Gln2421=
• NP_001341826.1:p.Gln2413=
• NP_001341827.1:p.Gln2378=
• NP_001341828.1:p.Gln2375=
• NP_001341829.1:p.Gln2362=
• NP_001341830.1:p.Gln2344=
• NP_001341831.1:p.Gln2312=
• NP_001341832.1:p.Gln2302=
• NP_001341833.1:p.Gln2277=
• NP_001341834.1:p.Gln2243=
• NP_001341835.1:p.Gln2120=
• LRG_130t1:c.7209G>A
• LRG_130:g.155283G>A
• NC_000005.9:g.112178500G>A
• NM_000038.4:c.7209G>A
• NM_000038.5:c.7209G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs769603145

NCBI 1000 Genomes Browser:

rs769603145

Molecular consequence:

• NM_000038.6:c.7209G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001127510.3:c.7209G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001127511.3:c.7155G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354895.2:c.7209G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354896.2:c.7263G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354897.2:c.7239G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354898.2:c.7134G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354899.2:c.7125G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354900.2:c.7086G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354901.2:c.7032G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354902.2:c.6936G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354903.2:c.6906G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354904.2:c.6831G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354905.2:c.6729G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354906.2:c.6360G>A - synonymous variant - [Sequence Ontology: SO:0001819]