ClinVar

NM_000038.6(APC):c.6981C>A (p.Asn2327Lys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

5q22.2

Genomic location:

• Chr5: 112842575 (on Assembly GRCh38)
• Chr5: 112178272 (on Assembly GRCh37)

Preferred name:

NM_000038.6(APC):c.6981C>A (p.Asn2327Lys)

HGVS:

• NC_000005.10:g.112842575C>A
• NG_008481.4:g.155055C>A
• NM_000038.6:c.6981C>AMANE SELECT
• NM_001127510.3:c.6981C>A
• NM_001127511.3:c.6927C>A
• NM_001354895.2:c.6981C>A
• NM_001354896.2:c.7035C>A
• NM_001354897.2:c.7011C>A
• NM_001354898.2:c.6906C>A
• NM_001354899.2:c.6897C>A
• NM_001354900.2:c.6858C>A
• NM_001354901.2:c.6804C>A
• NM_001354902.2:c.6708C>A
• NM_001354903.2:c.6678C>A
• NM_001354904.2:c.6603C>A
• NM_001354905.2:c.6501C>A
• NM_001354906.2:c.6132C>A
• NP_000029.2:p.Asn2327Lys
• NP_001120982.1:p.Asn2327Lys
• NP_001120983.2:p.Asn2309Lys
• NP_001341824.1:p.Asn2327Lys
• NP_001341825.1:p.Asn2345Lys
• NP_001341826.1:p.Asn2337Lys
• NP_001341827.1:p.Asn2302Lys
• NP_001341828.1:p.Asn2299Lys
• NP_001341829.1:p.Asn2286Lys
• NP_001341830.1:p.Asn2268Lys
• NP_001341831.1:p.Asn2236Lys
• NP_001341832.1:p.Asn2226Lys
• NP_001341833.1:p.Asn2201Lys
• NP_001341834.1:p.Asn2167Lys
• NP_001341835.1:p.Asn2044Lys
• LRG_130:g.155055C>A
• NC_000005.9:g.112178272C>A
• NM_000038.5:c.6981C>A

This HGVS expression did not pass validation

Protein change:

N2044K

Links:

dbSNP: rs950286984

NCBI 1000 Genomes Browser:

rs950286984

Molecular consequence:

• NM_000038.6:c.6981C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127510.3:c.6981C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127511.3:c.6927C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354895.2:c.6981C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354896.2:c.7035C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354897.2:c.7011C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354898.2:c.6906C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354899.2:c.6897C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354900.2:c.6858C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354901.2:c.6804C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354902.2:c.6708C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354903.2:c.6678C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354904.2:c.6603C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354905.2:c.6501C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354906.2:c.6132C>A - missense variant - [Sequence Ontology: SO:0001583]