ClinVar

NM_004360.5(CDH1):c.2427T>A (p.Asn809Lys)

Gene:

CDH1:cadherin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q22.1

Genomic location:

• Chr16: 68829785 (on Assembly GRCh38)
• Chr16: 68863688 (on Assembly GRCh37)

Preferred name:

NM_004360.5(CDH1):c.2427T>A (p.Asn809Lys)

HGVS:

• NC_000016.10:g.68829785T>A
• NG_008021.1:g.97494T>A
• NM_001317184.2:c.2244T>A
• NM_001317185.2:c.879T>A
• NM_001317186.2:c.462T>A
• NM_004360.5:c.2427T>AMANE SELECT
• NP_001304113.1:p.Asn748Lys
• NP_001304114.1:p.Asn293Lys
• NP_001304115.1:p.Asn154Lys
• NP_004351.1:p.Asn809Lys
• LRG_301t1:c.2427T>A
• LRG_301:g.97494T>A
• NC_000016.9:g.68863688T>A
• NM_004360.3:c.2427T>A

This HGVS expression did not pass validation

Protein change:

N154K

Links:

dbSNP: rs772173832

NCBI 1000 Genomes Browser:

rs772173832

Molecular consequence:

• NM_001317184.2:c.2244T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001317185.2:c.879T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001317186.2:c.462T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_004360.5:c.2427T>A - missense variant - [Sequence Ontology: SO:0001583]