ClinVar

NM_004360.5(CDH1):c.2590G>A (p.Glu864Lys)

Gene:

CDH1:cadherin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q22.1

Genomic location:

• Chr16: 68833440 (on Assembly GRCh38)
• Chr16: 68867343 (on Assembly GRCh37)

Preferred name:

NM_004360.5(CDH1):c.2590G>A (p.Glu864Lys)

HGVS:

• NC_000016.10:g.68833440G>A
• NG_008021.1:g.101149G>A
• NM_001317184.2:c.2407G>A
• NM_001317185.2:c.1042G>A
• NM_001317186.2:c.625G>A
• NM_004360.5:c.2590G>AMANE SELECT
• NP_001304113.1:p.Glu803Lys
• NP_001304114.1:p.Glu348Lys
• NP_001304115.1:p.Glu209Lys
• NP_004351.1:p.Glu864Lys
• LRG_301t1:c.2590G>A
• LRG_301:g.101149G>A
• NC_000016.9:g.68867343G>A
• NM_004360.3:c.2590G>A
• NM_004360.4:c.2590G>A

This HGVS expression did not pass validation

Protein change:

E209K

Links:

dbSNP: rs142927667

NCBI 1000 Genomes Browser:

rs142927667

Molecular consequence:

• NM_001317184.2:c.2407G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001317185.2:c.1042G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001317186.2:c.625G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_004360.5:c.2590G>A - missense variant - [Sequence Ontology: SO:0001583]