ClinVar

NM_004360.5(CDH1):c.2644G>A (p.Asp882Asn)

Gene:

CDH1:cadherin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q22.1

Genomic location:

• Chr16: 68833494 (on Assembly GRCh38)
• Chr16: 68867397 (on Assembly GRCh37)

Preferred name:

NM_004360.5(CDH1):c.2644G>A (p.Asp882Asn)

Other names:

p.D882N:GAC>AAC

HGVS:

• NC_000016.10:g.68833494G>A
• NG_008021.1:g.101203G>A
• NM_001317184.2:c.2461G>A
• NM_001317185.2:c.1096G>A
• NM_001317186.2:c.679G>A
• NM_004360.5:c.2644G>AMANE SELECT
• NP_001304113.1:p.Asp821Asn
• NP_001304114.1:p.Asp366Asn
• NP_001304115.1:p.Asp227Asn
• NP_004351.1:p.Asp882Asn
• LRG_301t1:c.2644G>A
• LRG_301:g.101203G>A
• NC_000016.9:g.68867397G>A
• NM_004360.3:c.2644G>A
• NM_004360.4:c.2644G>A
• p.D882N

This HGVS expression did not pass validation

Protein change:

D227N

Links:

dbSNP: rs200104963

NCBI 1000 Genomes Browser:

rs200104963

Molecular consequence:

• NM_001317184.2:c.2461G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001317185.2:c.1096G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001317186.2:c.679G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_004360.5:c.2644G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1