ClinVar

NM_004360.5(CDH1):c.2560G>A (p.Asp854Asn)

Gene:

CDH1:cadherin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q22.1

Genomic location:

• Chr16: 68833410 (on Assembly GRCh38)
• Chr16: 68867313 (on Assembly GRCh37)

Preferred name:

NM_004360.5(CDH1):c.2560G>A (p.Asp854Asn)

HGVS:

• NC_000016.10:g.68833410G>A
• NG_008021.1:g.101119G>A
• NM_001317184.2:c.2377G>A
• NM_001317185.2:c.1012G>A
• NM_001317186.2:c.595G>A
• NM_004360.5:c.2560G>AMANE SELECT
• NP_001304113.1:p.Asp793Asn
• NP_001304114.1:p.Asp338Asn
• NP_001304115.1:p.Asp199Asn
• NP_004351.1:p.Asp854Asn
• LRG_301t1:c.2560G>A
• LRG_301:g.101119G>A
• NC_000016.9:g.68867313G>A
• NM_004360.3:c.2560G>A
• NM_004360.4:c.2560G>A

This HGVS expression did not pass validation

Protein change:

D199N

Links:

dbSNP: rs1555518257

NCBI 1000 Genomes Browser:

rs1555518257

Molecular consequence:

• NM_001317184.2:c.2377G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001317185.2:c.1012G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001317186.2:c.595G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_004360.5:c.2560G>A - missense variant - [Sequence Ontology: SO:0001583]