ClinVar

NM_004360.5(CDH1):c.2595G>C (p.Trp865Cys)

Gene:

CDH1:cadherin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q22.1

Genomic location:

• Chr16: 68833445 (on Assembly GRCh38)
• Chr16: 68867348 (on Assembly GRCh37)

Preferred name:

NM_004360.5(CDH1):c.2595G>C (p.Trp865Cys)

HGVS:

• NC_000016.10:g.68833445G>C
• NG_008021.1:g.101154G>C
• NM_001317184.2:c.2412G>C
• NM_001317185.2:c.1047G>C
• NM_001317186.2:c.630G>C
• NM_004360.5:c.2595G>CMANE SELECT
• NP_001304113.1:p.Trp804Cys
• NP_001304114.1:p.Trp349Cys
• NP_001304115.1:p.Trp210Cys
• NP_004351.1:p.Trp865Cys
• LRG_301t1:c.2595G>C
• LRG_301:g.101154G>C
• NC_000016.9:g.68867348G>C
• NM_004360.3:c.2595G>C
• NM_004360.4:c.2595G>C

This HGVS expression did not pass validation

Protein change:

W210C

Links:

dbSNP: rs778019174

NCBI 1000 Genomes Browser:

rs778019174

Molecular consequence:

• NM_001317184.2:c.2412G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001317185.2:c.1047G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001317186.2:c.630G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_004360.5:c.2595G>C - missense variant - [Sequence Ontology: SO:0001583]