ClinVar

NM_004360.5(CDH1):c.2343A>T (p.Glu781Asp)

Gene:

CDH1:cadherin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q22.1

Genomic location:

• Chr16: 68829701 (on Assembly GRCh38)
• Chr16: 68863604 (on Assembly GRCh37)

Preferred name:

NM_004360.5(CDH1):c.2343A>T (p.Glu781Asp)

HGVS:

• NC_000016.10:g.68829701A>T
• NG_008021.1:g.97410A>T
• NM_001317184.2:c.2160A>T
• NM_001317185.2:c.795A>T
• NM_001317186.2:c.378A>T
• NM_004360.5:c.2343A>TMANE SELECT
• NP_001304113.1:p.Glu720Asp
• NP_001304114.1:p.Glu265Asp
• NP_001304115.1:p.Glu126Asp
• NP_004351.1:p.Glu781Asp
• LRG_301t1:c.2343A>T
• LRG_301:g.97410A>T
• NC_000016.9:g.68863604A>T
• NM_004360.3:c.2343A>T
• NM_004360.4(CDH1):c.2343A>T
• NM_004360.4:c.2343A>T
• p.E781D

This HGVS expression did not pass validation

Protein change:

E126D

Links:

dbSNP: rs587780119

NCBI 1000 Genomes Browser:

rs587780119

Molecular consequence:

• NM_001317184.2:c.2160A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001317185.2:c.795A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001317186.2:c.378A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_004360.5:c.2343A>T - missense variant - [Sequence Ontology: SO:0001583]