ClinVar

NM_004360.5(CDH1):c.2413G>A (p.Asp805Asn)

Gene:

CDH1:cadherin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q22.1

Genomic location:

• Chr16: 68829771 (on Assembly GRCh38)
• Chr16: 68863674 (on Assembly GRCh37)

Preferred name:

NM_004360.5(CDH1):c.2413G>A (p.Asp805Asn)

Other names:

p.D805N:GAT>AAT; NM_004360.4(CDH1):c.2413G>A

HGVS:

• NC_000016.10:g.68829771G>A
• NG_008021.1:g.97480G>A
• NM_001317184.2:c.2230G>A
• NM_001317185.2:c.865G>A
• NM_001317186.2:c.448G>A
• NM_004360.5:c.2413G>AMANE SELECT
• NP_001304113.1:p.Asp744Asn
• NP_001304114.1:p.Asp289Asn
• NP_001304115.1:p.Asp150Asn
• NP_004351.1:p.Asp805Asn
• LRG_301t1:c.2413G>A
• LRG_301:g.97480G>A
• NC_000016.9:g.68863674G>A
• NM_004360.3:c.2413G>A
• NM_004360.4:c.2413G>A
• p.D805N

This HGVS expression did not pass validation

Protein change:

D150N

Links:

dbSNP: rs200894246

NCBI 1000 Genomes Browser:

rs200894246

Molecular consequence:

• NM_001317184.2:c.2230G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001317185.2:c.865G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001317186.2:c.448G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_004360.5:c.2413G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1