ClinVar

NM_004360.5(CDH1):c.2635G>A (p.Gly879Ser)

Gene:

CDH1:cadherin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q22.1

Genomic location:

• Chr16: 68833485 (on Assembly GRCh38)
• Chr16: 68867388 (on Assembly GRCh37)

Preferred name:

NM_004360.5(CDH1):c.2635G>A (p.Gly879Ser)

Other names:

p.G879S:GGC>AGC

HGVS:

• NC_000016.10:g.68833485G>A
• NG_008021.1:g.101194G>A
• NM_001317184.2:c.2452G>A
• NM_001317185.2:c.1087G>A
• NM_001317186.2:c.670G>A
• NM_004360.5:c.2635G>AMANE SELECT
• NP_001304113.1:p.Gly818Ser
• NP_001304114.1:p.Gly363Ser
• NP_001304115.1:p.Gly224Ser
• NP_004351.1:p.Gly879Ser
• LRG_301t1:c.2635G>A
• LRG_301:g.101194G>A
• NC_000016.9:g.68867388G>A
• NM_004360.3:c.2635G>A
• NM_004360.4:c.2635G>A
• p.G879S
• NM_004360.4(CDH1):c.2635G>A

This HGVS expression did not pass validation

Protein change:

G224S

Links:

dbSNP: rs200911775

NCBI 1000 Genomes Browser:

rs200911775

Molecular consequence:

• NM_001317184.2:c.2452G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001317185.2:c.1087G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001317186.2:c.670G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_004360.5:c.2635G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

2