ClinVar

NM_004360.5(CDH1):c.2597G>T (p.Gly866Val)

Gene:

CDH1:cadherin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q22.1

Genomic location:

• Chr16: 68833447 (on Assembly GRCh38)
• Chr16: 68867350 (on Assembly GRCh37)

Preferred name:

NM_004360.5(CDH1):c.2597G>T (p.Gly866Val)

HGVS:

• NC_000016.10:g.68833447G>T
• NG_008021.1:g.101156G>T
• NM_001317184.2:c.2414G>T
• NM_001317185.2:c.1049G>T
• NM_001317186.2:c.632G>T
• NM_004360.5:c.2597G>TMANE SELECT
• NP_001304113.1:p.Gly805Val
• NP_001304114.1:p.Gly350Val
• NP_001304115.1:p.Gly211Val
• NP_004351.1:p.Gly866Val
• LRG_301t1:c.2597G>T
• LRG_301:g.101156G>T
• NC_000016.9:g.68867350G>T
• NM_004360.3:c.2597G>T

This HGVS expression did not pass validation

Protein change:

G211V

Links:

dbSNP: rs1410318220

NCBI 1000 Genomes Browser:

rs1410318220

Molecular consequence:

• NM_001317184.2:c.2414G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001317185.2:c.1049G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001317186.2:c.632G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_004360.5:c.2597G>T - missense variant - [Sequence Ontology: SO:0001583]