ClinVar

NM_004360.5(CDH1):c.2398C>T (p.Arg800Cys)

Gene:

CDH1:cadherin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q22.1

Genomic location:

• Chr16: 68829756 (on Assembly GRCh38)
• Chr16: 68863659 (on Assembly GRCh37)

Preferred name:

NM_004360.5(CDH1):c.2398C>T (p.Arg800Cys)

HGVS:

• NC_000016.10:g.68829756C>T
• NG_008021.1:g.97465C>T
• NM_001317184.2:c.2215C>T
• NM_001317185.2:c.850C>T
• NM_001317186.2:c.433C>T
• NM_004360.5:c.2398C>TMANE SELECT
• NP_001304113.1:p.Arg739Cys
• NP_001304114.1:p.Arg284Cys
• NP_001304115.1:p.Arg145Cys
• NP_004351.1:p.Arg800Cys
• LRG_301t1:c.2398C>T
• LRG_301:g.97465C>T
• NC_000016.9:g.68863659C>T
• NM_004360.3:c.2398C>T
• NM_004360.4:c.2398C>T
• p.R800C

This HGVS expression did not pass validation

Protein change:

R145C

Links:

dbSNP: rs587782162

NCBI 1000 Genomes Browser:

rs587782162

Molecular consequence:

• NM_001317184.2:c.2215C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001317185.2:c.850C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001317186.2:c.433C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_004360.5:c.2398C>T - missense variant - [Sequence Ontology: SO:0001583]