ClinVar

NM_004360.5(CDH1):c.2602C>T (p.Arg868Cys)

Gene:

CDH1:cadherin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q22.1

Genomic location:

• Chr16: 68833452 (on Assembly GRCh38)
• Chr16: 68867355 (on Assembly GRCh37)

Preferred name:

NM_004360.5(CDH1):c.2602C>T (p.Arg868Cys)

HGVS:

• NC_000016.10:g.68833452C>T
• NG_008021.1:g.101161C>T
• NM_001317184.2:c.2419C>T
• NM_001317185.2:c.1054C>T
• NM_001317186.2:c.637C>T
• NM_004360.5:c.2602C>TMANE SELECT
• NP_001304113.1:p.Arg807Cys
• NP_001304114.1:p.Arg352Cys
• NP_001304115.1:p.Arg213Cys
• NP_004351.1:p.Arg868Cys
• LRG_301t1:c.2602C>T
• LRG_301:g.101161C>T
• NC_000016.9:g.68867355C>T
• NM_004360.3:c.2602C>T
• NM_004360.4:c.2602C>T

This HGVS expression did not pass validation

Protein change:

R213C

Links:

dbSNP: rs864622630

NCBI 1000 Genomes Browser:

rs864622630

Molecular consequence:

• NM_001317184.2:c.2419C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001317185.2:c.1054C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001317186.2:c.637C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_004360.5:c.2602C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1