ClinVar

NM_004360.5(CDH1):c.2603G>A (p.Arg868His)

Gene:

CDH1:cadherin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q22.1

Genomic location:

• Chr16: 68833453 (on Assembly GRCh38)
• Chr16: 68867356 (on Assembly GRCh37)

Preferred name:

NM_004360.5(CDH1):c.2603G>A (p.Arg868His)

HGVS:

• NC_000016.10:g.68833453G>A
• NG_008021.1:g.101162G>A
• NM_001317184.2:c.2420G>A
• NM_001317185.2:c.1055G>A
• NM_001317186.2:c.638G>A
• NM_004360.5:c.2603G>AMANE SELECT
• NP_001304113.1:p.Arg807His
• NP_001304114.1:p.Arg352His
• NP_001304115.1:p.Arg213His
• NP_004351.1:p.Arg868His
• LRG_301t1:c.2603G>A
• LRG_301:g.101162G>A
• NC_000016.9:g.68867356G>A
• NM_001317185.1:c.1055G>A
• NM_004360.3:c.2603G>A
• NM_004360.4:c.2603G>A

This HGVS expression did not pass validation

Protein change:

R213H

Links:

dbSNP: rs369126891

NCBI 1000 Genomes Browser:

rs369126891

Molecular consequence:

• NM_001317184.2:c.2420G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001317185.2:c.1055G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001317186.2:c.638G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_004360.5:c.2603G>A - missense variant - [Sequence Ontology: SO:0001583]