ClinVar

NM_004360.5(CDH1):c.2318A>G (p.His773Arg)

Gene:

CDH1:cadherin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q22.1

Genomic location:

• Chr16: 68829676 (on Assembly GRCh38)
• Chr16: 68863579 (on Assembly GRCh37)

Preferred name:

NM_004360.5(CDH1):c.2318A>G (p.His773Arg)

Other names:

p.H773R:CAC>CGC

HGVS:

• NC_000016.10:g.68829676A>G
• NG_008021.1:g.97385A>G
• NM_001317184.2:c.2135A>G
• NM_001317185.2:c.770A>G
• NM_001317186.2:c.353A>G
• NM_004360.5:c.2318A>GMANE SELECT
• NP_001304113.1:p.His712Arg
• NP_001304114.1:p.His257Arg
• NP_001304115.1:p.His118Arg
• NP_004351.1:p.His773Arg
• LRG_301t1:c.2318A>G
• LRG_301:g.97385A>G
• NC_000016.9:g.68863579A>G
• NM_004360.3:c.2318A>G
• NM_004360.4:c.2318A>G
• p.H773R

This HGVS expression did not pass validation

Protein change:

H118R

Links:

dbSNP: rs587782823

NCBI 1000 Genomes Browser:

rs587782823

Molecular consequence:

• NM_001317184.2:c.2135A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001317185.2:c.770A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001317186.2:c.353A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_004360.5:c.2318A>G - missense variant - [Sequence Ontology: SO:0001583]