ClinVar

NM_004360.5(CDH1):c.261G>C (p.Arg87Ser)

Gene:

CDH1:cadherin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q22.1

Genomic location:

• Chr16: 68801767 (on Assembly GRCh38)
• Chr16: 68835670 (on Assembly GRCh37)

Preferred name:

NM_004360.5(CDH1):c.261G>C (p.Arg87Ser)

HGVS:

• NC_000016.10:g.68801767G>C
• NG_008021.1:g.69476G>C
• NM_001317184.2:c.261G>C
• NM_001317185.2:c.-1355G>C
• NM_001317186.2:c.-1559G>C
• NM_004360.5:c.261G>CMANE SELECT
• NP_001304113.1:p.Arg87Ser
• NP_004351.1:p.Arg87Ser
• LRG_301t1:c.261G>C
• LRG_301:g.69476G>C
• NC_000016.9:g.68835670G>C
• NM_004360.3:c.261G>C
• NM_004360.4:c.261G>C

This HGVS expression did not pass validation

Protein change:

R87S

Links:

dbSNP: rs878854689

NCBI 1000 Genomes Browser:

rs878854689

Molecular consequence:

• NM_001317185.2:c.-1355G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001317186.2:c.-1559G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001317184.2:c.261G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_004360.5:c.261G>C - missense variant - [Sequence Ontology: SO:0001583]