ClinVar

NM_004360.5(CDH1):c.1711G>A (p.Gly571Ser)

Gene:

CDH1:cadherin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q22.1

Genomic location:

• Chr16: 68819425 (on Assembly GRCh38)
• Chr16: 68853328 (on Assembly GRCh37)

Preferred name:

NM_004360.5(CDH1):c.1711G>A (p.Gly571Ser)

HGVS:

• NC_000016.10:g.68819425G>A
• NG_008021.1:g.87134G>A
• NM_001317184.2:c.1528G>A
• NM_001317185.2:c.163G>A
• NM_001317186.2:c.-254-2576G>A
• NM_004360.5:c.1711G>AMANE SELECT
• NP_001304113.1:p.Gly510Ser
• NP_001304114.1:p.Gly55Ser
• NP_004351.1:p.Gly571Ser
• LRG_301t1:c.1711G>A
• LRG_301:g.87134G>A
• NC_000016.9:g.68853328G>A
• NM_004360.3:c.1711G>A
• p.G571S
• p.Gly571Ser

This HGVS expression did not pass validation

Protein change:

G510S

Links:

dbSNP: rs786202290

NCBI 1000 Genomes Browser:

rs786202290

Molecular consequence:

• NM_001317186.2:c.-254-2576G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001317184.2:c.1528G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001317185.2:c.163G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_004360.5:c.1711G>A - missense variant - [Sequence Ontology: SO:0001583]