ClinVar

NM_004360.5(CDH1):c.1697T>C (p.Ile566Thr)

Gene:

CDH1:cadherin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q22.1

Genomic location:

• Chr16: 68819411 (on Assembly GRCh38)
• Chr16: 68853314 (on Assembly GRCh37)

Preferred name:

NM_004360.5(CDH1):c.1697T>C (p.Ile566Thr)

HGVS:

• NC_000016.10:g.68819411T>C
• NG_008021.1:g.87120T>C
• NM_001317184.2:c.1514T>C
• NM_001317185.2:c.149T>C
• NM_001317186.2:c.-254-2590T>C
• NM_004360.5:c.1697T>CMANE SELECT
• NP_001304113.1:p.Ile505Thr
• NP_001304114.1:p.Ile50Thr
• NP_004351.1:p.Ile566Thr
• LRG_301t1:c.1697T>C
• LRG_301:g.87120T>C
• NC_000016.9:g.68853314T>C
• NM_004360.3:c.1697T>C
• NM_004360.4:c.1697T>C
• p.I566T

This HGVS expression did not pass validation

Protein change:

I505T

Links:

dbSNP: rs763292288

NCBI 1000 Genomes Browser:

rs763292288

Molecular consequence:

• NM_001317186.2:c.-254-2590T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001317184.2:c.1514T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001317185.2:c.149T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_004360.5:c.1697T>C - missense variant - [Sequence Ontology: SO:0001583]