ClinVar

NM_004360.5(CDH1):c.2369C>T (p.Thr790Ile)

Gene:

CDH1:cadherin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q22.1

Genomic location:

• Chr16: 68829727 (on Assembly GRCh38)
• Chr16: 68863630 (on Assembly GRCh37)

Preferred name:

NM_004360.5(CDH1):c.2369C>T (p.Thr790Ile)

Other names:

p.T790I:ACC>ATC

HGVS:

• NC_000016.10:g.68829727C>T
• NG_008021.1:g.97436C>T
• NM_001317184.2:c.2186C>T
• NM_001317185.2:c.821C>T
• NM_001317186.2:c.404C>T
• NM_004360.5:c.2369C>TMANE SELECT
• NP_001304113.1:p.Thr729Ile
• NP_001304114.1:p.Thr274Ile
• NP_001304115.1:p.Thr135Ile
• NP_004351.1:p.Thr790Ile
• LRG_301t1:c.2369C>T
• LRG_301:g.97436C>T
• NC_000016.9:g.68863630C>T
• NM_004360.3:c.2369C>T
• NM_004360.4:c.2369C>T
• p.T790I

This HGVS expression did not pass validation

Protein change:

T135I

Links:

dbSNP: rs587780120

NCBI 1000 Genomes Browser:

rs587780120

Molecular consequence:

• NM_001317184.2:c.2186C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001317185.2:c.821C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001317186.2:c.404C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_004360.5:c.2369C>T - missense variant - [Sequence Ontology: SO:0001583]