ClinVar

NM_004360.5(CDH1):c.1003C>T (p.Arg335Ter)

Gene:

CDH1:cadherin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q22.1

Genomic location:

• Chr16: 68811854 (on Assembly GRCh38)
• Chr16: 68845757 (on Assembly GRCh37)

Preferred name:

NM_004360.5(CDH1):c.1003C>T (p.Arg335Ter)

Other names:

NM_004360.4(CDH1):c.1003C>T

HGVS:

• NC_000016.10:g.68811854C>T
• NG_008021.1:g.79563C>T
• NM_001317184.2:c.1003C>T
• NM_001317185.2:c.-613C>T
• NM_001317186.2:c.-817C>T
• NM_004360.5:c.1003C>TMANE SELECT
• NP_001304113.1:p.Arg335Ter
• NP_004351.1:p.Arg335Ter
• LRG_301t1:c.1003C>T
• LRG_301:g.79563C>T
• NC_000016.9:g.68845757C>T
• NM_004360.3:c.1003C>T
• NM_004360.4:c.1003C>T
• p.R335*

This HGVS expression did not pass validation

Protein change:

R335*

Links:

dbSNP: rs587780784

NCBI 1000 Genomes Browser:

rs587780784

Molecular consequence:

• NM_001317185.2:c.-613C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001317186.2:c.-817C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001317184.2:c.1003C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_004360.5:c.1003C>T - nonsense - [Sequence Ontology: SO:0001587]