ClinVar

NM_004360.5(CDH1):c.12G>C (p.Trp4Cys)

Gene:

CDH1:cadherin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q22.1

Genomic location:

• Chr16: 68737427 (on Assembly GRCh38)
• Chr16: 68771330 (on Assembly GRCh37)

Preferred name:

NM_004360.5(CDH1):c.12G>C (p.Trp4Cys)

HGVS:

• NC_000016.10:g.68737427G>C
• NG_008021.1:g.5136G>C
• NG_193711.1:g.190G>C
• NM_001317184.2:c.12G>C
• NM_001317185.2:c.-1604G>C
• NM_001317186.2:c.-1808G>C
• NM_004360.5:c.12G>CMANE SELECT
• NP_001304113.1:p.Trp4Cys
• NP_004351.1:p.Trp4Cys
• NP_004351.1:p.Trp4Cys
• LRG_301t1:c.12G>C
• LRG_301:g.5136G>C
• LRG_301p1:p.Trp4Cys
• NC_000016.9:g.68771330G>C
• NM_004360.3:c.12G>C

This HGVS expression did not pass validation

Protein change:

W4C

Molecular consequence:

• NM_001317185.2:c.-1604G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001317186.2:c.-1808G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001317184.2:c.12G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_004360.5:c.12G>C - missense variant - [Sequence Ontology: SO:0001583]