ClinVar

NM_004360.5(CDH1):c.828T>C (p.Leu276=)

Gene:

CDH1:cadherin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q22.1

Genomic location:

• Chr16: 68810337 (on Assembly GRCh38)
• Chr16: 68844240 (on Assembly GRCh37)

Preferred name:

NM_004360.5(CDH1):c.828T>C (p.Leu276=)

HGVS:

• NC_000016.10:g.68810337T>C
• NG_008021.1:g.78046T>C
• NM_001317184.2:c.828T>C
• NM_001317185.2:c.-788T>C
• NM_001317186.2:c.-992T>C
• NM_004360.5:c.828T>CMANE SELECT
• NP_001304113.1:p.Leu276=
• NP_004351.1:p.Leu276=
• LRG_301:g.78046T>C
• NC_000016.9:g.68844240T>C

This HGVS expression did not pass validation

Links:

dbSNP: rs2152131206

NCBI 1000 Genomes Browser:

rs2152131206

Molecular consequence:

• NM_001317185.2:c.-788T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001317186.2:c.-992T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001317184.2:c.828T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004360.5:c.828T>C - synonymous variant - [Sequence Ontology: SO:0001819]