ClinVar

NM_004360.5(CDH1):c.2487T>C (p.Ser829=)

Gene:

CDH1:cadherin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q22.1

Genomic location:

• Chr16: 68833337 (on Assembly GRCh38)
• Chr16: 68867240 (on Assembly GRCh37)

Preferred name:

NM_004360.5(CDH1):c.2487T>C (p.Ser829=)

HGVS:

• NC_000016.10:g.68833337T>C
• NG_008021.1:g.101046T>C
• NM_001317184.2:c.2304T>C
• NM_001317185.2:c.939T>C
• NM_001317186.2:c.522T>C
• NM_004360.5:c.2487T>CMANE SELECT
• NP_001304113.1:p.Ser768=
• NP_001304114.1:p.Ser313=
• NP_001304115.1:p.Ser174=
• NP_004351.1:p.Ser829=
• LRG_301t1:c.2487T>C
• LRG_301:g.101046T>C
• NC_000016.9:g.68867240T>C
• NM_004360.3:c.2487T>C

This HGVS expression did not pass validation

Links:

dbSNP: rs1555518229

NCBI 1000 Genomes Browser:

rs1555518229

Molecular consequence:

• NM_001317184.2:c.2304T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001317185.2:c.939T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001317186.2:c.522T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004360.5:c.2487T>C - synonymous variant - [Sequence Ontology: SO:0001819]