ClinVar

NM_004360.5(CDH1):c.2520C>T (p.Ser840=)

Gene:

CDH1:cadherin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q22.1

Genomic location:

• Chr16: 68833370 (on Assembly GRCh38)
• Chr16: 68867273 (on Assembly GRCh37)

Preferred name:

NM_004360.5(CDH1):c.2520C>T (p.Ser840=)

Other names:

p.S840S:TCC>TCT

HGVS:

• NC_000016.10:g.68833370C>T
• NG_008021.1:g.101079C>T
• NM_001317184.2:c.2337C>T
• NM_001317185.2:c.972C>T
• NM_001317186.2:c.555C>T
• NM_004360.5:c.2520C>TMANE SELECT
• NP_001304113.1:p.Ser779=
• NP_001304114.1:p.Ser324=
• NP_001304115.1:p.Ser185=
• NP_004351.1:p.Ser840=
• LRG_301t1:c.2520C>T
• LRG_301:g.101079C>T
• NC_000016.9:g.68867273C>T
• NM_004360.3:c.2520C>T
• NM_004360.4:c.2520C>T
• p.S840S
• p.Ser840Ser

This HGVS expression did not pass validation

Links:

dbSNP: rs140328601

NCBI 1000 Genomes Browser:

rs140328601

Molecular consequence:

• NM_001317184.2:c.2337C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001317185.2:c.972C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001317186.2:c.555C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004360.5:c.2520C>T - synonymous variant - [Sequence Ontology: SO:0001819]