ClinVar

NM_004360.5(CDH1):c.2514C>T (p.Ser838=)

Gene:

CDH1:cadherin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q22.1

Genomic location:

• Chr16: 68833364 (on Assembly GRCh38)
• Chr16: 68867267 (on Assembly GRCh37)

Preferred name:

NM_004360.5(CDH1):c.2514C>T (p.Ser838=)

HGVS:

• NC_000016.10:g.68833364C>T
• NG_008021.1:g.101073C>T
• NM_001317184.2:c.2331C>T
• NM_001317185.2:c.966C>T
• NM_001317186.2:c.549C>T
• NM_004360.5:c.2514C>TMANE SELECT
• NP_001304113.1:p.Ser777=
• NP_001304114.1:p.Ser322=
• NP_001304115.1:p.Ser183=
• NP_004351.1:p.Ser838=
• LRG_301t1:c.2514C>T
• LRG_301:g.101073C>T
• NC_000016.9:g.68867267C>T
• NM_004360.3:c.2514C>T
• NM_004360.4:c.2514C>T
• p.S838S

This HGVS expression did not pass validation

Links:

dbSNP: rs770974998

NCBI 1000 Genomes Browser:

rs770974998

Molecular consequence:

• NM_001317184.2:c.2331C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001317185.2:c.966C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001317186.2:c.549C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004360.5:c.2514C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1