ClinVar

NM_004360.5(CDH1):c.2628C>T (p.Tyr876=)

Gene:

CDH1:cadherin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q22.1

Genomic location:

• Chr16: 68833478 (on Assembly GRCh38)
• Chr16: 68867381 (on Assembly GRCh37)

Preferred name:

NM_004360.5(CDH1):c.2628C>T (p.Tyr876=)

HGVS:

• NC_000016.10:g.68833478C>T
• NG_008021.1:g.101187C>T
• NM_001317184.2:c.2445C>T
• NM_001317185.2:c.1080C>T
• NM_001317186.2:c.663C>T
• NM_004360.4:c.2628C>T
• NM_004360.5:c.2628C>TMANE SELECT
• NP_001304113.1:p.Tyr815=
• NP_001304114.1:p.Tyr360=
• NP_001304115.1:p.Tyr221=
• NP_004351.1:p.Tyr876=
• LRG_301t1:c.2628C>T
• LRG_301:g.101187C>T
• NC_000016.9:g.68867381C>T
• NM_004360.3:c.2628C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs778681919

NCBI 1000 Genomes Browser:

rs778681919

Molecular consequence:

• NM_001317184.2:c.2445C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001317185.2:c.1080C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001317186.2:c.663C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004360.5:c.2628C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1