ClinVar

NM_004360.5(CDH1):c.2589C>T (p.Asn863=)

Gene:

CDH1:cadherin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q22.1

Genomic location:

• Chr16: 68833439 (on Assembly GRCh38)
• Chr16: 68867342 (on Assembly GRCh37)

Preferred name:

NM_004360.5(CDH1):c.2589C>T (p.Asn863=)

Other names:

p.N863N:AAC>AAT

HGVS:

• NC_000016.10:g.68833439C>T
• NG_008021.1:g.101148C>T
• NM_001317184.2:c.2406C>T
• NM_001317185.2:c.1041C>T
• NM_001317186.2:c.624C>T
• NM_004360.5:c.2589C>TMANE SELECT
• NP_001304113.1:p.Asn802=
• NP_001304114.1:p.Asn347=
• NP_001304115.1:p.Asn208=
• NP_004351.1:p.Asn863=
• LRG_301t1:c.2589C>T
• LRG_301:g.101148C>T
• NC_000016.9:g.68867342C>T
• NM_004360.3:c.2589C>T
• NM_004360.4:c.2589C>T
• p.Asn863Asn
• p.N863N

This HGVS expression did not pass validation

Links:

dbSNP: rs115817750

NCBI 1000 Genomes Browser:

rs115817750

Molecular consequence:

• NM_001317184.2:c.2406C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001317185.2:c.1041C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001317186.2:c.624C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004360.5:c.2589C>T - synonymous variant - [Sequence Ontology: SO:0001819]