ClinVar

NM_004360.5(CDH1):c.1590C>T (p.Ala530=)

Gene:

CDH1:cadherin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q22.1

Genomic location:

• Chr16: 68819304 (on Assembly GRCh38)
• Chr16: 68853207 (on Assembly GRCh37)

Preferred name:

NM_004360.5(CDH1):c.1590C>T (p.Ala530=)

HGVS:

• NC_000016.10:g.68819304C>T
• NG_008021.1:g.87013C>T
• NM_001317184.2:c.1407C>T
• NM_001317185.2:c.42C>T
• NM_001317186.2:c.-254-2697C>T
• NM_004360.5:c.1590C>TMANE SELECT
• NP_001304113.1:p.Ala469=
• NP_001304114.1:p.Ala14=
• NP_004351.1:p.Ala530=
• LRG_301t1:c.1590C>T
• LRG_301:g.87013C>T
• NC_000016.9:g.68853207C>T
• NM_004360.3:c.1590C>T
• p.A530A

This HGVS expression did not pass validation

Links:

dbSNP: rs786201805

NCBI 1000 Genomes Browser:

rs786201805

Molecular consequence:

• NM_001317186.2:c.-254-2697C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001317184.2:c.1407C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001317185.2:c.42C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004360.5:c.1590C>T - synonymous variant - [Sequence Ontology: SO:0001819]