ClinVar

NM_006727.5(CDH10):c.1589C>T (p.Ala530Val)

Gene:

CDH10:cadherin 10 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5p14.2

Genomic location:

• Chr5: 24492852 (on Assembly GRCh38)
• Chr5: 24492961 (on Assembly GRCh37)

Preferred name:

NM_006727.5(CDH10):c.1589C>T (p.Ala530Val)

HGVS:

• NC_000005.10:g.24492852G>A
• NM_001317222.2:c.-194C>T
• NM_001317224.2:c.1589C>T
• NM_001362460.1:c.1516-4699C>T
• NM_006727.5:c.1589C>TMANE SELECT
• NP_001304153.1:p.Ala530Val
• NP_006718.2:p.Ala530Val
• NC_000005.9:g.24492961G>A
• NM_006727.3:c.1589C>T

This HGVS expression did not pass validation

Protein change:

A530V

Molecular consequence:

• NM_001317222.2:c.-194C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001362460.1:c.1516-4699C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001317224.2:c.1589C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_006727.5:c.1589C>T - missense variant - [Sequence Ontology: SO:0001583]