ClinVar

NM_022124.6(CDH23):c.9569C>T (p.Ala3190Val)

Gene:

CDH23:cadherin related 23 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q22.1

Genomic location:

• Chr10: 71812826 (on Assembly GRCh38)
• Chr10: 73572583 (on Assembly GRCh37)

Preferred name:

NM_022124.6(CDH23):c.9569C>T (p.Ala3190Val)

HGVS:

• NC_000010.11:g.71812826C>T
• NG_008835.1:g.420880C>T
• NM_001171933.1:c.2849C>T
• NM_001171934.1:c.2849C>T
• NM_001171935.1:c.260C>T
• NM_001171936.1:c.260C>T
• NM_022124.6:c.9569C>TMANE SELECT
• NP_001165404.1:p.Ala950Val
• NP_001165405.1:p.Ala950Val
• NP_001165406.1:p.Ala87Val
• NP_001165407.1:p.Ala87Val
• NP_071407.4:p.Ala3190Val
• NC_000010.10:g.73572583C>T
• NM_022124.5:c.9569C>T
• NM_022124.6(CDH23):c.9569C>TMANE SELECT
• c.9569C>T

This HGVS expression did not pass validation

Protein change:

A3190V

Links:

dbSNP: rs111033536

NCBI 1000 Genomes Browser:

rs111033536

Molecular consequence:

• NM_001171933.1:c.2849C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001171934.1:c.2849C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001171935.1:c.260C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001171936.1:c.260C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_022124.6:c.9569C>T - missense variant - [Sequence Ontology: SO:0001583]