ClinVar

NM_022124.6(CDH23):c.772A>G (p.Ile258Val)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

10q22.1

Genomic location:

• Chr10: 71577932 (on Assembly GRCh38)
• Chr10: 73337689 (on Assembly GRCh37)

Preferred name:

NM_022124.6(CDH23):c.772A>G (p.Ile258Val)

HGVS:

• NC_000010.11:g.71577932A>G
• NG_008835.1:g.185986A>G
• NM_001171930.2:c.772A>G
• NM_001171931.2:c.772A>G
• NM_001171932.2:c.772A>G
• NM_022124.6:c.772A>GMANE SELECT
• NM_052836.4:c.772A>G
• NP_001165401.1:p.Ile258Val
• NP_001165402.1:p.Ile258Val
• NP_001165403.1:p.Ile258Val
• NP_071407.4:p.Ile258Val
• NP_443068.1:p.Ile258Val
• NC_000010.10:g.73337689A>G
• NM_022124.5:c.772A>G

This HGVS expression did not pass validation

Protein change:

I258V

Links:

dbSNP: rs370782827

NCBI 1000 Genomes Browser:

rs370782827

Molecular consequence:

• NM_001171930.2:c.772A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001171931.2:c.772A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001171932.2:c.772A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_022124.6:c.772A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_052836.4:c.772A>G - missense variant - [Sequence Ontology: SO:0001583]