ClinVar

NM_022124.6(CDH23):c.3118G>T (p.Asp1040Tyr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

10q22.1

Genomic location:

• Chr10: 71709109 (on Assembly GRCh38)
• Chr10: 73468866 (on Assembly GRCh37)

Preferred name:

NM_022124.6(CDH23):c.3118G>T (p.Asp1040Tyr)

HGVS:

• NC_000010.11:g.71709109G>T
• NG_008835.1:g.317163G>T
• NM_001171930.2:c.3118G>T
• NM_022124.6:c.3118G>TMANE SELECT
• NP_001165401.1:p.Asp1040Tyr
• NP_071407.4:p.Asp1040Tyr
• NC_000010.10:g.73468866G>T
• NM_022124.5:c.3118G>T

This HGVS expression did not pass validation

Protein change:

D1040Y

Links:

dbSNP: rs200177873

NCBI 1000 Genomes Browser:

rs200177873

Molecular consequence:

• NM_001171930.2:c.3118G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_022124.6:c.3118G>T - missense variant - [Sequence Ontology: SO:0001583]