ClinVar

NM_022124.6(CDH23):c.4209+334G>A

Genes:

CDH23:cadherin related 23 [Gene - OMIM - HGNC]
C10orf105:chromosome 10 open reading frame 105 [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q22.1

Genomic location:

• Chr10: 71734992 (on Assembly GRCh38)
• Chr10: 73494749 (on Assembly GRCh37)

Preferred name:

NM_022124.6(CDH23):c.4209+334G>A

HGVS:

• NC_000010.11:g.71734992G>A
• NG_008835.1:g.343046G>A
• NM_001168390.2:c.-6+2736C>T
• NM_022124.6:c.4209+334G>AMANE SELECT
• NC_000010.10:g.73494749G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs116014408

NCBI 1000 Genomes Browser:

rs116014408

Molecular consequence:

• NM_001168390.2:c.-6+2736C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_022124.6:c.4209+334G>A - intron variant - [Sequence Ontology: SO:0001627]