ClinVar

NM_022124.6(CDH23):c.9094G>A (p.Asp3032Asn)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

10q22.1

Genomic location:

• Chr10: 71811331 (on Assembly GRCh38)
• Chr10: 73571088 (on Assembly GRCh37)

Preferred name:

NM_022124.6(CDH23):c.9094G>A (p.Asp3032Asn)

HGVS:

• NC_000010.11:g.71811331G>A
• NG_008835.1:g.419385G>A
• NM_001171933.1:c.2374G>A
• NM_001171934.1:c.2374G>A
• NM_022124.6:c.9094G>AMANE SELECT
• NP_001165404.1:p.Asp792Asn
• NP_001165405.1:p.Asp792Asn
• NP_071407.4:p.Asp3032Asn
• NC_000010.10:g.73571088G>A
• NM_022124.5:c.9094G>A

This HGVS expression did not pass validation

Protein change:

D3032N

Links:

dbSNP: rs368603948

NCBI 1000 Genomes Browser:

rs368603948

Molecular consequence:

• NM_001171933.1:c.2374G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001171934.1:c.2374G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_022124.6:c.9094G>A - missense variant - [Sequence Ontology: SO:0001583]