ClinVar

NM_022124.6(CDH23):c.9234G>A (p.Leu3078=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

10q22.1

Genomic location:

• Chr10: 71811546 (on Assembly GRCh38)
• Chr10: 73571303 (on Assembly GRCh37)

Preferred name:

NM_022124.6(CDH23):c.9234G>A (p.Leu3078=)

HGVS:

• NC_000010.11:g.71811546G>A
• NG_008835.1:g.419600G>A
• NM_001171933.1:c.2514G>A
• NM_001171934.1:c.2514G>A
• NM_022124.6:c.9234G>AMANE SELECT
• NP_001165404.1:p.Leu838=
• NP_001165405.1:p.Leu838=
• NP_071407.4:p.Leu3078=
• NC_000010.10:g.73571303G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs952277066

NCBI 1000 Genomes Browser:

rs952277066

Molecular consequence:

• NM_001171933.1:c.2514G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001171934.1:c.2514G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_022124.6:c.9234G>A - synonymous variant - [Sequence Ontology: SO:0001819]