ClinVar

NM_022124.6(CDH23):c.3764A>T (p.Lys1255Met)

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: 71732035 (on Assembly GRCh38)
• Chr10: 73491792 (on Assembly GRCh37)

Preferred name:

NM_022124.6(CDH23):c.3764A>T (p.Lys1255Met)

HGVS:

• NC_000010.11:g.71732035A>T
• NG_008835.1:g.340089A>T
• NM_001168390.2:c.-6+5693T>A
• NM_001171930.2:c.3764A>T
• NM_022124.6:c.3764A>TMANE SELECT
• NP_001165401.1:p.Lys1255Met
• NP_071407.4:p.Lys1255Met
• NC_000010.10:g.73491792A>T
• NM_022124.5:c.3764A>T

This HGVS expression did not pass validation

Protein change:

K1255M

Links:

dbSNP: rs372158876

NCBI 1000 Genomes Browser:

rs372158876

Molecular consequence:

• NM_001168390.2:c.-6+5693T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001171930.2:c.3764A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_022124.6:c.3764A>T - missense variant - [Sequence Ontology: SO:0001583]