ClinVar

NM_022124.6(CDH23):c.3625A>G (p.Thr1209Ala)

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: 71730514 (on Assembly GRCh38)
• Chr10: 73490271 (on Assembly GRCh37)

Preferred name:

NM_022124.6(CDH23):c.3625A>G (p.Thr1209Ala)

HGVS:

• NC_000010.11:g.71730514A>G
• NG_008835.1:g.338568A>G
• NM_001168390.2:c.-6+7214T>C
• NM_001171930.2:c.3625A>G
• NM_022124.6:c.3625A>GMANE SELECT
• NP_001165401.1:p.Thr1209Ala
• NP_071407.4:p.Thr1209Ala
• NP_071407.4:p.Thr1209Ala
• NC_000010.10:g.73490271A>G
• NM_022124.4:c.3625A>G
• NM_022124.5:c.3625A>G
• c.3625A>G

This HGVS expression did not pass validation

Protein change:

T1209A; THR1209ALA

Links:

OMIM: 605516.0013; dbSNP: rs41281314

NCBI 1000 Genomes Browser:

rs41281314

Molecular consequence:

• NM_001168390.2:c.-6+7214T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001171930.2:c.3625A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_022124.6:c.3625A>G - missense variant - [Sequence Ontology: SO:0001583]