ClinVar

NM_022124.6(CDH23):c.3250G>T (p.Gly1084Cys)

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: 71712694 (on Assembly GRCh38)
• Chr10: 73472451 (on Assembly GRCh37)

Preferred name:

NM_022124.6(CDH23):c.3250G>T (p.Gly1084Cys)

HGVS:

• NC_000010.11:g.71712694G>T
• NG_008835.1:g.320748G>T
• NM_001164375.3:c.*3242C>AMANE SELECT
• NM_001168390.2:c.*3242C>A
• NM_001171930.2:c.3250G>T
• NM_022124.6:c.3250G>TMANE SELECT
• NP_001165401.1:p.Gly1084Cys
• NP_071407.4:p.Gly1084Cys
• NC_000010.10:g.73472451G>T
• NM_022124.5:c.3250G>T

This HGVS expression did not pass validation

Protein change:

G1084C

Links:

dbSNP: rs1064794520

NCBI 1000 Genomes Browser:

rs1064794520

Molecular consequence:

• NM_001164375.3:c.*3242C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001168390.2:c.*3242C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001171930.2:c.3250G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_022124.6:c.3250G>T - missense variant - [Sequence Ontology: SO:0001583]