chr10:73565589:C>T Detail (hg19) (CDH23, LOC111982869)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr10:73,565,589-73,565,589
hg38	chr10:71,805,832-71,805,832 View the variant detail on this assembly version.

HGVS

CDH23

Type	Transcript	Protein
RefSeq	NM_001171933.1:c.1179C>T	NP_001165404.1:p.Tyr393=
	NM_001171934.1:c.1179C>T	NP_001165405.1:p.Tyr393=
	NM_022124.5:c.7899C>T	NP_071407.4:p.Tyr2633=
Ensemble	ENST00000398788.4:c.1179C>T	ENST00000398788.4:p.Tyr393=
	ENST00000619887.4:c.1179C>T	ENST00000619887.4:p.Tyr393=
	ENST00000224721.12:c.7899C>T	ENST00000224721.12:p.Tyr2633=

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Likely benign
Review star
Show details

Links

CDH23

Type	Database	ID	Link
Gene	MIM	605516	OMIM
	HGNC	13733	HGNC
	Ensembl	ENSG00000107736	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely benign	2023-10-26	criteria provided, single submitter	not provided	germline	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_022124.6(CDH23):c.7899C>T (p.Tyr2633=) AND not provided	ClinVar	Detail

Overlapped Transcript Coordinates

Gene	Transcript ID	Exon Number	Chromosome	Start	Stop	Type	Amino Mutation	Transcript Position	Links

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs1375264465 dbSNP
Genome: hg19
Position: chr10:73,565,589-73,565,589
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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