chr13:20189243:A>C Detail (hg38) (GJB2)

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

Information

Genome

Assembly	Position
hg19	chr13:20,763,382-20,763,382 View the variant detail on this assembly version.
hg38	chr13:20,189,243-20,189,243

HGVS

GJB2

Type	Transcript	Protein
RefSeq	NM_004004.5:c.339T>G	NP_003995.2:p.Ser113Arg
Ensemble	ENST00000382844.2:c.339T>G	ENST00000382844.2:p.Ser113Arg
	ENST00000382848.5:c.339T>G	ENST00000382848.5:p.Ser113Arg

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

Prediction

ClinVar

Clinical Significance	Uncertain significance
Review star
Show details

Links

GJB2

Type	Database	ID	Link
Gene	MIM	121011	OMIM
	HGNC	4284	HGNC
	Ensembl	ENSG00000165474	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
Conflicting interpretations of pathogenicity	2017-06-13	criteria provided, conflicting interpretations	Autosomal recessive nonsyndromic hearing loss 1A	germline unknown	Detail
Uncertain significance	2024-01-17	reviewed by expert panel	Nonsyndromic genetic hearing loss	germline	Detail
Likely pathogenic	2023-12-19	criteria provided, single submitter	not provided	germline	Detail
not provided		no assertion provided	Autosomal recessive nonsyndromic hearing loss 1A	unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.440	DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_004004.6(GJB2):c.339T>G (p.Ser113Arg) AND Autosomal recessive nonsyndromic hearing loss 1A	ClinVar	Detail
NM_004004.6(GJB2):c.339T>G (p.Ser113Arg) AND Nonsyndromic genetic hearing loss	ClinVar	Detail
NM_004004.6(GJB2):c.339T>G (p.Ser113Arg) AND not provided	ClinVar	Detail
NM_004004.6(GJB2):c.339T>G (p.Ser113Arg) AND Autosomal recessive nonsyndromic hearing loss 1A	ClinVar	Detail
NA	DisGeNET	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: rs80338946 dbSNP
Genome: hg38
Position: chr13:20,189,243-20,189,243
Variant Type: snv
Reference Allele: A
Alternative Allele: C
East Asian Chromosome Counts (ExAC): 8640
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 121104
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 8.25736557008852E-6

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