GIPC3 Chromosome 19

GIPC PDZ domain containing family member 3

31 variants 31 Health Risk

Upload your DNA to see your personal genotypes for variants in GIPC3.

What This Gene Does

The protein encoded by this gene belongs to the GIPC family. Studies in mice suggest that this gene is required for postnatal maturation of the hair bundle and long-term survival of hair cells and spiral ganglion in the ear. Mutations in this gene are associated with autosomal recessive deafness. [provided by RefSeq, Dec 2011]

Gene Info

Gene Group

PDZ domain containing

Locus Type

gene with protein product

Location

19p13.3

Ensembl

ENSG00000179855

Associated Conditions (7)

GIPC3-related disorder

Inborn genetic diseases

Autosomal recessive nonsyndromic hearing loss 15

Rare genetic deafness

Sensorineural hearing loss disorder

Hearing loss

autosomal recessive

Key Variants

RS138339125

Conflicting classifications of pathogenicity

Health Risk

RS140960269

Conflicting classifications of pathogenicity

Health Risk

RS141293401

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS1419316711

Conflicting classifications of pathogenicity

Health Risk

RS149028750

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS199951984

Conflicting classifications of pathogenicity

Health Risk

RS202075236

Conflicting classifications of pathogenicity

Health Risk

RS2512423018

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 15, Inborn genetic diseases, Autosomal recessive nonsyndromic hearing loss 15

Health Risk

RS372583605

Conflicting classifications of pathogenicity

Health Risk

RS747242422

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 15, Autosomal recessive nonsyndromic hearing loss 15

Health Risk

RS756840753

Conflicting classifications of pathogenicity

Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 15, Rare genetic deafness

Health Risk

RS764467903

Conflicting classifications of pathogenicity

Health Risk

All Variants (31)

RSID	Category	Clinical Significance	Conditions
RS138339125	Health Risk	Conflicting classifications of pathogenicity	GIPC3-related disorder, GIPC3-related disorder
RS140960269	Health Risk	Conflicting classifications of pathogenicity	—
RS141293401	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS1419316711	Health Risk	Conflicting classifications of pathogenicity	—
RS149028750	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS199951984	Health Risk	Conflicting classifications of pathogenicity	GIPC3-related disorder, Autosomal recessive nonsyndromic hearing loss 15, GIPC3-related disorder
RS202075236	Health Risk	Conflicting classifications of pathogenicity	—
RS2512423018	Health Risk	Conflicting classifications of pathogenicity	Autosomal recessive nonsyndromic hearing loss 15, Inborn genetic diseases, Autosomal recessive nonsyndromic hearing loss 15
RS372583605	Health Risk	Conflicting classifications of pathogenicity	—
RS747242422	Health Risk	Conflicting classifications of pathogenicity	Autosomal recessive nonsyndromic hearing loss 15, Autosomal recessive nonsyndromic hearing loss 15
RS756840753	Health Risk	Conflicting classifications of pathogenicity	Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 15, Rare genetic deafness
RS764467903	Health Risk	Conflicting classifications of pathogenicity	GIPC3-related disorder, GIPC3-related disorder
RS766192644	Health Risk	Conflicting classifications of pathogenicity	—
RS876657467	Health Risk	Conflicting classifications of pathogenicity	—
RS942647950	Health Risk	Conflicting classifications of pathogenicity	—
RS998073430	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS1348505504	Health Risk	Likely pathogenic	Sensorineural hearing loss disorder, Sensorineural hearing loss disorder
RS2032380956	Health Risk	Likely pathogenic	Autosomal recessive nonsyndromic hearing loss 15, Autosomal recessive nonsyndromic hearing loss 15
RS2512423085	Health Risk	Likely pathogenic	GIPC3-related disorder, GIPC3-related disorder
RS1568278651	Health Risk	Pathogenic	Autosomal recessive nonsyndromic hearing loss 15, Autosomal recessive nonsyndromic hearing loss 15
RS2145268409	Health Risk	Pathogenic	—
RS387906999	Health Risk	Pathogenic	Autosomal recessive nonsyndromic hearing loss 15, Autosomal recessive nonsyndromic hearing loss 15
RS387907000	Health Risk	Pathogenic	Autosomal recessive nonsyndromic hearing loss 15, Autosomal recessive nonsyndromic hearing loss 15
RS387907001	Health Risk	Pathogenic	Autosomal recessive nonsyndromic hearing loss 15, Autosomal recessive nonsyndromic hearing loss 15
RS387907002	Health Risk	Pathogenic	Autosomal recessive nonsyndromic hearing loss 15, Autosomal recessive nonsyndromic hearing loss 15
RS727504771	Health Risk	Pathogenic	Rare genetic deafness, Rare genetic deafness
RS748150647	Health Risk	Pathogenic	Autosomal recessive nonsyndromic hearing loss 15, Autosomal recessive nonsyndromic hearing loss 15
RS761543680	Health Risk	Pathogenic	Hearing loss, autosomal recessive, Hearing loss
RS876657692	Health Risk	Pathogenic	Rare genetic deafness, Rare genetic deafness
RS946085339	Health Risk	Pathogenic	Autosomal recessive nonsyndromic hearing loss 15, Autosomal recessive nonsyndromic hearing loss 15
RS727503062	Health Risk	Pathogenic/Likely pathogenic	Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 15, Rare genetic deafness