SLC29A3 Chromosome 10

Solute carrier family 29 member 3
59 variants 1 Drug Response 58 Health Risk

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What This Gene Does
This gene encodes a nucleoside transporter. The encoded protein plays a role in cellular uptake of nucleosides, nucleobases, and their related analogs. Mutations in this gene have been associated with H syndrome, which is characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism. A related disorder, PHID (pigmented hypertrichosis with insulin-dependent diabetes mellitus), has also been associated with mutations at this locus. Alternatively spliced transcript variants have been described.[provided by RefSeq, Mar 2010]
Gene Info
Gene Group
Solute carrier family 29
Locus Type
gene with protein product
Location
10q22.1
Ensembl
ENSG00000198246
Associated Conditions (10)
H syndrome
Gemcitabine response
Acanthosis nigricans
SLC29A3-related disorder
Inborn genetic diseases
Thyroid cancer
nonmedullary
1
Clear cell carcinoma of kidney
Pigmentary skin disorders
Key Variants
RS780668
Benign; drug response
H syndrome, Gemcitabine response, Acanthosis nigricans
Drug Response
RS113542201
Conflicting classifications of pathogenicity
H syndrome, SLC29A3-related disorder, H syndrome
Health Risk
RS138640615
Conflicting classifications of pathogenicity
H syndrome, H syndrome
Health Risk
RS142991278
Conflicting classifications of pathogenicity
H syndrome, Inborn genetic diseases, H syndrome
Health Risk
RS146764905
Conflicting classifications of pathogenicity
Inborn genetic diseases, SLC29A3-related disorder, H syndrome
Health Risk
RS147552838
Conflicting classifications of pathogenicity
H syndrome, H syndrome
Health Risk
RS147814367
Conflicting classifications of pathogenicity
H syndrome, SLC29A3-related disorder, H syndrome
Health Risk
RS1847078623
Conflicting classifications of pathogenicity
H syndrome, H syndrome
Health Risk
RS1847094674
Conflicting classifications of pathogenicity
H syndrome, H syndrome
Health Risk
RS373404056
Conflicting classifications of pathogenicity
H syndrome, SLC29A3-related disorder, H syndrome
Health Risk
RS374417695
Conflicting classifications of pathogenicity
H syndrome, SLC29A3-related disorder, H syndrome
Health Risk
RS566110994
Conflicting classifications of pathogenicity
H syndrome, H syndrome
Health Risk
All Variants (59)
RSID Category Clinical Significance Conditions
RS780668 Drug Response Benign; drug response H syndrome, Gemcitabine response, Acanthosis nigricans
RS113542201 Health Risk Conflicting classifications of pathogenicity H syndrome, SLC29A3-related disorder, H syndrome
RS138640615 Health Risk Conflicting classifications of pathogenicity H syndrome, H syndrome
RS142991278 Health Risk Conflicting classifications of pathogenicity H syndrome, Inborn genetic diseases, H syndrome
RS146764905 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, SLC29A3-related disorder, H syndrome
RS147552838 Health Risk Conflicting classifications of pathogenicity H syndrome, H syndrome
RS147814367 Health Risk Conflicting classifications of pathogenicity H syndrome, SLC29A3-related disorder, H syndrome
RS1847078623 Health Risk Conflicting classifications of pathogenicity H syndrome, H syndrome
RS1847094674 Health Risk Conflicting classifications of pathogenicity H syndrome, H syndrome
RS373404056 Health Risk Conflicting classifications of pathogenicity H syndrome, SLC29A3-related disorder, H syndrome
RS374417695 Health Risk Conflicting classifications of pathogenicity H syndrome, SLC29A3-related disorder, H syndrome
RS566110994 Health Risk Conflicting classifications of pathogenicity H syndrome, H syndrome
RS746408350 Health Risk Conflicting classifications of pathogenicity H syndrome, H syndrome
RS752027628 Health Risk Conflicting classifications of pathogenicity H syndrome, H syndrome
RS757865136 Health Risk Conflicting classifications of pathogenicity H syndrome, H syndrome
RS761175955 Health Risk Conflicting classifications of pathogenicity H syndrome, H syndrome
RS770560831 Health Risk Conflicting classifications of pathogenicity H syndrome, Inborn genetic diseases, H syndrome
RS772475005 Health Risk Conflicting classifications of pathogenicity H syndrome, H syndrome
RS773321774 Health Risk Conflicting classifications of pathogenicity H syndrome, H syndrome
RS773495153 Health Risk Conflicting classifications of pathogenicity H syndrome, Inborn genetic diseases, H syndrome
RS776552123 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS779712924 Health Risk Conflicting classifications of pathogenicity H syndrome, H syndrome
RS896755457 Health Risk Conflicting classifications of pathogenicity H syndrome, H syndrome
RS1166563034 Health Risk Likely pathogenic H syndrome, H syndrome
RS139857136 Health Risk Likely pathogenic H syndrome, Thyroid cancer, nonmedullary
RS1845790373 Health Risk Likely pathogenic H syndrome, H syndrome
RS1845876806 Health Risk Likely pathogenic H syndrome, H syndrome
RS267607057 Health Risk Likely pathogenic H syndrome, Clear cell carcinoma of kidney, H syndrome
RS1015206890 Health Risk Pathogenic H syndrome, H syndrome
RS1205111368 Health Risk Pathogenic H syndrome, H syndrome
RS121912583 Health Risk Pathogenic H syndrome, H syndrome
RS121912584 Health Risk Pathogenic H syndrome, Pigmentary skin disorders, H syndrome
RS1223982382 Health Risk Pathogenic H syndrome, H syndrome
RS1318676764 Health Risk Pathogenic H syndrome, H syndrome
RS1415833135 Health Risk Pathogenic H syndrome, H syndrome
RS1589220231 Health Risk Pathogenic H syndrome, H syndrome
RS2131796660 Health Risk Pathogenic H syndrome, H syndrome
RS2131797156 Health Risk Pathogenic H syndrome, H syndrome
RS2131839011 Health Risk Pathogenic H syndrome, H syndrome
RS2131851477 Health Risk Pathogenic H syndrome, H syndrome
RS2492355723 Health Risk Pathogenic H syndrome, H syndrome
RS2492435861 Health Risk Pathogenic H syndrome, H syndrome
RS2492504505 Health Risk Pathogenic H syndrome, H syndrome
RS2492507222 Health Risk Pathogenic H syndrome, H syndrome
RS2492507254 Health Risk Pathogenic H syndrome, H syndrome
RS267607058 Health Risk Pathogenic H syndrome, SLC29A3-related disorder, H syndrome
RS377762611 Health Risk Pathogenic H syndrome, H syndrome
RS387907066 Health Risk Pathogenic H syndrome, H syndrome
RS587780463 Health Risk Pathogenic H syndrome, H syndrome, H syndrome
RS749946303 Health Risk Pathogenic H syndrome, H syndrome
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