RGD:8555709 Rat Genome Database

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Variant: RGD:8555709 -  Homo sapiens

RGD ID: 8555709
RS ID: rs267607056
ClinVar ID: CV15603
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC29A3  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 10 73,122,267
GRCh38 10 71,362,510
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NC_000010.11:g.71362510G>T
NC_000010.10:g.73122267G>T
NP_060814.4:p.Glu444Ter
LRG_1318t1:c.1330G>T
More... 		12/23/2019 3 prime utr variant|non-coding transcript variant|nonsense|utr-3 pathogenic|likely pathogenic childhood <1 / 1 000 000 Asrar Facharzt Haque syndrome; Faisalabad histiocytosis; HISTIOCYTOSIS AND LYMPHADENOPATHY WITH OR WITHOUT CUTANEOUS, CARDIAC, AND/OR ENDOCRINE FEATURES, JOINT CONTRACTURES, AND/OR DEAFNESS; Histiocytosis with joint contractures and sensorineural deafness; Histiocytosis-lymphadenopathy plus syndrome; HYPERPIGMENTATION, CUTANEOUS, WITH HYPERTRICHOSIS, HEPATOSPLENOMEGALY, HEART ANOMALIES, AND HYPOGONADISM WITH OR WITHOUT HEARING LOSS; Hyperpigmentation, Cutaneous, with Hypertrichosis, Hepatosplenomegaly, Heart Anomalies, Hearing Loss, and Hypogonadism; none provided; Pigmented hypertrichosis and insulin-dependent diabetes mellitus; PIGMENTED HYPERTRICHOSIS WITH INSULIN-DEPENDENT DIABETES MELLITUS; ROSAI-DORFMAN DISEASE, FAMILIAL; SINUS HISTIOCYTOSIS AND MASSIVE LYMPHADENOPATHY
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SLC29A3
Accession:NM_001174098
Location:3UTRS;EXON

Gene Symbol:SLC29A3
Accession:NM_001363518
Location:EXON
Amino Acid Prediction: E to * (nonsynonymous)
Amino Acid Position: 366
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFKLRNSSSPATGEDPEGSDILNYFESYLAVASTVPSMLCLVANFLLVNRVAVHIRVLASLTVILAIFMVITALVKVDTS
SWTRGFFAVTIVCMVILSGASTVFSSSIYGMTGSFPMRNSQALISGGAMGGTVSAVASLVDLAASSDVRNSALAFFLTAT
VFLVLCMGLYLLLSRLEYARYYMRPVLAAHVFSGEEELPQDSLSAPSVASRFIDSHTPPLRPILKKTASLGFCVTYVFFI
TSLIYPAICTNIESLNKGSGSLWTTKFFIPLTTFLLYNFADLCGRQLTAWIQVPGPNSKALPGFVLLRTCLIPLFVLCNY
QPRVHLKTVVFQSDVYPALLSSLLGLSNGYLSTLALLYGPKIVPR*LAEATGVVMSFYVCLGLTLGSACSTLLVHLI*

Gene Symbol:SLC29A3
Accession:NM_018344
Location:EXON
Amino Acid Prediction: E to * (nonsynonymous)
Amino Acid Position: 444
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVVSEDDFQHSSNSTYRTTSSSLRADQEALLEKLLDRPPPGLQRPEDRFCGTYIIFFSLGIGSLLPWNFFITAKEYWMF
KLRNSSSPATGEDPEGSDILNYFESYLAVASTVPSMLCLVANFLLVNRVAVHIRVLASLTVILAIFMVITALVKVDTSSW
TRGFFAVTIVCMVILSGASTVFSSSIYGMTGSFPMRNSQALISGGAMGGTVSAVASLVDLAASSDVRNSALAFFLTATVF
LVLCMGLYLLLSRLEYARYYMRPVLAAHVFSGEEELPQDSLSAPSVASRFIDSHTPPLRPILKKTASLGFCVTYVFFITS
LIYPAICTNIESLNKGSGSLWTTKFFIPLTTFLLYNFADLCGRQLTAWIQVPGPNSKALPGFVLLRTCLIPLFVLCNYQP
RVHLKTVVFQSDVYPALLSSLLGLSNGYLSTLALLYGPKIVPR*LAEATGVVMSFYVCLGLTLGSACSTLLVHLI*

Gene Symbol:SLC29A3
Accession:NR_033413
Location:EXON;NON-CODING

Gene Symbol:SLC29A3
Accession:NR_033414
Location:EXON;NON-CODING

Gene Symbol:SLC29A3
Accession:XM_047425424
Location:INTRON

Gene Symbol:SLC29A3
Accession:XM_047425425
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:17461801   PMID:19336477   PMID:20595384   PMID:28492532   PMID:28554179   PMID:33947670  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000000594 CLINVAR
  RCV000413820 CLINVAR
dbSNP (RS) rs267607056 CLINVAR
MedGen C1864445 CLINVAR
  C3661900 CLINVAR
NCBI Gene SLC29A3 CLINVAR
OMIM 602782 CLINVAR
  612373 CLINVAR
  612391 CLINVAR
OMIM Allele 612373.0004 CLINVAR