RGD:151831275 Rat Genome Database

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Variant: RGD:151831275 -  Homo sapiens

RGD ID: 151831275
RS ID: rs183474162
ClinVar ID: CV1391948
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC6A19  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 5 1,213,611
GRCh38 5 1,213,496
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001003841.3:c.697G>A
NG_008282.1:g.16902G>A
NC_000005.10:g.1213496G>A
NC_000005.9:g.1213611G>A
More... 		06/01/2022 missense variant uncertain significance GLYCINURIA WITH OR WITHOUT OXALATE NEPHROLITHIASIS; GLYCINURIA WITH OR WITHOUT OXALATE UROLITHIASIS; Hartnup disease; Hartnup disorder; Iminoglycinuria; IMINOGLYCINURIA TYPE II; Neutral 1 amino acid transport defect; none provided
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:SLC6A19
Accession:NM_001003841
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 233
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVRLVLPNPGLDARIPSLAELETIEQEEASSRPKWDNKAQYMLTCLGFCVGLGNVWRFPYLCQSHGGGAFMIPFLILLVL
EGIPLLYLEFAIGQRLRRGSLGVWSSIHPALKGLGLASMLTSFMVGLYYNTIISWIMWYLFNSFQEPLPWSDCPLNENQT
GYVDECARSSPVDYFWYRETLNISTSISDSGSIQWWMLLCLACAWSVLYMCTIRGIETTGKAVYITSTLPYVILTIFLIR
GLTLKGATNGIVFLFTPNVTELAQPDTWLDAGAQVFFSFSLAFGGLISFSSYNSVHNNCEKDSVIVSIINGFTSVYVAIV
VYSVIGFRATQRYDDCFSTNILTLINGFDLPEGNVTQENFVDMQQRCNASDPAAYAQLVFQTCDINAFLSEAVEGTGLAF
IVFTEAITKMPLSPLWSVLFFIMLFCLGLSSMFGNMEGVVVPLQDLRVIPPKWPKEVLTGLICLGTFLIGFIFTLNSGQY
WLSLLDSYAGSIPLLIIAFCEMFSVVYVYGVDRFNKDIEFMIGHKPNIFWQVTWRVVSPLLMLIIFLFFFVVEVSQELTY
SIWDPGYEEFPKSQKISYPNWVYVVVVIVAGVPSLTIPGYAIYKLIRNHCQKPGDHQGLVSTLSTASMNGDLKY*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532   PMID:30626930  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002050745 CLINVAR
  RCV002506876 CLINVAR
  RCV003485735 CLINVAR
dbSNP (RS) rs183474162 CLINVAR
MedGen C0018609 CLINVAR
  C0543541 CLINVAR
  C3661900 CLINVAR
NCBI Gene SLC6A19 CLINVAR
OMIM 138500 CLINVAR
  234500 CLINVAR
  242600 CLINVAR
  608893 CLINVAR
SNOMED CT 80902009 CLINVAR