RGD:8596908 Rat Genome Database

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Variant: RGD:8596908 -  Homo sapiens

RGD ID: 8596908
RS ID: rs121908480
ClinVar ID: CV20820
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC7A9  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 33,355,167
GRCh38 19 32,864,261
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
NG_008258.1:g.10517G>A
NC_000019.10:g.32864261C>T
NC_000019.9:g.33355167C>T
NP_055085.1:p.Gly105Arg
More... 		02/05/2022 missense variant pathogenic|likely pathogenic all ages|variable 1-5 / 10 000 Cystinuria, non-type I; CYSTINURIA, TYPE I; CYSTINURIA, TYPE II; CYSTINURIA, TYPE III; none provided
Disease Annotations     Click to see Annotation Detail View
cystinuria  (IAGP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Cystinuria  (IAGP)

Variant Details
Variant Transcripts
Gene Symbol:SLC7A9
Accession:NM_001126335
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 105
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGDTGLRKRREDEKSIQSQEPKTTSLQKELGLISGISIIVGTIIGSGIFVSPKSVLSNTEAVGPCLIIWAACGVLATLGA
LCFAELGTMITKSGGEYPYLMEAYRPIPAYLFSWASLIVIKPTSFAIICLSFSEYVCAPFYVGCKPPQIVVKCLAAAAIL
FISTVNSLSVRLGSYVQNIFTAAKLVIVAIIIISGLVLLAQGNTKNFDNSFEGAQLSVGAISLAFYNGLWAYDGWNQLNY
ITEELRNPYRNLPLAIIIGIPLVTACYILMNVSYFTVMTATELLQSQAVAVTFGDRVLYPASWIVPLFVAFSTIGAANGT
CFTAGRLIYVAGREGHMLKVLSYISVRRLTPAPAIIFYGIIATIYIIPGDINSLVNYFSFAAWLFYGLTILGLIVMRFTR
KELERPIKVPVVIPVLMTLISVFLVLAPIISKPTWEYLYCVLFILSGLLFYFLFVHYKFGWAQKISKPITMHLQMLMEVV
PPEEDPE*

Gene Symbol:SLC7A9
Accession:NM_014270
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 105
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGDTGLRKRREDEKSIQSQEPKTTSLQKELGLISGISIIVGTIIGSGIFVSPKSVLSNTEAVGPCLIIWAACGVLATLGA
LCFAELGTMITKSGGEYPYLMEAYRPIPAYLFSWASLIVIKPTSFAIICLSFSEYVCAPFYVGCKPPQIVVKCLAAAAIL
FISTVNSLSVRLGSYVQNIFTAAKLVIVAIIIISGLVLLAQGNTKNFDNSFEGAQLSVGAISLAFYNGLWAYDGWNQLNY
ITEELRNPYRNLPLAIIIGIPLVTACYILMNVSYFTVMTATELLQSQAVAVTFGDRVLYPASWIVPLFVAFSTIGAANGT
CFTAGRLIYVAGREGHMLKVLSYISVRRLTPAPAIIFYGIIATIYIIPGDINSLVNYFSFAAWLFYGLTILGLIVMRFTR
KELERPIKVPVVIPVLMTLISVFLVLAPIISKPTWEYLYCVLFILSGLLFYFLFVHYKFGWAQKISKPITMHLQMLMEVV
PPEEDPE*

Gene Symbol:SLC7A9
Accession:NM_001243036
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 105
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGDTGLRKRREDEKSIQSQEPKTTSLQKELGLISGISIIVGTIIGSGIFVSPKSVLSNTEAVGPCLIIWAACGVLATLGA
LCFAELGTMITKSGGEYPYLMEAYRPIPAYLFSWASLIVIKPTSFAIICLSFSEYVCAPFYVGCKPPQIVVKCLAAAAIL
FISTVNSLSVRLGSYVQNIFTAAKLVIVAIIIISGLVLLAQGNTKNFDNSFEGAQLSVGAISLAFYNGLWAYDGWNQLNY
ITEELRNPYRNLPLAIIIGIPLVTACYILMNVSYFTVMTATELLQSQAVAVTFGDRVLYPASWIVPLFVAFSTIGAANGT
CFTAGRLIYVAGREGHMLKVLSYISVRRLTPAPAIIFYGIIATIYIIPGDINSLVNYFSFAAWLFYGLTILGLIVMRFTR
KELERPIKVPVVIPVLMTLISVFLVLAPIISKPTWEYLYCVLFILSGLLFYFLFVHYKFGWAQKISKPITMHLQMLMEVV
PPEEDPE*

Gene Symbol:SLC7A9
Accession:XM_011526402
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 105
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGDTGLRKRREDEKSIQSQEPKTTSLQKELGLISGISIIVGTIIGSGIFVSPKSVLSNTEAVGPCLIIWAACGVLATLGA
LCFAELGTMITKSGGEYPYLMEAYRPIPAYLFSWASLIVIKPTSFAIICLSFSEYVCAPFYVGCKPPQIVVKCLAAAAIL
FISTVNSLSVRLGSYVQNIFTAAKLVIVAIIIISGLVLLAQGNTKNFDNSFEGAQLSVGAISLAFYNGLWAYDGWNQLNY
ITEELRNPYRNLPLAIIIGIPLVTACYILMNVSYFTVMTATELLQSQAVAVTFGDRVLYPASWIVPLFVAFSTIGAANGT
CFTAGRLIYVAGREGHMLKVLSYISVRRLTPAPAIIFYGIIATIYIIPGDINSLVNYFSFAAWLFYGLTILGLIVMRFTR
KELERPIKVPVVIPVLMTLISVFLVLAPIISKPTWEYLYCVLFILSGLLFYFLFVHYKFGWAQKISKPITMHLQMLMEVV
PPEEDPE*

Gene Symbol:SLC7A9
Accession:XM_017026230
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 17
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MITKSGGEYPYLMEAYRPIPAYLFSWASLIVIKPTSFAIICLSFSEYVCAPFYVGCKPPQIVVKCLAAAAILFISTVNSL
SVRLGSYVQNIFTAAKLVIVAIIIISGLVLLAQGNTKNFDNSFEGAQLSVGAISLAFYNGLWAYDGWNQLNYITEELRNP
YRNLPLAIIIGIPLVTACYILMNVSYFTVMTATELLQSQAVAVTFGDRVLYPASWIVPLFVAFSTIGAANGTCFTAGRLI
YVAGREGHMLKVLSYISVRRLTPAPAIIFYGIIATIYIIPGDINSLVNYFSFAAWLFYGLTILGLIVMRFTRKELERPIK
VPVVIPVLMTLISVFLVLAPIISKPTWEYLYCVLFILSGLLFYFLFVHYKFGWAQKISKPITMHLQMLMEVVPPEEDPE*

Gene Symbol:SLC7A9
Accession:XM_047438117
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:10471498   PMID:11157794   PMID:12036192   PMID:15635077   PMID:16138908   PMID:16225397   PMID:16834950   PMID:16838140   PMID:19782624   PMID:21677404   PMID:23532419   PMID:25296721  
PMID:25741868   PMID:25964309   PMID:26123750   PMID:28492532   PMID:28717662   PMID:33964006   PMID:34805638  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000006137 CLINVAR
  RCV000523825 CLINVAR
dbSNP (RS) rs121908480 CLINVAR
MedGen C0010691 CLINVAR
  C3661900 CLINVAR
NCBI Gene SLC7A9 CLINVAR
OMIM 220100 CLINVAR
  604144 CLINVAR
OMIM Allele 604144.0002 CLINVAR
SNOMED CT 85020001 CLINVAR