SLC6A19 (solute carrier family 6 member 19) - Rat Genome Database
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Gene: SLC6A19 (solute carrier family 6 member 19) Homo sapiens
Analyze
Symbol: SLC6A19
Name: solute carrier family 6 member 19
RGD ID: 1604954
HGNC Page HGNC
Description: Exhibits neutral amino acid transmembrane transporter activity. Predicted to be involved in sodium ion transmembrane transport. Localizes to apical plasma membrane and brush border membrane. Implicated in Hartnup disease.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: B0AT1; FLJ20680; FLJ34635; HND; sodium-dependent amino acid transporter system B0; sodium-dependent neutral amino acid transporter B(0)AT1; solute carrier family 6 (neurotransmitter transporter), member 19; solute carrier family 6 (neutral amino acid transporter), member 19; system B(0) neutral amino acid transporter AT1; system B0 neutral amino acid transporter
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
NCBI Annotation Information: Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in SARS-CoV-2 infection.
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl51,201,595 - 1,225,111 (+)EnsemblGRCh38hg38GRCh38
GRCh3851,201,595 - 1,225,111 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3751,201,710 - 1,225,226 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3651,254,766 - 1,275,019 (+)NCBINCBI36hg18NCBI36
Celera51,238,608 - 1,262,115 (+)NCBI
Cytogenetic Map5p15.33NCBI
HuRef51,183,086 - 1,206,530 (+)NCBIHuRef
CHM1_151,198,248 - 1,225,118 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:7876094   PMID:11394870   PMID:14702039   PMID:15044460   PMID:15286787   PMID:15286788   PMID:17555458   PMID:18195088   PMID:18424768   PMID:18484095   PMID:18671945   PMID:19056867  
PMID:19185582   PMID:19322909   PMID:19335424   PMID:20301334   PMID:20399395   PMID:20883558   PMID:21873635   PMID:21964291   PMID:23234856   PMID:23376485   PMID:25086665   PMID:25534429  
PMID:31176687   PMID:32132184   PMID:33064147  


Genomics

Comparative Map Data
SLC6A19
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl51,201,595 - 1,225,111 (+)EnsemblGRCh38hg38GRCh38
GRCh3851,201,595 - 1,225,111 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3751,201,710 - 1,225,226 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3651,254,766 - 1,275,019 (+)NCBINCBI36hg18NCBI36
Celera51,238,608 - 1,262,115 (+)NCBI
Cytogenetic Map5p15.33NCBI
HuRef51,183,086 - 1,206,530 (+)NCBIHuRef
CHM1_151,198,248 - 1,225,118 (+)NCBICHM1_1
Slc6a19
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391373,827,864 - 73,848,899 (-)NCBIGRCm39mm39
GRCm39 Ensembl1373,827,864 - 73,852,984 (-)Ensembl
GRCm381373,679,745 - 73,700,780 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1373,679,745 - 73,704,865 (-)EnsemblGRCm38mm10GRCm38
MGSCv371373,818,605 - 73,838,143 (-)NCBIGRCm37mm9NCBIm37
MGSCv361374,147,159 - 74,166,697 (-)NCBImm8
Celera1376,010,112 - 76,029,756 (-)NCBICelera
Cytogenetic Map13C1NCBI
Slc6a19
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2129,586,205 - 29,604,960 (+)NCBI
Rnor_6.0 Ensembl132,199,810 - 32,220,045 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0132,199,869 - 32,218,628 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0133,624,561 - 33,643,496 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4130,393,331 - 30,412,094 (+)NCBIRGSC3.4rn4RGSC3.4
Celera128,234,184 - 28,252,964 (+)NCBICelera
Cytogenetic Map1p11NCBI
Slc6a19
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955504616,768 - 633,654 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955504617,683 - 633,594 (+)NCBIChiLan1.0ChiLan1.0
SLC6A19
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.151,249,478 - 1,272,508 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl51,248,802 - 1,272,508 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v051,489,845 - 1,513,146 (+)NCBIMhudiblu_PPA_v0panPan3
SLC6A19
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13411,329,126 - 11,344,248 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3411,329,111 - 11,344,293 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3415,838,998 - 15,854,198 (-)NCBI
ROS_Cfam_1.03411,229,799 - 11,244,920 (-)NCBI
UMICH_Zoey_3.13411,280,591 - 11,295,588 (-)NCBI
UNSW_CanFamBas_1.03411,260,140 - 11,275,298 (-)NCBI
UU_Cfam_GSD_1.03411,471,162 - 11,486,159 (-)NCBI
Slc6a19
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213244,352,755 - 244,371,592 (-)NCBI
SpeTri2.0NW_004936815515,928 - 532,877 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SLC6A19
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1679,293,943 - 79,310,922 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11679,293,940 - 79,310,922 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21685,952,505 - 85,969,441 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SLC6A19
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.141,031,236 - 1,053,815 (+)NCBI
ChlSab1.1 Ensembl41,033,125 - 1,056,843 (+)Ensembl
Slc6a19
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624751591,846 - 606,362 (+)NCBI

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2463
Count of miRNA genes:907
Interacting mature miRNAs:1074
Transcripts:ENST00000304460, ENST00000515652
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 235 5 14 14 130 15 1 2 158 13 4 2
Low 425 98 216 215 163 216 17 4 10 88 123 23 4 7
Below cutoff 1013 1328 718 223 751 157 1548 871 1546 64 795 634 67 483 990 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000304460   ⟹   ENSP00000305302
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl51,201,595 - 1,225,111 (+)Ensembl
RefSeq Acc Id: ENST00000515652   ⟹   ENSP00000425701
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl51,201,595 - 1,223,270 (+)Ensembl
RefSeq Acc Id: NM_001003841   ⟹   NP_001003841
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3851,201,595 - 1,225,111 (+)NCBI
GRCh3751,201,710 - 1,225,232 (+)ENTREZGENE
GRCh3751,201,710 - 1,225,232 (+)NCBI
Build 3651,254,766 - 1,275,019 (+)NCBI Archive
HuRef51,183,086 - 1,206,530 (+)ENTREZGENE
CHM1_151,198,248 - 1,225,118 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001003841   ⟸   NM_001003841
- UniProtKB: Q695T7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000305302   ⟸   ENST00000304460
RefSeq Acc Id: ENSP00000425701   ⟸   ENST00000515652

Promoters
RGD ID:6869166
Promoter ID:EPDNEW_H7748
Type:multiple initiation site
Name:SLC6A19_1
Description:solute carrier family 6 member 19
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3851,201,595 - 1,201,655EPDNEW
RGD ID:6803566
Promoter ID:HG_KWN:49713
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:NM_001003841
Position:
Human AssemblyChrPosition (strand)Source
Build 3651,254,271 - 1,254,771 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
SLC6A19, IVS8, T-G, +2 single nucleotide variant Neutral 1 amino acid transport defect [RCV000002094] Chr5:5p15.33 pathogenic
NM_001003841.3(SLC6A19):c.882_883TG[1] (p.Val295fs) microsatellite Neutral 1 amino acid transport defect [RCV000002095] Chr5:1214060..1214061 [GRCh38]
Chr5:1214175..1214176 [GRCh37]
Chr5:5p15.33		 pathogenic
NM_001003841.3(SLC6A19):c.1017-4G>A single nucleotide variant Hyperglycinuria [RCV000002099]|Iminoglycinuria, digenic [RCV000002098] Chr5:1216785 [GRCh38]
Chr5:1216900 [GRCh37]
Chr5:5p15.33		 pathogenic
NM_001003841.3(SLC6A19):c.1705G>T (p.Glu569Ter) single nucleotide variant not provided [RCV000723052] Chr5:1221704 [GRCh38]
Chr5:1221819 [GRCh37]
Chr5:5p15.33		 uncertain significance
NM_001003841.3(SLC6A19):c.728del (p.Thr243fs) deletion not provided [RCV000722915] Chr5:1213527 [GRCh38]
Chr5:1213642 [GRCh37]
Chr5:5p15.33		 uncertain significance
NM_001003841.3(SLC6A19):c.1173+2T>G single nucleotide variant Neutral 1 amino acid transport defect [RCV000002094]|not provided [RCV000521109] Chr5:1216947 [GRCh38]
Chr5:1217062 [GRCh37]
Chr5:5p15.33		 pathogenic
NM_001003841.3(SLC6A19):c.517G>A (p.Asp173Asn) single nucleotide variant Hyperglycinuria [RCV000763127]|Neutral 1 amino acid transport defect [RCV000002096]|not provided [RCV000413766]|not specified [RCV001170020] Chr5:1212338 [GRCh38]
Chr5:1212453 [GRCh37]
Chr5:5p15.33		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001003841.3(SLC6A19):c.718C>T (p.Arg240Ter) single nucleotide variant Neutral 1 amino acid transport defect [RCV000002097] Chr5:1213517 [GRCh38]
Chr5:1213632 [GRCh37]
Chr5:5p15.33		 pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:49978-15678451)x1 copy number loss See cases [RCV000050295] Chr5:49978..15678451 [GRCh38]
Chr5:50093..15678560 [GRCh37]
Chr5:103093..15731560 [NCBI36]
Chr5:5p15.33-15.1		 pathogenic
GRCh38/hg38 5p15.33(chr5:22149-3404244)x1 copy number loss See cases [RCV000050885] Chr5:22149..3404244 [GRCh38]
Chr5:22149..3404358 [GRCh37]
Chr5:75149..3457358 [NCBI36]
Chr5:5p15.33		 pathogenic
GRCh38/hg38 5p15.33(chr5:22149-1826256)x1 copy number loss See cases [RCV000050655] Chr5:22149..1826256 [GRCh38]
Chr5:22149..1826370 [GRCh37]
Chr5:75149..1879370 [NCBI36]
Chr5:5p15.33		 pathogenic
GRCh38/hg38 5p15.33(chr5:49978-4014647)x1 copy number loss See cases [RCV000051100] Chr5:49978..4014647 [GRCh38]
Chr5:50093..4014761 [GRCh37]
Chr5:103093..4067761 [NCBI36]
Chr5:5p15.33		 pathogenic
GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3 copy number gain See cases [RCV000051810] Chr5:54839..45649861 [GRCh38]
Chr5:54954..45649963 [GRCh37]
Chr5:107954..45685720 [NCBI36]
Chr5:5p15.33-12		 pathogenic
GRCh38/hg38 5p15.33-13.2(chr5:54839-35680845)x3 copy number gain See cases [RCV000051811] Chr5:54839..35680845 [GRCh38]
Chr5:54954..35680947 [GRCh37]
Chr5:107954..35716704 [NCBI36]
Chr5:5p15.33-13.2		 pathogenic
GRCh38/hg38 5p15.33-15.31(chr5:21949-8872509)x3 copy number gain See cases [RCV000051808] Chr5:21949..8872509 [GRCh38]
Chr5:21949..8872621 [GRCh37]
Chr5:74949..8925621 [NCBI36]
Chr5:5p15.33-15.31		 pathogenic
GRCh38/hg38 5p15.33-15.31(chr5:49778-8872509)x3 copy number gain See cases [RCV000051809] Chr5:49778..8872509 [GRCh38]
Chr5:49893..8872621 [GRCh37]
Chr5:102893..8925621 [NCBI36]
Chr5:5p15.33-15.31		 pathogenic
GRCh38/hg38 5p15.33-15.31(chr5:22149-7213275)x1 copy number loss See cases [RCV000053397] Chr5:22149..7213275 [GRCh38]
Chr5:22149..7213388 [GRCh37]
Chr5:75149..7266388 [NCBI36]
Chr5:5p15.33-15.31		 pathogenic
GRCh38/hg38 5p15.33-14.3(chr5:22149-23132046)x1 copy number loss See cases [RCV000053398] Chr5:22149..23132046 [GRCh38]
Chr5:22149..23132155 [GRCh37]
Chr5:75149..23167912 [NCBI36]
Chr5:5p15.33-14.3		 pathogenic
GRCh38/hg38 5p15.33-15.2(chr5:22149-12004091)x1 copy number loss See cases [RCV000053399] Chr5:22149..12004091 [GRCh38]
Chr5:22149..12004203 [GRCh37]
Chr5:75149..12057203 [NCBI36]
Chr5:5p15.33-15.2		 pathogenic
GRCh38/hg38 5p15.33(chr5:22149-3556942)x1 copy number loss See cases [RCV000053400] Chr5:22149..3556942 [GRCh38]
Chr5:22149..3557056 [GRCh37]
Chr5:75149..3610056 [NCBI36]
Chr5:5p15.33		 pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:22149-17425613)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053401]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053401]|See cases [RCV000053401] Chr5:22149..17425613 [GRCh38]
Chr5:22149..17425722 [GRCh37]
Chr5:75149..17478722 [NCBI36]
Chr5:5p15.33-15.1		 pathogenic
GRCh38/hg38 5p15.33-15.2(chr5:22149-10044087)x1 copy number loss See cases [RCV000053416] Chr5:22149..10044087 [GRCh38]
Chr5:22149..10044199 [GRCh37]
Chr5:75149..10097199 [NCBI36]
Chr5:5p15.33-15.2		 pathogenic
GRCh38/hg38 5p15.33-15.32(chr5:22149-4580491)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053417]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053417]|See cases [RCV000053417] Chr5:22149..4580491 [GRCh38]
Chr5:22149..4580604 [GRCh37]
Chr5:75149..4633604 [NCBI36]
Chr5:5p15.33-15.32		 pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:22149-15995341)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053418]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053418]|See cases [RCV000053418] Chr5:22149..15995341 [GRCh38]
Chr5:22149..15995450 [GRCh37]
Chr5:75149..16048450 [NCBI36]
Chr5:5p15.33-15.1		 pathogenic
GRCh38/hg38 5p15.33-14.3(chr5:22419-19280892)x1 copy number loss See cases [RCV000053419] Chr5:22419..19280892 [GRCh38]
Chr5:22419..19281001 [GRCh37]
Chr5:75419..19316758 [NCBI36]
Chr5:5p15.33-14.3		 pathogenic
GRCh38/hg38 5p15.33(chr5:37694-2746908)x1 copy number loss See cases [RCV000053420] Chr5:37694..2746908 [GRCh38]
Chr5:37692..2747022 [GRCh37]
Chr5:90692..2800022 [NCBI36]
Chr5:5p15.33		 pathogenic
GRCh38/hg38 5p15.33(chr5:37694-2913205)x1 copy number loss See cases [RCV000053421] Chr5:37694..2913205 [GRCh38]
Chr5:37692..2913319 [GRCh37]
Chr5:90692..2966319 [NCBI36]
Chr5:5p15.33		 pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:49778-16908798)x1 copy number loss See cases [RCV000053422] Chr5:49778..16908798 [GRCh38]
Chr5:49893..16908907 [GRCh37]
Chr5:102893..16961907 [NCBI36]
Chr5:5p15.33-15.1		 pathogenic
GRCh38/hg38 5p15.33-15.32(chr5:49778-4768868)x1 copy number loss See cases [RCV000053423] Chr5:49778..4768868 [GRCh38]
Chr5:49893..4768981 [GRCh37]
Chr5:102893..4821981 [NCBI36]
Chr5:5p15.33-15.32		 pathogenic
GRCh38/hg38 5p15.33-14.3(chr5:49778-19125522)x1 copy number loss See cases [RCV000053424] Chr5:49778..19125522 [GRCh38]
Chr5:49893..19125631 [GRCh37]
Chr5:102893..19161388 [NCBI36]
Chr5:5p15.33-14.3		 pathogenic
GRCh38/hg38 5p15.33-15.32(chr5:54839-5603401)x1 copy number loss See cases [RCV000053444] Chr5:54839..5603401 [GRCh38]
Chr5:54954..5603514 [GRCh37]
Chr5:107954..5656514 [NCBI36]
Chr5:5p15.33-15.32		 pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:547757-26541238)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053445]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053445]|See cases [RCV000053445] Chr5:547757..26541238 [GRCh38]
Chr5:547872..26541347 [GRCh37]
Chr5:600872..26577104 [NCBI36]
Chr5:5p15.33-14.1		 pathogenic
NM_001003841.3(SLC6A19):c.1540T>G (p.Phe514Val) single nucleotide variant not provided [RCV000087176] Chr5:1221152 [GRCh38]
Chr5:1221267 [GRCh37]
Chr5:5p15.33		 uncertain significance
NM_001003841.3(SLC6A19):c.306T>C (p.Gly102=) single nucleotide variant not specified [RCV000118390] Chr5:1208849 [GRCh38]
Chr5:1208964 [GRCh37]
Chr5:5p15.33		 benign|likely benign
NM_001003841.3(SLC6A19):c.754G>A (p.Val252Ile) single nucleotide variant not specified [RCV000118391] Chr5:1213553 [GRCh38]
Chr5:1213668 [GRCh37]
Chr5:5p15.33		 benign|likely benign
NM_001003841.3(SLC6A19):c.990A>G (p.Thr330=) single nucleotide variant not specified [RCV000118392] Chr5:1216660 [GRCh38]
Chr5:1216775 [GRCh37]
Chr5:5p15.33		 benign|likely benign
GRCh37/hg19 5p15.33-13.3(chr5:22149-29048823)x1 copy number loss See cases [RCV001310287] Chr5:22149..29048823 [GRCh37]
Chr5:5p15.33-13.3		 pathogenic
GRCh38/hg38 5p15.33-13.3(chr5:22149-33418188)x3 copy number gain See cases [RCV000133788] Chr5:22149..33418188 [GRCh38]
Chr5:22149..33418294 [GRCh37]
Chr5:75149..33454051 [NCBI36]
Chr5:5p15.33-13.3		 pathogenic
GRCh38/hg38 5p15.33-15.2(chr5:22149-12819999)x1 copy number loss See cases [RCV000133796] Chr5:22149..12819999 [GRCh38]
Chr5:22149..12820111 [GRCh37]
Chr5:75149..12873111 [NCBI36]
Chr5:5p15.33-15.2		 pathogenic
NM_001003841.3(SLC6A19):c.908C>T (p.Ser303Leu) single nucleotide variant Neutral 1 amino acid transport defect [RCV001171522] Chr5:1216578 [GRCh38]
Chr5:1216693 [GRCh37]
Chr5:5p15.33		 pathogenic
NM_001003841.3(SLC6A19):c.1787_1788insG (p.Ile597fs) insertion Neutral 1 amino acid transport defect [RCV001171523] Chr5:1221786..1221787 [GRCh38]
Chr5:1221901..1221902 [GRCh37]
Chr5:5p15.33		 pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:22149-25699605)x1 copy number loss See cases [RCV000133768] Chr5:22149..25699605 [GRCh38]
Chr5:22149..25699714 [GRCh37]
Chr5:75149..25735471 [NCBI36]
Chr5:5p15.33-14.1		 pathogenic
GRCh38/hg38 5p15.33(chr5:1085824-1315406)x3 copy number gain See cases [RCV000135385] Chr5:1085824..1315406 [GRCh38]
Chr5:1085939..1315521 [GRCh37]
Chr5:1138939..1368521 [NCBI36]
Chr5:5p15.33		 uncertain significance
GRCh38/hg38 5p15.33(chr5:22149-1278576)x3 copy number gain See cases [RCV000135393] Chr5:22149..1278576 [GRCh38]
Chr5:22149..1278691 [GRCh37]
Chr5:75149..1331691 [NCBI36]
Chr5:5p15.33		 uncertain significance
GRCh38/hg38 5p15.33-14.1(chr5:22149-27788616)x1 copy number loss See cases [RCV000134873] Chr5:22149..27788616 [GRCh38]
Chr5:22149..27788723 [GRCh37]
Chr5:75149..27824480 [NCBI36]
Chr5:5p15.33-14.1		 pathogenic
GRCh38/hg38 5p15.33-13.3(chr5:49978-30112535)x1 copy number loss See cases [RCV000135878] Chr5:49978..30112535 [GRCh38]
Chr5:50093..30112642 [GRCh37]
Chr5:103093..30148399 [NCBI36]
Chr5:5p15.33-13.3		 pathogenic
GRCh38/hg38 5p15.33-13.3(chr5:22149-32248010)x1 copy number loss See cases [RCV000135668] Chr5:22149..32248010 [GRCh38]
Chr5:22149..32248116 [GRCh37]
Chr5:75149..32283873 [NCBI36]
Chr5:5p15.33-13.3		 pathogenic
GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3 copy number gain See cases [RCV000135453] Chr5:49978..46114984 [GRCh38]
Chr5:50093..46115086 [GRCh37]
Chr5:103093..46150843 [NCBI36]
Chr5:5p15.33-11		 pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:22149-16584575)x1 copy number loss See cases [RCV000136556] Chr5:22149..16584575 [GRCh38]
Chr5:22149..16584684 [GRCh37]
Chr5:75149..16637684 [NCBI36]
Chr5:5p15.33-15.1		 pathogenic
GRCh38/hg38 5p15.33(chr5:924086-1544344)x3 copy number gain See cases [RCV000135933] Chr5:924086..1544344 [GRCh38]
Chr5:924201..1544459 [GRCh37]
Chr5:977201..1597459 [NCBI36]
Chr5:5p15.33		 uncertain significance
GRCh38/hg38 5p15.33(chr5:22149-1429599)x1 copy number loss See cases [RCV000136900] Chr5:22149..1429599 [GRCh38]
Chr5:22149..1429714 [GRCh37]
Chr5:75149..1482714 [NCBI36]
Chr5:5p15.33		 pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:22149-27485619)x1 copy number loss See cases [RCV000137072] Chr5:22149..27485619 [GRCh38]
Chr5:22149..27485726 [GRCh37]
Chr5:75149..27521483 [NCBI36]
Chr5:5p15.33-14.1		 pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:22149-15851376)x3 copy number gain See cases [RCV000136943] Chr5:22149..15851376 [GRCh38]
Chr5:22149..15851485 [GRCh37]
Chr5:75149..15904485 [NCBI36]
Chr5:5p15.33-15.1		 pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:22149-28075106)x3 copy number gain See cases [RCV000137682] Chr5:22149..28075106 [GRCh38]
Chr5:22149..28075213 [GRCh37]
Chr5:75149..28110970 [NCBI36]
Chr5:5p15.33-14.1		 pathogenic|uncertain significance
GRCh38/hg38 5p15.33-14.1(chr5:22149-28429241)x1 copy number loss See cases [RCV000137165] Chr5:22149..28429241 [GRCh38]
Chr5:22149..28429348 [GRCh37]
Chr5:75149..28465105 [NCBI36]
Chr5:5p15.33-14.1		 pathogenic
GRCh38/hg38 5p15.33-14.3(chr5:22149-22775295)x1 copy number loss See cases [RCV000138116] Chr5:22149..22775295 [GRCh38]
Chr5:22149..22775404 [GRCh37]
Chr5:75149..22811161 [NCBI36]
Chr5:5p15.33-14.3		 pathogenic
GRCh38/hg38 5p15.33-15.32(chr5:22149-6060102)x1 copy number loss See cases [RCV000138215] Chr5:22149..6060102 [GRCh38]
Chr5:22149..6060215 [GRCh37]
Chr5:75149..6113215 [NCBI36]
Chr5:5p15.33-15.32		 pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:22149-27187950)x1 copy number loss See cases [RCV000138099] Chr5:22149..27187950 [GRCh38]
Chr5:22149..27188057 [GRCh37]
Chr5:75149..27223814 [NCBI36]
Chr5:5p15.33-14.1		 pathogenic
GRCh38/hg38 5p15.33(chr5:22149-4260151)x1 copy number loss See cases [RCV000137942] Chr5:22149..4260151 [GRCh38]
Chr5:22149..4260264 [GRCh37]
Chr5:75149..4313264 [NCBI36]
Chr5:5p15.33		 pathogenic
GRCh38/hg38 5p15.33-15.2(chr5:22149-11429258)x1 copy number loss See cases [RCV000137884] Chr5:22149..11429258 [GRCh38]
Chr5:22149..11429370 [GRCh37]
Chr5:75149..11482370 [NCBI36]
Chr5:5p15.33-15.2		 pathogenic
GRCh38/hg38 5p15.33-15.2(chr5:22149-11530391)x1 copy number loss See cases [RCV000137915] Chr5:22149..11530391 [GRCh38]
Chr5:22149..11530503 [GRCh37]
Chr5:75149..11583503 [NCBI36]
Chr5:5p15.33-15.2		 pathogenic
GRCh38/hg38 5p15.33(chr5:821764-1271935)x3 copy number gain See cases [RCV000137788] Chr5:821764..1271935 [GRCh38]
Chr5:821879..1272050 [GRCh37]
Chr5:874879..1325050 [NCBI36]
Chr5:5p15.33		 likely benign
GRCh38/hg38 5p15.33-14.2(chr5:22149-23607053)x3 copy number gain See cases [RCV000137806] Chr5:22149..23607053 [GRCh38]
Chr5:22149..23607162 [GRCh37]
Chr5:75149..23642919 [NCBI36]
Chr5:5p15.33-14.2		 pathogenic
GRCh38/hg38 5p15.33-13.2(chr5:22149-35831538)x1 copy number loss See cases [RCV000138888] Chr5:22149..35831538 [GRCh38]
Chr5:22149..35831640 [GRCh37]
Chr5:75149..35867397 [NCBI36]
Chr5:5p15.33-13.2		 pathogenic
GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3 copy number gain See cases [RCV000138780] Chr5:22149..74412725 [GRCh38]
Chr5:22149..73708550 [GRCh37]
Chr5:75149..73744306 [NCBI36]
Chr5:5p15.33-q13.3		 pathogenic
GRCh38/hg38 5p15.33-14.3(chr5:22149-21217120)x1 copy number loss See cases [RCV000138553] Chr5:22149..21217120 [GRCh38]
Chr5:22149..21217229 [GRCh37]
Chr5:75149..21252986 [NCBI36]
Chr5:5p15.33-14.3		 pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:22149-17788697)x1 copy number loss See cases [RCV000138288] Chr5:22149..17788697 [GRCh38]
Chr5:22149..17788806 [GRCh37]
Chr5:75149..17824563 [NCBI36]
Chr5:5p15.33-15.1		 likely benign
GRCh38/hg38 5p15.33(chr5:22149-2323943)x3 copy number gain See cases [RCV000139303] Chr5:22149..2323943 [GRCh38]
Chr5:22149..2324057 [GRCh37]
Chr5:75149..2377057 [NCBI36]
Chr5:5p15.33		 pathogenic
GRCh38/hg38 5p15.33(chr5:22149-3619159) copy number gain See cases [RCV000139908] Chr5:22149..3619159 [GRCh38]
Chr5:22149..3619273 [GRCh37]
Chr5:75149..3672273 [NCBI36]
Chr5:5p15.33		 uncertain significance
GRCh38/hg38 5p15.33(chr5:965217-1528677)x3 copy number gain See cases [RCV000139630] Chr5:965217..1528677 [GRCh38]
Chr5:965332..1528792 [GRCh37]
Chr5:1018332..1581792 [NCBI36]
Chr5:5p15.33		 likely benign
GRCh38/hg38 5p15.33-14.1(chr5:22149-28589192)x1 copy number loss See cases [RCV000141225] Chr5:22149..28589192 [GRCh38]
Chr5:22149..28589299 [GRCh37]
Chr5:75149..28625056 [NCBI36]
Chr5:5p15.33-14.1		 pathogenic
GRCh38/hg38 5p15.33-15.32(chr5:22149-4833626)x1 copy number loss See cases [RCV000141244] Chr5:22149..4833626 [GRCh38]
Chr5:22149..4833739 [GRCh37]
Chr5:75149..4886739 [NCBI36]
Chr5:5p15.33-15.32		 pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:22149-16930016)x1 copy number loss See cases [RCV000140964] Chr5:22149..16930016 [GRCh38]
Chr5:22149..16930125 [GRCh37]
Chr5:75149..16983125 [NCBI36]
Chr5:5p15.33-15.1		 pathogenic
GRCh38/hg38 5p15.33-15.31(chr5:113461-8875933)x1 copy number loss See cases [RCV000141930] Chr5:113461..8875933 [GRCh38]
Chr5:113576..8876045 [GRCh37]
Chr5:166576..8929045 [NCBI36]
Chr5:5p15.33-15.31		 pathogenic
GRCh38/hg38 5p15.33-13.2(chr5:113461-33998289)x1 copy number loss See cases [RCV000141844] Chr5:113461..33998289 [GRCh38]
Chr5:113576..33998394 [GRCh37]
Chr5:166576..34034151 [NCBI36]
Chr5:5p15.33-13.2		 pathogenic
GRCh38/hg38 5p15.33-15.32(chr5:113461-6243977)x1 copy number loss See cases [RCV000141898] Chr5:113461..6243977 [GRCh38]
Chr5:113576..6244090 [GRCh37]
Chr5:166576..6297090 [NCBI36]
Chr5:5p15.33-15.32		 pathogenic
GRCh38/hg38 5p15.33-15.2(chr5:113461-14684362)x1 copy number loss See cases [RCV000142183] Chr5:113461..14684362 [GRCh38]
Chr5:113576..14684471 [GRCh37]
Chr5:166576..14737471 [NCBI36]
Chr5:5p15.33-15.2		 pathogenic
GRCh38/hg38 5p15.33-14.3(chr5:22149-21726360)x1 copy number loss See cases [RCV000143022] Chr5:22149..21726360 [GRCh38]
Chr5:22149..21726469 [GRCh37]
Chr5:75149..21762226 [NCBI36]
Chr5:5p15.33-14.3		 pathogenic
GRCh38/hg38 5p15.33-15.32(chr5:22149-5059896)x1 copy number loss See cases [RCV000143018] Chr5:22149..5059896 [GRCh38]
Chr5:22149..5060009 [GRCh37]
Chr5:75149..5113009 [NCBI36]
Chr5:5p15.33-15.32		 pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:22149-27611163)x1 copy number loss See cases [RCV000142934] Chr5:22149..27611163 [GRCh38]
Chr5:22149..27611270 [GRCh37]
Chr5:75149..27647027 [NCBI36]
Chr5:5p15.33-14.1		 pathogenic
GRCh38/hg38 5p15.33-15.32(chr5:95128-5834551)x1 copy number loss See cases [RCV000142697] Chr5:95128..5834551 [GRCh38]
Chr5:95243..5834664 [GRCh37]
Chr5:148243..5887664 [NCBI36]
Chr5:5p15.33-15.32		 pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:22149-26593891)x1 copy number loss See cases [RCV000142645] Chr5:22149..26593891 [GRCh38]
Chr5:22149..26594000 [GRCh37]
Chr5:75149..26629757 [NCBI36]
Chr5:5p15.33-14.1		 pathogenic
GRCh38/hg38 5p15.33(chr5:22149-1659135)x3 copy number gain See cases [RCV000142646] Chr5:22149..1659135 [GRCh38]
Chr5:22149..1659250 [GRCh37]
Chr5:75149..1712250 [NCBI36]
Chr5:5p15.33		 pathogenic
GRCh38/hg38 5p15.33-15.32(chr5:22149-5102586)x1 copy number loss See cases [RCV000143332] Chr5:22149..5102586 [GRCh38]
Chr5:22149..5102699 [GRCh37]
Chr5:75149..5155699 [NCBI36]
Chr5:5p15.33-15.32		 pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:49978-15678451)x1 copy number loss See cases [RCV000148250] Chr5:49978..15678451 [GRCh38]
Chr5:50093..15678560 [GRCh37]
Chr5:103093..15731560 [NCBI36]
Chr5:5p15.33-15.1		 pathogenic
NM_001003841.3(SLC6A19):c.828C>T (p.Phe276=) single nucleotide variant not specified [RCV000194972] Chr5:1214006 [GRCh38]
Chr5:1214121 [GRCh37]
Chr5:5p15.33		 uncertain significance
GRCh37/hg19 5p15.33-13.3(chr5:25328-30672798)x1 copy number loss See cases [RCV000515550] Chr5:25328..30672798 [GRCh37]
Chr5:5p15.33-13.3		 pathogenic
NM_001003841.3(SLC6A19):c.146G>A (p.Cys49Tyr) single nucleotide variant not provided [RCV000190382] Chr5:1201796 [GRCh38]
Chr5:1201911 [GRCh37]
Chr5:5p15.33		 not provided
GRCh37/hg19 5p15.33-15.1(chr5:79146-15509107)x1 copy number loss See cases [RCV000240157] Chr5:79146..15509107 [GRCh37]
Chr5:5p15.33-15.1		 pathogenic
t(5;16)(p15.31;q23.1) translocation not provided [RCV000203391] Chr5:1..8180513 [GRCh37]
Chr16:76935310..90354753 [GRCh37]
Chr5:5p15.33-15.31
Chr16:16q23.1-24.3		 likely pathogenic
GRCh37/hg19 5p15.33-13.3(chr5:113576-33493797)x1 copy number loss See cases [RCV000449075] Chr5:113576..33493797 [GRCh37]
Chr5:5p15.33-13.3		 pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:25328-19661628)x3 copy number gain not provided [RCV000234904] Chr5:25328..19661628 [GRCh37]
Chr5:5p15.33-14.3		 pathogenic
NM_001003841.3(SLC6A19):c.941C>T (p.Ser314Leu) single nucleotide variant not provided [RCV000224449] Chr5:1216611 [GRCh38]
Chr5:1216726 [GRCh37]
Chr5:5p15.33		 uncertain significance
GRCh37/hg19 5p15.33-13.2(chr5:22149-34041255)x3 copy number gain See cases [RCV000240016] Chr5:22149..34041255 [GRCh37]
Chr5:5p15.33-13.2		 pathogenic
NM_001003841.3(SLC6A19):c.941C>A (p.Ser314Ter) single nucleotide variant not provided [RCV000520343] Chr5:1216611 [GRCh38]
Chr5:1216726 [GRCh37]
Chr5:5p15.33		 likely pathogenic
GRCh37/hg19 5p15.33-15.2(chr5:22149-13362684)x1 copy number loss See cases [RCV000240389] Chr5:22149..13362684 [GRCh37]
Chr5:5p15.33-15.2		 pathogenic
NM_001003841.3(SLC6A19):c.41G>A (p.Arg14Gln) single nucleotide variant not provided [RCV000514646] Chr5:1201691 [GRCh38]
Chr5:1201806 [GRCh37]
Chr5:5p15.33		 benign|likely benign
NM_001003841.3(SLC6A19):c.968C>T (p.Ser323Phe) single nucleotide variant not provided [RCV000722425] Chr5:1216638 [GRCh38]
Chr5:1216753 [GRCh37]
Chr5:5p15.33		 uncertain significance
GRCh37/hg19 5p15.33-14.1(chr5:140474-26906925) copy number loss 5p partial monosomy syndrome [RCV000767709] Chr5:140474..26906925 [GRCh37]
Chr5:5p15.33-14.1		 pathogenic
NM_001003841.3(SLC6A19):c.180C>G (p.Tyr60Ter) single nucleotide variant not provided [RCV000598978] Chr5:1201830 [GRCh38]
Chr5:1201945 [GRCh37]
Chr5:5p15.33		 likely pathogenic
NM_001003841.3(SLC6A19):c.482-2A>C single nucleotide variant not provided [RCV000598992] Chr5:1212301 [GRCh38]
Chr5:1212416 [GRCh37]
Chr5:5p15.33		 uncertain significance
NM_001003841.3(SLC6A19):c.284_300dup (p.Leu101fs) duplication not provided [RCV000723181] Chr5:1208819..1208820 [GRCh38]
Chr5:1208934..1208935 [GRCh37]
Chr5:5p15.33		 uncertain significance
NM_001003841.3(SLC6A19):c.1296_1297del (p.Met432fs) deletion not provided [RCV000730695] Chr5:1219024..1219025 [GRCh38]
Chr5:1219139..1219140 [GRCh37]
Chr5:5p15.33		 likely pathogenic
GRCh37/hg19 5p15.33-15.1(chr5:113576-16854340)x1 copy number loss See cases [RCV000449097] Chr5:113576..16854340 [GRCh37]
Chr5:5p15.33-15.1		 pathogenic
GRCh37/hg19 5p15.33-13.3(chr5:113576-30279389)x3 copy number gain See cases [RCV000446077] Chr5:113576..30279389 [GRCh37]
Chr5:5p15.33-13.3		 pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:22149-24835567)x1 copy number loss See cases [RCV000447672] Chr5:22149..24835567 [GRCh37]
Chr5:5p15.33-14.1		 pathogenic
GRCh37/hg19 5p15.33-15.32(chr5:22149-6112711)x1 copy number loss See cases [RCV000447679] Chr5:22149..6112711 [GRCh37]
Chr5:5p15.33-15.32		 pathogenic
GRCh37/hg19 5p15.33-13.2(chr5:113576-34372083)x1 copy number loss See cases [RCV000446974] Chr5:113576..34372083 [GRCh37]
Chr5:5p15.33-13.2		 pathogenic
GRCh37/hg19 5p15.33-15.2(chr5:22149-9958240)x1 copy number loss See cases [RCV000447483] Chr5:22149..9958240 [GRCh37]
Chr5:5p15.33-15.2		 pathogenic
GRCh37/hg19 5p15.33-15.32(chr5:22149-4641409)x1 copy number loss See cases [RCV000446677] Chr5:22149..4641409 [GRCh37]
Chr5:5p15.33-15.32		 pathogenic
GRCh37/hg19 5p15.33-15.1(chr5:113576-17334977)x1 copy number loss See cases [RCV000446645] Chr5:113576..17334977 [GRCh37]
Chr5:5p15.33-15.1		 pathogenic
GRCh37/hg19 5p15.33-15.31(chr5:113576-6737134)x1 copy number loss See cases [RCV000446523] Chr5:113576..6737134 [GRCh37]
Chr5:5p15.33-15.31		 pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:113576-27338567)x1 copy number loss See cases [RCV000446054] Chr5:113576..27338567 [GRCh37]
Chr5:5p15.33-14.1		 pathogenic
GRCh37/hg19 5p15.33-15.2(chr5:113576-14238330)x3 copy number gain See cases [RCV000447632] Chr5:113576..14238330 [GRCh37]
Chr5:5p15.33-15.2		 pathogenic
GRCh37/hg19 5p15.33(chr5:22149-2965987)x1 copy number loss See cases [RCV000446665] Chr5:22149..2965987 [GRCh37]
Chr5:5p15.33		 pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:113576-25948451)x1 copy number loss See cases [RCV000447462] Chr5:113576..25948451 [GRCh37]
Chr5:5p15.33-14.1		 pathogenic
GRCh37/hg19 5p15.33-13.2(chr5:22149-34041196)x1 copy number loss See cases [RCV000448019] Chr5:22149..34041196 [GRCh37]
Chr5:5p15.33-13.2		 pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:113576-21786246)x1 copy number loss See cases [RCV000448521] Chr5:113576..21786246 [GRCh37]
Chr5:5p15.33-14.3		 pathogenic
GRCh37/hg19 5p15.33-15.31(chr5:22149-6500967)x1 copy number loss See cases [RCV000448543] Chr5:22149..6500967 [GRCh37]
Chr5:5p15.33-15.31		 pathogenic
GRCh37/hg19 5p15.33(chr5:22149-4163847)x1 copy number loss See cases [RCV000447780] Chr5:22149..4163847 [GRCh37]
Chr5:5p15.33		 pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:113576-23147737)x1 copy number loss See cases [RCV000448408] Chr5:113576..23147737 [GRCh37]
Chr5:5p15.33-14.3		 pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:79146-22152284)x1 copy number loss See cases [RCV000447737] Chr5:79146..22152284 [GRCh37]
Chr5:5p15.33-14.3		 pathogenic
GRCh37/hg19 5p15.33-15.31(chr5:149372-7883578)x3 copy number gain See cases [RCV000447969] Chr5:149372..7883578 [GRCh37]
Chr5:5p15.33-15.31		 pathogenic
GRCh37/hg19 5p15.33(chr5:1100067-1341964)x3 copy number gain See cases [RCV000448470] Chr5:1100067..1341964 [GRCh37]
Chr5:5p15.33		 uncertain significance
GRCh37/hg19 5p15.33-14.1(chr5:113576-25091472)x1 copy number loss See cases [RCV000512066] Chr5:113576..25091472 [GRCh37]
Chr5:5p15.33-14.1		 pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:113576-26234903)x1 copy number loss See cases [RCV000510193] Chr5:113576..26234903 [GRCh37]
Chr5:5p15.33-14.1		 pathogenic
GRCh37/hg19 5p15.33-15.2(chr5:113576-10163809)x1 copy number loss See cases [RCV000511494] Chr5:113576..10163809 [GRCh37]
Chr5:5p15.33-15.2		 pathogenic
GRCh37/hg19 5p15.33-15.1(chr5:113576-15291661)x1 copy number loss See cases [RCV000511513] Chr5:113576..15291661 [GRCh37]
Chr5:5p15.33-15.1		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p15.33-15.32(chr5:113576-5380741)x1 copy number loss See cases [RCV000511088] Chr5:113576..5380741 [GRCh37]
Chr5:5p15.33-15.32		 pathogenic
GRCh37/hg19 5p15.33-15.2(chr5:113576-10729838)x1 copy number loss See cases [RCV000510912] Chr5:113576..10729838 [GRCh37]
Chr5:5p15.33-15.2		 pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:113576-26948599)x1 copy number loss See cases [RCV000510921] Chr5:113576..26948599 [GRCh37]
Chr5:5p15.33-14.1		 pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:113576-23047959)x1 copy number loss See cases [RCV000510786] Chr5:113576..23047959 [GRCh37]
Chr5:5p15.33-14.3		 pathogenic
NM_001003841.3(SLC6A19):c.1463A>G (p.Tyr488Cys) single nucleotide variant Neutral 1 amino acid transport defect [RCV000626258] Chr5:1219589 [GRCh38]
Chr5:1219704 [GRCh37]
Chr5:5p15.33		 uncertain significance
GRCh37/hg19 5p15.33(chr5:113576-4175855)x1 copy number loss See cases [RCV000512452] Chr5:113576..4175855 [GRCh37]
Chr5:5p15.33		 pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:113576-20240392)x3 copy number gain See cases [RCV000512567] Chr5:113576..20240392 [GRCh37]
Chr5:5p15.33-14.3		 pathogenic
GRCh37/hg19 5p15.33(chr5:113576-1816055)x1 copy number loss not provided [RCV000682510] Chr5:113576..1816055 [GRCh37]
Chr5:5p15.33		 pathogenic
GRCh37/hg19 5p15.33-15.32(chr5:113576-5884399)x1 copy number loss not provided [RCV000682511] Chr5:113576..5884399 [GRCh37]
Chr5:5p15.33-15.32		 pathogenic
GRCh37/hg19 5p15.33-15.32(chr5:113576-6125331)x1 copy number loss not provided [RCV000682512] Chr5:113576..6125331 [GRCh37]
Chr5:5p15.33-15.32		 pathogenic
GRCh37/hg19 5p15.33-15.31(chr5:113576-7946262)x1 copy number loss not provided [RCV000682513] Chr5:113576..7946262 [GRCh37]
Chr5:5p15.33-15.31		 pathogenic
GRCh37/hg19 5p15.33-15.1(chr5:113576-15822225)x1 copy number loss not provided [RCV000682514] Chr5:113576..15822225 [GRCh37]
Chr5:5p15.33-15.1		 pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:113576-19167699)x1 copy number loss not provided [RCV000682515] Chr5:113576..19167699 [GRCh37]
Chr5:5p15.33-14.3		 pathogenic
GRCh37/hg19 5p15.33-13.2(chr5:113576-35739404)x3 copy number gain not provided [RCV000682516] Chr5:113576..35739404 [GRCh37]
Chr5:5p15.33-13.2		 pathogenic
GRCh37/hg19 5p15.33(chr5:113576-1708530)x1 copy number loss not provided [RCV000682509] Chr5:113576..1708530 [GRCh37]
Chr5:5p15.33		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:25328-18662625)x1 copy number loss not provided [RCV000744320] Chr5:25328..18662625 [GRCh37]
Chr5:5p15.33-14.3		 pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:25328-18698028)x3 copy number gain not provided [RCV000744321] Chr5:25328..18698028 [GRCh37]
Chr5:5p15.33-14.3		 pathogenic
GRCh37/hg19 5p15.33-13.3(chr5:25328-31343671)x1 copy number loss not provided [RCV000744322] Chr5:25328..31343671 [GRCh37]
Chr5:5p15.33-13.3		 pathogenic
GRCh37/hg19 5p15.33(chr5:1113556-1202817)x3 copy number gain not provided [RCV000744354] Chr5:1113556..1202817 [GRCh37]
Chr5:5p15.33		 benign
GRCh37/hg19 5p15.33(chr5:1201599-1235790)x1 copy number loss not provided [RCV000744356] Chr5:1201599..1235790 [GRCh37]
Chr5:5p15.33		 benign
GRCh37/hg19 5p15.33(chr5:52186-4163906)x1 copy number loss not provided [RCV000762763] Chr5:52186..4163906 [GRCh37]
Chr5:5p15.33		 likely pathogenic
NC_000005.10:g.(?_218349)_(1297373_?)dup duplication Idiopathic Pulmonary Fibrosis [RCV001031280] Chr5:218464..1297488 [GRCh37]
Chr5:5p15.33		 uncertain significance
NM_001003841.3(SLC6A19):c.45C>G (p.Ile15Met) single nucleotide variant not provided [RCV000900429] Chr5:1201695 [GRCh38]
Chr5:1201810 [GRCh37]
Chr5:5p15.33		 benign
NM_001003841.3(SLC6A19):c.114G>A (p.Lys38=) single nucleotide variant not provided [RCV000904307] Chr5:1201764 [GRCh38]
Chr5:1201879 [GRCh37]
Chr5:5p15.33		 benign
NM_001003841.3(SLC6A19):c.417C>T (p.Tyr139=) single nucleotide variant not provided [RCV000899519] Chr5:1210517 [GRCh38]
Chr5:1210632 [GRCh37]
Chr5:5p15.33		 likely benign
NM_001003841.3(SLC6A19):c.1158C>T (p.Asn386=) single nucleotide variant not provided [RCV000923325] Chr5:1216930 [GRCh38]
Chr5:1217045 [GRCh37]
Chr5:5p15.33		 likely benign
NM_001003841.3(SLC6A19):c.984C>T (p.Arg328=) single nucleotide variant not provided [RCV000880141] Chr5:1216654 [GRCh38]
Chr5:1216769 [GRCh37]
Chr5:5p15.33		 benign
NM_001003841.3(SLC6A19):c.570G>A (p.Ser190=) single nucleotide variant not provided [RCV000903945] Chr5:1212391 [GRCh38]
Chr5:1212506 [GRCh37]
Chr5:5p15.33		 likely benign
NM_001003841.3(SLC6A19):c.1302G>A (p.Gly434=) single nucleotide variant not provided [RCV000973689] Chr5:1219031 [GRCh38]
Chr5:1219146 [GRCh37]
Chr5:5p15.33		 likely benign
NM_001003841.3(SLC6A19):c.420A>G (p.Leu140=) single nucleotide variant not provided [RCV000926457] Chr5:1210520 [GRCh38]
Chr5:1210635 [GRCh37]
Chr5:5p15.33		 likely benign
GRCh37/hg19 5p15.33-15.31(chr5:140474-9792158) copy number loss 5p partial monosomy syndrome [RCV000767710] Chr5:140474..9792158 [GRCh37]
Chr5:5p15.33-15.31		 pathogenic
NM_001003841.3(SLC6A19):c.555G>A (p.Thr185=) single nucleotide variant not provided [RCV000885163] Chr5:1212376 [GRCh38]
Chr5:1212491 [GRCh37]
Chr5:5p15.33		 benign
NM_001003841.3(SLC6A19):c.1002C>T (p.Asp334=) single nucleotide variant not provided [RCV000965684] Chr5:1216672 [GRCh38]
Chr5:1216787 [GRCh37]
Chr5:5p15.33		 benign
NM_001003841.3(SLC6A19):c.813G>A (p.Ala271=) single nucleotide variant not provided [RCV000936753] Chr5:1213991 [GRCh38]
Chr5:1214106 [GRCh37]
Chr5:5p15.33		 benign
NM_001003841.3(SLC6A19):c.888-3C>T single nucleotide variant not provided [RCV000961590] Chr5:1216555 [GRCh38]
Chr5:1216670 [GRCh37]
Chr5:5p15.33		 benign
NM_001003841.3(SLC6A19):c.1044C>T (p.Phe348=) single nucleotide variant not provided [RCV000893552] Chr5:1216816 [GRCh38]
Chr5:1216931 [GRCh37]
Chr5:5p15.33		 likely benign
NM_001003841.3(SLC6A19):c.276C>T (p.Ile92=) single nucleotide variant not provided [RCV000909053] Chr5:1208819 [GRCh38]
Chr5:1208934 [GRCh37]
Chr5:5p15.33		 benign
NM_001003841.3(SLC6A19):c.1065G>A (p.Val355=) single nucleotide variant not provided [RCV000978498] Chr5:1216837 [GRCh38]
Chr5:1216952 [GRCh37]
Chr5:5p15.33		 likely benign
NM_001003841.3(SLC6A19):c.1737G>A (p.Pro579=) single nucleotide variant not provided [RCV000880376] Chr5:1221736 [GRCh38]
Chr5:1221851 [GRCh37]
Chr5:5p15.33		 likely benign
NM_001003841.3(SLC6A19):c.1317C>T (p.Val439=) single nucleotide variant not provided [RCV000937522] Chr5:1219046 [GRCh38]
Chr5:1219161 [GRCh37]
Chr5:5p15.33		 likely benign
NM_001003841.3(SLC6A19):c.1212C>T (p.Thr404=) single nucleotide variant not provided [RCV000884413] Chr5:1218941 [GRCh38]
Chr5:1219056 [GRCh37]
Chr5:5p15.33		 likely benign
NM_001003841.3(SLC6A19):c.775-5C>T single nucleotide variant not provided [RCV000887984] Chr5:1213948 [GRCh38]
Chr5:1214063 [GRCh37]
Chr5:5p15.33		 benign|likely benign
GRCh37/hg19 5p15.33-14.2(chr5:113576-23364376)x1 copy number loss not provided [RCV001005642] Chr5:113576..23364376 [GRCh37]
Chr5:5p15.33-14.2		 pathogenic
GRCh37/hg19 5p15.33-15.32(chr5:113576-5657333)x1 copy number loss not provided [RCV001005645] Chr5:113576..5657333 [GRCh37]
Chr5:5p15.33-15.32		 pathogenic
NM_001003841.3(SLC6A19):c.1888G>A (p.Gly630Arg) single nucleotide variant Neutral 1 amino acid transport defect [RCV000791207] Chr5:1221887 [GRCh38]
Chr5:1222002 [GRCh37]
Chr5:5p15.33		 uncertain significance
GRCh37/hg19 5p15.33(chr5:1120346-1344342)x3 copy number gain not provided [RCV000848966] Chr5:1120346..1344342 [GRCh37]
Chr5:5p15.33		 uncertain significance
GRCh37/hg19 5p15.33-15.2(chr5:113576-11767720)x1 copy number loss not provided [RCV001005644] Chr5:113576..11767720 [GRCh37]
Chr5:5p15.33-15.2		 pathogenic
NC_000005.10:g.(?_218346)_(1295046_?)del deletion Idiopathic Pulmonary Fibrosis [RCV001031825] Chr5:218461..1295161 [GRCh37]
Chr5:5p15.33		 pathogenic
NM_001003841.3(SLC6A19):c.1701+1G>A single nucleotide variant Hyperglycinuria [RCV001262680]|Severe Myopia [RCV000785715] Chr5:1221314 [GRCh38]
Chr5:1221429 [GRCh37]
Chr5:5p15.33		 uncertain significance
GRCh37/hg19 5p15.33(chr5:1088198-1274440)x3 copy number gain not provided [RCV000846463] Chr5:1088198..1274440 [GRCh37]
Chr5:5p15.33		 uncertain significance
GRCh37/hg19 5p15.33(chr5:944046-1541755)x3 copy number gain not provided [RCV001005647] Chr5:944046..1541755 [GRCh37]
Chr5:5p15.33		 uncertain significance
GRCh37/hg19 5p15.33(chr5:953886-1210188)x3 copy number gain not provided [RCV001005648] Chr5:953886..1210188 [GRCh37]
Chr5:5p15.33		 uncertain significance
GRCh37/hg19 5p15.33(chr5:113576-4325585)x1 copy number loss not provided [RCV001005641] Chr5:113576..4325585 [GRCh37]
Chr5:5p15.33		 pathogenic
NM_001003841.3(SLC6A19):c.712C>T (p.Leu238Phe) single nucleotide variant Hyperglycinuria [RCV001250112] Chr5:1213511 [GRCh38]
Chr5:1213626 [GRCh37]
Chr5:5p15.33		 uncertain significance
GRCh37/hg19 5p15.33-14.3(chr5:71904-22078969) copy number loss 5p partial monosomy syndrome [RCV001195139] Chr5:71904..22078969 [GRCh37]
Chr5:5p15.33-14.3		 pathogenic
NM_001003841.3(SLC6A19):c.1603C>T (p.Arg535Cys) single nucleotide variant Hyperglycinuria [RCV001250078] Chr5:1221215 [GRCh38]
Chr5:1221330 [GRCh37]
Chr5:5p15.33		 uncertain significance
NM_001003841.3(SLC6A19):c.810C>T (p.Asp270=) single nucleotide variant not provided [RCV000917030] Chr5:1213988 [GRCh38]
Chr5:1214103 [GRCh37]
Chr5:5p15.33		 likely benign
NM_001003841.3(SLC6A19):c.1611C>A (p.Val537=) single nucleotide variant not provided [RCV000977337] Chr5:1221223 [GRCh38]
Chr5:1221338 [GRCh37]
Chr5:5p15.33		 likely benign
NM_001003841.3(SLC6A19):c.558C>T (p.Ser186=) single nucleotide variant not provided [RCV000960849] Chr5:1212379 [GRCh38]
Chr5:1212494 [GRCh37]
Chr5:5p15.33		 benign
NM_001003841.3(SLC6A19):c.162C>T (p.Asn54=) single nucleotide variant not provided [RCV000914989] Chr5:1201812 [GRCh38]
Chr5:1201927 [GRCh37]
Chr5:5p15.33		 likely benign
NM_001003841.3(SLC6A19):c.966C>T (p.Tyr322=) single nucleotide variant not provided [RCV000974193] Chr5:1216636 [GRCh38]
Chr5:1216751 [GRCh37]
Chr5:5p15.33		 benign
NM_001003841.3(SLC6A19):c.1701C>T (p.Tyr567=) single nucleotide variant not provided [RCV000974194] Chr5:1221313 [GRCh38]
Chr5:1221428 [GRCh37]
Chr5:5p15.33		 benign
NM_001003841.3(SLC6A19):c.897C>T (p.Cys299=) single nucleotide variant not provided [RCV000929057] Chr5:1216567 [GRCh38]
Chr5:1216682 [GRCh37]
Chr5:5p15.33		 likely benign
NM_001003841.3(SLC6A19):c.612A>T (p.Ala204=) single nucleotide variant not provided [RCV000916543] Chr5:1212433 [GRCh38]
Chr5:1212548 [GRCh37]
Chr5:5p15.33		 likely benign
NM_001003841.3(SLC6A19):c.219G>A (p.Pro73=) single nucleotide variant not provided [RCV000938569] Chr5:1208762 [GRCh38]
Chr5:1208877 [GRCh37]
Chr5:5p15.33		 likely benign
NM_001003841.3(SLC6A19):c.327G>A (p.Pro109=) single nucleotide variant not provided [RCV000882641] Chr5:1208870 [GRCh38]
Chr5:1208985 [GRCh37]
Chr5:5p15.33		 benign
NM_001003841.3(SLC6A19):c.117G>A (p.Ala39=) single nucleotide variant not provided [RCV000946829] Chr5:1201767 [GRCh38]
Chr5:1201882 [GRCh37]
Chr5:5p15.33		 benign
NM_001003841.3(SLC6A19):c.664-8C>T single nucleotide variant not provided [RCV000880784] Chr5:1213455 [GRCh38]
Chr5:1213570 [GRCh37]
Chr5:5p15.33		 likely benign
NM_001003841.3(SLC6A19):c.453C>T (p.Ser151=) single nucleotide variant not provided [RCV000898518] Chr5:1210553 [GRCh38]
Chr5:1210668 [GRCh37]
Chr5:5p15.33		 likely benign
GRCh37/hg19 5p15.33(chr5:113576-2485820)x1 copy number loss not provided [RCV001005640] Chr5:113576..2485820 [GRCh37]
Chr5:5p15.33		 likely pathogenic
GRCh37/hg19 5p15.33-15.2(chr5:113576-14738180)x1 copy number loss not provided [RCV001005643] Chr5:113576..14738180 [GRCh37]
Chr5:5p15.33-15.2		 pathogenic
GRCh37/hg19 5p15.33-15.32(chr5:113576-5194484)x1 copy number loss not provided [RCV001005646] Chr5:113576..5194484 [GRCh37]
Chr5:5p15.33-15.32		 pathogenic
NM_001003841.3(SLC6A19):c.156C>T (p.Leu52=) single nucleotide variant not provided [RCV000911284] Chr5:1201806 [GRCh38]
Chr5:1201921 [GRCh37]
Chr5:5p15.33		 benign
NM_001003841.3(SLC6A19):c.1521C>T (p.Tyr507=) single nucleotide variant not provided [RCV000911438] Chr5:1219647 [GRCh38]
Chr5:1219762 [GRCh37]
Chr5:5p15.33		 likely benign
NM_001003841.3(SLC6A19):c.1639C>T (p.Leu547Phe) single nucleotide variant not provided [RCV000889566] Chr5:1221251 [GRCh38]
Chr5:1221366 [GRCh37]
Chr5:5p15.33		 likely benign
NM_001003841.3(SLC6A19):c.774+10C>T single nucleotide variant not provided [RCV000935169] Chr5:1213583 [GRCh38]
Chr5:1213698 [GRCh37]
Chr5:5p15.33		 likely benign
NM_001003841.3(SLC6A19):c.1468G>A (p.Gly490Ser) single nucleotide variant Iminoglycinuria [RCV001197345] Chr5:1219594 [GRCh38]
Chr5:1219709 [GRCh37]
Chr5:5p15.33		 uncertain significance
NC_000005.10:g.(?_218349)_(1297373_?)del deletion Idiopathic Pulmonary Fibrosis [RCV001032442] Chr5:218464..1297488 [GRCh37]
Chr5:5p15.33		 pathogenic
NM_001003841.3(SLC6A19):c.532C>T (p.Arg178Ter) single nucleotide variant Neutral 1 amino acid transport defect [RCV001174897] Chr5:1212353 [GRCh38]
Chr5:1212468 [GRCh37]
Chr5:5p15.33		 pathogenic
GRCh37/hg19 5p15.33(chr5:499883-1309062)x3 copy number gain not provided [RCV001258845] Chr5:499883..1309062 [GRCh37]
Chr5:5p15.33		 likely benign
GRCh37/hg19 5p15.33(chr5:113576-4305172)x1 copy number loss not provided [RCV001258846] Chr5:113576..4305172 [GRCh37]
Chr5:5p15.33		 pathogenic
GRCh37/hg19 5p15.33(chr5:875401-1310234)x3 copy number gain not provided [RCV001258848] Chr5:875401..1310234 [GRCh37]
Chr5:5p15.33		 uncertain significance
GRCh37/hg19 5p15.33(chr5:113576-1286005)x1 copy number loss not provided [RCV001258849] Chr5:113576..1286005 [GRCh37]
Chr5:5p15.33		 uncertain significance
NM_001003841.3(SLC6A19):c.1606G>A (p.Val536Met) single nucleotide variant Neutral 1 amino acid transport defect [RCV001291823] Chr5:1221218 [GRCh38]
Chr5:1221333 [GRCh37]
Chr5:5p15.33		 uncertain significance
NM_001003841.3(SLC6A19):c.539C>T (p.Thr180Met) single nucleotide variant Neutral 1 amino acid transport defect [RCV001333601] Chr5:1212360 [GRCh38]
Chr5:1212475 [GRCh37]
Chr5:5p15.33		 uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:27960 AgrOrtholog
COSMIC SLC6A19 COSMIC
Ensembl Genes ENSG00000174358 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000305302 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000425701 UniProtKB/TrEMBL
Ensembl Transcript ENST00000304460 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000515652 UniProtKB/TrEMBL
GTEx ENSG00000174358 GTEx
HGNC ID HGNC:27960 ENTREZGENE
Human Proteome Map SLC6A19 Human Proteome Map
InterPro Na/ntran_symport UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Neutral_aa_SLC6 UniProtKB/Swiss-Prot
  SNS_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:340024 UniProtKB/Swiss-Prot
NCBI Gene 340024 ENTREZGENE
OMIM 138500 OMIM
  234500 OMIM
  242600 OMIM
  608893 OMIM
PANTHER PTHR11616 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam SNF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134968815 PharmGKB
PRINTS NANEUSMPORT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ORPHTRNSPORT UniProtKB/Swiss-Prot
PROSITE NA_NEUROTRAN_SYMP_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NA_NEUROTRAN_SYMP_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF161070 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt E9PD72_HUMAN UniProtKB/TrEMBL
  L8E8F7_HUMAN UniProtKB/TrEMBL
  Q695T7 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A8K446 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-23 SLC6A19  solute carrier family 6 member 19  SLC6A19  solute carrier family 6 (neutral amino acid transporter), member 19  Symbol and/or name change 5135510 APPROVED