SLC19A2 (solute carrier family 19 member 2) - Rat Genome Database

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Gene: SLC19A2 (solute carrier family 19 member 2) Homo sapiens
Analyze
Symbol: SLC19A2
Name: solute carrier family 19 member 2
RGD ID: 1318484
HGNC Page HGNC:10938
Description: Enables thiamine transmembrane transporter activity. Involved in pyridoxine transport and thiamine transport. Located in plasma membrane. Implicated in diabetes mellitus; megaloblastic anemia; and thiamine-responsive megaloblastic anemia syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: high affinity thiamine transporter; reduced folate carrier protein (RFC) like; solute carrier family 19 (thiamine transporter), member 2; TC1; thiamine transporter 1; thiamine-responsive megaloblastic anaemia; THMD1; THT1; thTr-1; THTR1; TRMA
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381169,463,909 - 169,485,970 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1169,463,909 - 169,485,944 (-)EnsemblGRCh38hg38GRCh38
GRCh371169,433,147 - 169,455,208 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361167,699,791 - 167,721,865 (-)NCBINCBI36Build 36hg18NCBI36
Build 341166,164,825 - 166,186,899NCBI
Celera1142,542,928 - 142,564,985 (-)NCBICelera
Cytogenetic Map1q24.2NCBI
HuRef1140,656,190 - 140,678,233 (-)NCBIHuRef
CHM1_11170,855,181 - 170,877,241 (-)NCBICHM1_1
T2T-CHM13v2.01168,819,254 - 168,841,316 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(1->4)-beta-D-glucan  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
2-hydroxypropanoic acid  (EXP)
3,4-methylenedioxymethamphetamine  (ISO)
4-(N-nitrosomethylamino)-1-(3-pyridyl)butan-1-one  (ISO)
4-hydroxyphenyl retinamide  (ISO)
7,12-dimethyltetraphene  (ISO)
acetamide  (ISO)
aflatoxin B1  (EXP)
aristolochic acid A  (EXP)
arsenite(3-)  (EXP)
atrazine  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
beta-naphthoflavone  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bromobenzene  (ISO)
cadmium dichloride  (ISO)
caffeine  (EXP)
carbamazepine  (EXP)
carbon nanotube  (ISO)
carmustine  (ISO)
chloroprene  (ISO)
choline  (ISO)
chrysene  (ISO)
cisplatin  (EXP)
copper(II) sulfate  (EXP)
crocidolite asbestos  (EXP)
Cuprizon  (ISO)
cyclosporin A  (EXP)
desferrioxamine B  (EXP)
dexamethasone  (EXP)
dibenz[a,h]anthracene  (ISO)
Dibutyl phosphate  (EXP)
diclofenac  (ISO)
dieldrin  (ISO)
dioxygen  (EXP,ISO)
doxorubicin  (EXP)
elemental selenium  (EXP)
elesclomol  (EXP)
fenthion  (ISO)
flutamide  (ISO)
folic acid  (ISO)
FR900359  (EXP)
furan  (ISO)
gentamycin  (ISO)
heptachlor  (ISO)
hydralazine  (EXP)
indometacin  (EXP)
inulin  (ISO)
L-methionine  (ISO)
leflunomide  (EXP,ISO)
melphalan  (EXP)
metformin  (ISO)
methidathion  (ISO)
methotrexate  (ISO)
mirex  (ISO)
N-acetyl-L-cysteine  (EXP)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
nefazodone  (ISO)
nickel sulfate  (EXP)
nimesulide  (ISO)
oxaliplatin  (ISO)
ozone  (ISO)
paracetamol  (EXP,ISO)
paraquat  (ISO)
perfluorooctane-1-sulfonic acid  (EXP,ISO)
perfluorooctanoic acid  (EXP)
phenobarbital  (EXP)
pirinixic acid  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
progesterone  (EXP)
rac-lactic acid  (EXP)
selenium atom  (EXP)
silicon dioxide  (EXP)
sodium arsenite  (ISO)
sunitinib  (EXP)
tert-butyl hydroperoxide  (EXP)
tetrachloromethane  (ISO)
tetraphene  (ISO)
thiamine(1+) chloride  (EXP,ISO)
thioacetamide  (ISO)
tioguanine  (ISO)
titanium dioxide  (ISO)
topotecan  (ISO)
trichloroethene  (ISO)
triphenyl phosphate  (EXP)
troglitazone  (ISO)
trovafloxacin  (ISO)
tungsten  (ISO)
valproic acid  (EXP,ISO)
zearalenone  (EXP)
zidovudine  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
membrane  (IEA,NAS)
plasma membrane  (IBA,IDA,IEA,TAS)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Effect of chronic kidney disease on the expression of thiamin and folic acid transporters. Bukhari FJ, etal., Nephrol Dial Transplant. 2011 Jul;26(7):2137-44. doi: 10.1093/ndt/gfq675. Epub 2010 Dec 13.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness. Labay V, etal., Nat Genet. 1999 Jul;22(3):300-4.
4. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
5. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
6. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
7. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
8. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:3060175   PMID:8889548   PMID:9399900   PMID:10391222   PMID:10391223   PMID:10542220   PMID:10874303   PMID:10978358   PMID:11286512   PMID:12065289   PMID:12227830   PMID:12454006  
PMID:12477932   PMID:12900388   PMID:14615284   PMID:14622275   PMID:14994241   PMID:15952116   PMID:16015585   PMID:16055442   PMID:16344560   PMID:16371350   PMID:16373304   PMID:16705148  
PMID:16710414   PMID:17331069   PMID:17463047   PMID:17659067   PMID:18029348   PMID:19064610   PMID:19322201   PMID:19340000   PMID:19423748   PMID:19536175   PMID:19731322   PMID:19913121  
PMID:20301459   PMID:20466634   PMID:20628086   PMID:21836059   PMID:21873635   PMID:21980494   PMID:21988832   PMID:22369132   PMID:22876572   PMID:23285265   PMID:23289844   PMID:23454484  
PMID:23589815   PMID:23638917   PMID:23642734   PMID:24072090   PMID:24355766   PMID:24357267   PMID:24509276   PMID:24520986   PMID:24771227   PMID:24952745   PMID:25707023   PMID:26186194  
PMID:26871637   PMID:28371426   PMID:28514442   PMID:29969779   PMID:30833467   PMID:31073040   PMID:31296181   PMID:31951336   PMID:32393512   PMID:32498429   PMID:32683950   PMID:33008889  
PMID:33060197   PMID:33649974   PMID:33845483   PMID:33961781   PMID:35271311   PMID:35512554   PMID:35686496   PMID:35724964  


Genomics

Comparative Map Data
SLC19A2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381169,463,909 - 169,485,970 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1169,463,909 - 169,485,944 (-)EnsemblGRCh38hg38GRCh38
GRCh371169,433,147 - 169,455,208 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361167,699,791 - 167,721,865 (-)NCBINCBI36Build 36hg18NCBI36
Build 341166,164,825 - 166,186,899NCBI
Celera1142,542,928 - 142,564,985 (-)NCBICelera
Cytogenetic Map1q24.2NCBI
HuRef1140,656,190 - 140,678,233 (-)NCBIHuRef
CHM1_11170,855,181 - 170,877,241 (-)NCBICHM1_1
T2T-CHM13v2.01168,819,254 - 168,841,316 (-)NCBIT2T-CHM13v2.0
Slc19a2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391164,076,615 - 164,092,954 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1164,076,615 - 164,092,954 (+)EnsemblGRCm39 Ensembl
GRCm381164,249,046 - 164,265,385 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1164,249,046 - 164,265,385 (+)EnsemblGRCm38mm10GRCm38
MGSCv371166,179,186 - 166,195,500 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361166,085,730 - 166,102,044 (+)NCBIMGSCv36mm8
Celera1166,660,848 - 166,702,585 (+)NCBICelera
Cytogenetic Map1H2.2NCBI
cM Map171.56NCBI
Slc19a2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81379,135,118 - 79,149,316 (+)NCBIGRCr8
mRatBN7.21376,601,975 - 76,616,175 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1376,601,900 - 76,616,172 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1379,220,427 - 79,234,615 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01380,524,434 - 80,538,620 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01377,779,112 - 77,793,296 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01382,552,586 - 82,566,586 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1382,552,550 - 82,566,586 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01387,436,626 - 87,450,479 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41380,017,780 - 80,031,777 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11380,031,967 - 80,045,928 (+)NCBI
Celera1376,335,951 - 76,350,141 (+)NCBICelera
Cytogenetic Map13q23NCBI
Slc19a2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554627,786,913 - 7,805,792 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554627,786,920 - 7,804,828 (+)NCBIChiLan1.0ChiLan1.0
SLC19A2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2180,283,266 - 80,305,302 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1179,951,685 - 79,973,705 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01144,946,248 - 144,968,736 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11148,668,687 - 148,690,713 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1148,668,687 - 148,690,713 (-)Ensemblpanpan1.1panPan2
SLC19A2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1729,094,341 - 29,114,319 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl729,094,101 - 29,113,249 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha728,625,929 - 28,645,880 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0728,896,300 - 28,916,259 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl728,896,045 - 28,914,377 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1728,744,718 - 28,764,672 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0728,780,311 - 28,800,248 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0729,017,158 - 29,037,096 (+)NCBIUU_Cfam_GSD_1.0
Slc19a2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934499,350,348 - 99,381,143 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493648117,197,095 - 17,227,891 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493648117,197,133 - 17,225,435 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SLC19A2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl481,510,098 - 81,536,464 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1481,510,221 - 81,535,099 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2489,134,887 - 89,159,766 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SLC19A2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12559,568,801 - 59,587,398 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2559,568,893 - 59,585,094 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605561,243,780 - 61,261,916 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Slc19a2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248267,380,827 - 7,400,665 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248267,382,158 - 7,400,702 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SLC19A2
349 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_006996.3(SLC19A2):c.725del (p.Pro242fs) deletion Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000006320]|not provided [RCV003555937] Chr1:169477237 [GRCh38]
Chr1:169446475 [GRCh37]
Chr1:1q24.2
pathogenic
NM_006996.3(SLC19A2):c.885del (p.Leu296fs) deletion Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000006323] Chr1:169470109 [GRCh38]
Chr1:169439347 [GRCh37]
Chr1:1q24.2
pathogenic
NM_006996.3(SLC19A2):c.1148_1149del (p.Val383fs) microsatellite Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000006324] Chr1:169468718..169468719 [GRCh38]
Chr1:169437956..169437957 [GRCh37]
Chr1:1q24.2
pathogenic
NM_006996.3(SLC19A2):c.242dup (p.Tyr81Ter) duplication Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000006325]|not provided [RCV003555938] Chr1:169477719..169477720 [GRCh38]
Chr1:169446957..169446958 [GRCh37]
Chr1:1q24.2
pathogenic
NM_006996.3(SLC19A2):c.429_430del (p.Ile145fs) deletion Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000006326] Chr1:169477532..169477533 [GRCh38]
Chr1:169446770..169446771 [GRCh37]
Chr1:1q24.2
pathogenic
NM_006996.3(SLC19A2):c.484C>T (p.Arg162Ter) single nucleotide variant Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000006319]|not provided [RCV003555936] Chr1:169477478 [GRCh38]
Chr1:169446716 [GRCh37]
Chr1:1q24.2
pathogenic
NM_006996.3(SLC19A2):c.515G>A (p.Gly172Asp) single nucleotide variant Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000006321]|not provided [RCV000486790] Chr1:169477447 [GRCh38]
Chr1:169446685 [GRCh37]
Chr1:1q24.2
pathogenic
NM_006996.3(SLC19A2):c.750G>A (p.Trp250Ter) single nucleotide variant Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000006322]|not provided [RCV002512828] Chr1:169477212 [GRCh38]
Chr1:169446450 [GRCh37]
Chr1:1q24.2
pathogenic
NM_006996.3(SLC19A2):c.1074G>A (p.Trp358Ter) single nucleotide variant Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000006327] Chr1:169468793 [GRCh38]
Chr1:169438031 [GRCh37]
Chr1:1q24.2
pathogenic
NM_006996.3(SLC19A2):c.152C>T (p.Pro51Leu) single nucleotide variant Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000006328]|not provided [RCV003555939] Chr1:169485615 [GRCh38]
Chr1:169454853 [GRCh37]
Chr1:1q24.2
pathogenic|uncertain significance
GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3 copy number gain See cases [RCV000051854] Chr1:157747246..176021247 [GRCh38]
Chr1:157717036..175990383 [GRCh37]
Chr1:155983660..174257006 [NCBI36]
Chr1:1q23.1-25.1
pathogenic
GRCh38/hg38 1q23.3-25.2(chr1:164922655-180061589)x3 copy number gain See cases [RCV000051856] Chr1:164922655..180061589 [GRCh38]
Chr1:164891892..180030724 [GRCh37]
Chr1:163158516..178297347 [NCBI36]
Chr1:1q23.3-25.2
pathogenic
GRCh38/hg38 1q24.2-25.1(chr1:168314822-175299299)x1 copy number loss See cases [RCV000053918] Chr1:168314822..175299299 [GRCh38]
Chr1:168284060..175268435 [GRCh37]
Chr1:166550684..173535058 [NCBI36]
Chr1:1q24.2-25.1
pathogenic
GRCh38/hg38 1q23.3-25.1(chr1:161740907-173965154)x1 copy number loss See cases [RCV000053914] Chr1:161740907..173965154 [GRCh38]
Chr1:161710697..173934292 [GRCh37]
Chr1:159977321..172200915 [NCBI36]
Chr1:1q23.3-25.1
pathogenic
GRCh38/hg38 1q23.3-24.3(chr1:164036599-171252077)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053916]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053916]|See cases [RCV000053916] Chr1:164036599..171252077 [GRCh38]
Chr1:164005836..171221216 [GRCh37]
Chr1:162272460..169487840 [NCBI36]
Chr1:1q23.3-24.3
pathogenic
GRCh38/hg38 1q24.1-25.1(chr1:166762832-175327423)x1 copy number loss See cases [RCV000053917] Chr1:166762832..175327423 [GRCh38]
Chr1:166732069..175296559 [GRCh37]
Chr1:164998693..173563182 [NCBI36]
Chr1:1q24.1-25.1
pathogenic
NM_006996.3(SLC19A2):c.980G>T (p.Arg327Leu) single nucleotide variant Monogenic diabetes [RCV000664077] Chr1:169470014 [GRCh38]
Chr1:169439252 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.-4C>T single nucleotide variant Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000377830]|Thiamine-responsive megaloblastic anemia [RCV000262382]|not provided [RCV004714457]|not specified [RCV000118355] Chr1:169485770 [GRCh38]
Chr1:169455008 [GRCh37]
Chr1:1q24.2
benign
NM_006996.3(SLC19A2):c.1080T>C (p.Thr360=) single nucleotide variant Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000313965]|Thiamine-responsive megaloblastic anemia [RCV000406183]|not provided [RCV000890751]|not specified [RCV000118356] Chr1:169468787 [GRCh38]
Chr1:169438025 [GRCh37]
Chr1:1q24.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_006996.3(SLC19A2):c.1215G>A (p.Thr405=) single nucleotide variant Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000356722]|SLC19A2-related disorder [RCV003975044]|Thiamine-responsive megaloblastic anemia [RCV000299527]|not provided [RCV000974872]|not specified [RCV000118357] Chr1:169468652 [GRCh38]
Chr1:169437890 [GRCh37]
Chr1:1q24.2
benign|likely benign|conflicting interpretations of pathogenicity
GRCh38/hg38 1q24.2-25.2(chr1:169218236-178075834)x1 copy number loss See cases [RCV000137128] Chr1:169218236..178075834 [GRCh38]
Chr1:169187474..178044969 [GRCh37]
Chr1:167454098..176311592 [NCBI36]
Chr1:1q24.2-25.2
pathogenic
GRCh38/hg38 1q23.3-25.1(chr1:163382523-175877022)x1 copy number loss See cases [RCV000143292] Chr1:163382523..175877022 [GRCh38]
Chr1:163352313..175846158 [GRCh37]
Chr1:161618937..174112781 [NCBI36]
Chr1:1q23.3-25.1
pathogenic
GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3 copy number gain See cases [RCV000143515] Chr1:149854269..180267197 [GRCh38]
Chr1:149825831..180236332 [GRCh37]
Chr1:148092455..178502955 [NCBI36]
Chr1:1q21.2-25.2
pathogenic
GRCh37/hg19 1q23.2-25.1(chr1:160369890-175796325) copy number loss not provided [RCV000767779] Chr1:160369890..175796325 [GRCh37]
Chr1:1q23.2-25.1
pathogenic
NM_006996.3(SLC19A2):c.*638G>A single nucleotide variant Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000263607]|Thiamine-responsive megaloblastic anemia [RCV000356044] Chr1:169465211 [GRCh38]
Chr1:169434449 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.796G>A (p.Val266Met) single nucleotide variant Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000272929]|Monogenic diabetes [RCV000445536]|Thiamine-responsive megaloblastic anemia [RCV000325732]|not provided [RCV000894413]|not specified [RCV000440688] Chr1:169477166 [GRCh38]
Chr1:169446404 [GRCh37]
Chr1:1q24.2
benign|uncertain significance
NM_006996.3(SLC19A2):c.561G>T (p.Leu187=) single nucleotide variant Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000336726]|Thiamine-responsive megaloblastic anemia [RCV000284049]|not provided [RCV000899641] Chr1:169477401 [GRCh38]
Chr1:169446639 [GRCh37]
Chr1:1q24.2
benign|likely benign|uncertain significance
NM_006996.3(SLC19A2):c.487A>T (p.Ser163Cys) single nucleotide variant Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000408034]|Thiamine-responsive megaloblastic anemia [RCV000278045]|not provided [RCV001859756] Chr1:169477475 [GRCh38]
Chr1:169446713 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.795C>T (p.Pro265=) single nucleotide variant Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000285999]|Thiamine-responsive megaloblastic anemia [RCV000382662]|not provided [RCV002059352]|not specified [RCV000441700] Chr1:169477167 [GRCh38]
Chr1:169446405 [GRCh37]
Chr1:1q24.2
benign|likely benign|uncertain significance
NM_006996.3(SLC19A2):c.1436T>C (p.Met479Thr) single nucleotide variant Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000392757]|Thiamine-responsive megaloblastic anemia [RCV000286824]|not provided [RCV002244744] Chr1:169465907 [GRCh38]
Chr1:169435145 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.1486A>G (p.Thr496Ala) single nucleotide variant Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000345246]|Thiamine-responsive megaloblastic anemia [RCV000287472]|not provided [RCV000994163] Chr1:169465857 [GRCh38]
Chr1:169435095 [GRCh37]
Chr1:1q24.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006996.3(SLC19A2):c.807+6C>G single nucleotide variant Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000365236]|Thiamine-responsive megaloblastic anemia [RCV000331390] Chr1:169477149 [GRCh38]
Chr1:169446387 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.639G>A (p.Lys213=) single nucleotide variant Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000324690]|Thiamine-responsive megaloblastic anemia [RCV000376986]|not provided [RCV000908709] Chr1:169477323 [GRCh38]
Chr1:169446561 [GRCh37]
Chr1:1q24.2
benign|likely benign|uncertain significance
NM_006996.3(SLC19A2):c.283C>T (p.Leu95Phe) single nucleotide variant Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000335476]|Thiamine-responsive megaloblastic anemia [RCV000404561]|not provided [RCV002519406]|not specified [RCV003151014] Chr1:169477679 [GRCh38]
Chr1:169446917 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.212A>G (p.Asn71Ser) single nucleotide variant Inborn genetic diseases [RCV002519407]|Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000315438]|Thiamine-responsive megaloblastic anemia [RCV000349355]|not provided [RCV002282114] Chr1:169477750 [GRCh38]
Chr1:169446988 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.1322T>C (p.Ile441Thr) single nucleotide variant Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000403152]|Thiamine-responsive megaloblastic anemia [RCV000339438]|not provided [RCV000960822]|not specified [RCV000305064] Chr1:169468154 [GRCh38]
Chr1:169437392 [GRCh37]
Chr1:1q24.2
benign|likely benign
NM_006996.3(SLC19A2):c.*1901AATA[1] microsatellite Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000268423]|Thiamine-responsive megaloblastic anemia [RCV000362996] Chr1:169463941..169463944 [GRCh38]
Chr1:169433179..169433182 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.*1524C>T single nucleotide variant Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000351699]|Thiamine-responsive megaloblastic anemia [RCV000389829]|not provided [RCV001840480] Chr1:169464325 [GRCh38]
Chr1:169433563 [GRCh37]
Chr1:1q24.2
benign|likely benign|uncertain significance
NM_006996.3(SLC19A2):c.-12C>G single nucleotide variant Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000319771]|Thiamine-responsive megaloblastic anemia [RCV000372263]|not specified [RCV000418534] Chr1:169485778 [GRCh38]
Chr1:169455016 [GRCh37]
Chr1:1q24.2
likely benign|uncertain significance
NM_006996.2(SLC19A2):c.-196C>A single nucleotide variant Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000344782]|Thiamine-responsive megaloblastic anemia [RCV000306344]|not provided [RCV001568514] Chr1:169485962 [GRCh38]
Chr1:169455200 [GRCh37]
Chr1:1q24.2
likely benign|uncertain significance
NM_006996.3(SLC19A2):c.*1814G>A single nucleotide variant Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000378252]|Thiamine-responsive megaloblastic anemia [RCV000323548]|not provided [RCV004710728] Chr1:169464035 [GRCh38]
Chr1:169433273 [GRCh37]
Chr1:1q24.2
benign|likely benign
NM_006996.3(SLC19A2):c.*255A>T single nucleotide variant Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000385689]|Thiamine-responsive megaloblastic anemia [RCV000293447] Chr1:169465594 [GRCh38]
Chr1:169434832 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.-114C>T single nucleotide variant Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000293499]|Thiamine-responsive megaloblastic anemia [RCV000385602]|not provided [RCV003409439] Chr1:169485880 [GRCh38]
Chr1:169455118 [GRCh37]
Chr1:1q24.2
likely benign|uncertain significance
NM_006996.3(SLC19A2):c.*967A>G single nucleotide variant Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000344558]|Thiamine-responsive megaloblastic anemia [RCV000405506]|not provided [RCV004714696] Chr1:169464882 [GRCh38]
Chr1:169434120 [GRCh37]
Chr1:1q24.2
benign
NM_006996.3(SLC19A2):c.*60G>A single nucleotide variant Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000384179]|Thiamine-responsive megaloblastic anemia [RCV000327336]|not provided [RCV001651334] Chr1:169465789 [GRCh38]
Chr1:169435027 [GRCh37]
Chr1:1q24.2
benign
NM_006996.3(SLC19A2):c.205-25_205-24dup duplication Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000366500]|Thiamine-responsive megaloblastic anemia [RCV000269747] Chr1:169477770..169477771 [GRCh38]
Chr1:169447008..169447009 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.205-25dup duplication Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000309439]|Thiamine-responsive megaloblastic anemia [RCV000405384]|not provided [RCV001610797] Chr1:169477770..169477771 [GRCh38]
Chr1:169447008..169447009 [GRCh37]
Chr1:1q24.2
benign|uncertain significance
NM_006996.3(SLC19A2):c.845T>C (p.Leu282Pro) single nucleotide variant Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000370916]|Thiamine-responsive megaloblastic anemia [RCV000273956] Chr1:169470149 [GRCh38]
Chr1:169439387 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.*390T>G single nucleotide variant Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000276052]|Thiamine-responsive megaloblastic anemia [RCV000333435] Chr1:169465459 [GRCh38]
Chr1:169434697 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.*1588T>G single nucleotide variant Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000317957]|Thiamine-responsive megaloblastic anemia [RCV000265221] Chr1:169464261 [GRCh38]
Chr1:169433499 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.-2G>A single nucleotide variant Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000268197]|Thiamine-responsive megaloblastic anemia [RCV000320836] Chr1:169485768 [GRCh38]
Chr1:169455006 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.-103G>A single nucleotide variant Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000280078]|Thiamine-responsive megaloblastic anemia [RCV000352008] Chr1:169485869 [GRCh38]
Chr1:169455107 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.*1539CTGT[1] microsatellite Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000280291]|Thiamine-responsive megaloblastic anemia [RCV000374889] Chr1:169464303..169464306 [GRCh38]
Chr1:169433541..169433544 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.550G>A (p.Gly184Ser) single nucleotide variant Inborn genetic diseases [RCV004021232]|not provided [RCV000301820] Chr1:169477412 [GRCh38]
Chr1:169446650 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.*712dup duplication Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000394218]|Thiamine-responsive megaloblastic anemia [RCV000303536] Chr1:169465136..169465137 [GRCh38]
Chr1:169434374..169434375 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.-163G>T single nucleotide variant Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000346041]|Thiamine-responsive megaloblastic anemia [RCV000392331] Chr1:169485929 [GRCh38]
Chr1:169455167 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.*898_*899del deletion Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000304559]|Thiamine-responsive megaloblastic anemia [RCV000361586] Chr1:169464950..169464951 [GRCh38]
Chr1:169434188..169434189 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.*1523A>G single nucleotide variant Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000293233]|Thiamine-responsive megaloblastic anemia [RCV000350338] Chr1:169464326 [GRCh38]
Chr1:169433564 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.*627C>T single nucleotide variant Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000354380]|Thiamine-responsive megaloblastic anemia [RCV000316436] Chr1:169465222 [GRCh38]
Chr1:169434460 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.10C>T (p.Pro4Ser) single nucleotide variant Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000308450]|Thiamine-responsive megaloblastic anemia [RCV000360533] Chr1:169485757 [GRCh38]
Chr1:169454995 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.*1493G>A single nucleotide variant Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000406280]|Thiamine-responsive megaloblastic anemia [RCV000310679] Chr1:169464356 [GRCh38]
Chr1:169433594 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.-20C>A single nucleotide variant not specified [RCV000600370] Chr1:169485786 [GRCh38]
Chr1:169455024 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.1082G>A (p.Trp361Ter) single nucleotide variant Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000583923] Chr1:169468785 [GRCh38]
Chr1:169438023 [GRCh37]
Chr1:1q24.2
pathogenic
NM_006996.3(SLC19A2):c.428C>T (p.Ser143Phe) single nucleotide variant Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000582702]|not provided [RCV002530823] Chr1:169477534 [GRCh38]
Chr1:169446772 [GRCh37]
Chr1:1q24.2
pathogenic
NM_006996.3(SLC19A2):c.179C>G (p.Pro60Arg) single nucleotide variant Inborn genetic diseases [RCV002532629]|not provided [RCV000598400] Chr1:169485588 [GRCh38]
Chr1:169454826 [GRCh37]
Chr1:1q24.2
uncertain significance
GRCh37/hg19 1q23.3-25.3(chr1:161676893-184071723)x1 copy number loss See cases [RCV000447098] Chr1:161676893..184071723 [GRCh37]
Chr1:1q23.3-25.3
pathogenic
NM_006996.3(SLC19A2):c.-23G>C single nucleotide variant Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV001096953]|not specified [RCV000420807] Chr1:169485789 [GRCh38]
Chr1:169455027 [GRCh37]
Chr1:1q24.2
benign|likely benign
NM_006996.3(SLC19A2):c.1278A>G (p.Val426=) single nucleotide variant SLC19A2-related disorder [RCV003942404]|not provided [RCV000903071] Chr1:169468198 [GRCh38]
Chr1:169437436 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.824G>T (p.Arg275Leu) single nucleotide variant Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV003114575]|Monogenic diabetes [RCV000445482]|not provided [RCV000907752] Chr1:169470170 [GRCh38]
Chr1:169439408 [GRCh37]
Chr1:1q24.2
likely benign|uncertain significance
NM_006996.3(SLC19A2):c.1223+9_1223+19delinsG indel not specified [RCV000481075] Chr1:169468625..169468635 [GRCh38]
Chr1:169437863..169437873 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.319A>G (p.Ser107Gly) single nucleotide variant Thiamine-responsive megaloblastic anemia [RCV000509304]|not provided [RCV003151781] Chr1:169477643 [GRCh38]
Chr1:169446881 [GRCh37]
Chr1:1q24.2
uncertain significance|not provided
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_006996.3(SLC19A2):c.807+2T>G single nucleotide variant Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000762862]|not provided [RCV000498583] Chr1:169477153 [GRCh38]
Chr1:169446391 [GRCh37]
Chr1:1q24.2
likely pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_006996.3(SLC19A2):c.870C>T (p.Tyr290=) single nucleotide variant not provided [RCV003679009]|not specified [RCV000606814] Chr1:169470124 [GRCh38]
Chr1:169439362 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.1031-21dup duplication not provided [RCV002528730]|not specified [RCV000612339] Chr1:169468849..169468850 [GRCh38]
Chr1:169438087..169438088 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.1030+19T>C single nucleotide variant not provided [RCV002064183]|not specified [RCV000609775] Chr1:169469945 [GRCh38]
Chr1:169439183 [GRCh37]
Chr1:1q24.2
benign|likely benign
NM_006996.3(SLC19A2):c.1367T>A (p.Phe456Tyr) single nucleotide variant Inborn genetic diseases [RCV003270178] Chr1:169465976 [GRCh38]
Chr1:169435214 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.1366-16C>T single nucleotide variant not specified [RCV000613104] Chr1:169465993 [GRCh38]
Chr1:169435231 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.633A>G (p.Pro211=) single nucleotide variant not provided [RCV002531695]|not specified [RCV000614001] Chr1:169477329 [GRCh38]
Chr1:169446567 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.1223+13del deletion not provided [RCV002065304]|not specified [RCV000608686] Chr1:169468631 [GRCh38]
Chr1:169437869 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.1014C>G (p.Ala338=) single nucleotide variant Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV001098609]|not provided [RCV000919987] Chr1:169469980 [GRCh38]
Chr1:169439218 [GRCh37]
Chr1:1q24.2
likely benign|uncertain significance
NM_006996.3(SLC19A2):c.399C>T (p.Ile133=) single nucleotide variant not provided [RCV003767565]|not specified [RCV000606422] Chr1:169477563 [GRCh38]
Chr1:169446801 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.1001G>A (p.Gly334Asp) single nucleotide variant Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV002267620]|not provided [RCV000657925] Chr1:169469993 [GRCh38]
Chr1:169439231 [GRCh37]
Chr1:1q24.2
pathogenic|likely pathogenic
NM_006996.3(SLC19A2):c.807+81del deletion not provided [RCV001564979] Chr1:169477074 [GRCh38]
Chr1:169446312 [GRCh37]
Chr1:1q24.2
likely benign
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_006996.3(SLC19A2):c.584_585del (p.Leu195fs) deletion Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000735816] Chr1:169477377..169477378 [GRCh38]
Chr1:169446615..169446616 [GRCh37]
Chr1:1q24.2
pathogenic
NM_006996.3(SLC19A2):c.64_70del (p.Thr22fs) deletion Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000735817] Chr1:169485697..169485703 [GRCh38]
Chr1:169454935..169454941 [GRCh37]
Chr1:1q24.2
pathogenic
GRCh37/hg19 1q23.2-25.2(chr1:159815642-177026983)x1 copy number loss not provided [RCV000736717] Chr1:159815642..177026983 [GRCh37]
Chr1:1q23.2-25.2
pathogenic
Single allele deletion 1q24q25 microdeletion syndrome [RCV000754969] Chr1:169095250..175778910 [GRCh37]
Chr1:1q24.2-25.1
pathogenic
NM_006996.3(SLC19A2):c.807+137TTCA[5] microsatellite not provided [RCV001547092] Chr1:169476995..169476998 [GRCh38]
Chr1:169446233..169446236 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.808-85G>C single nucleotide variant not provided [RCV001567887] Chr1:169470271 [GRCh38]
Chr1:169439509 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.205-296G>T single nucleotide variant not provided [RCV001583151] Chr1:169478053 [GRCh38]
Chr1:169447291 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.1380C>T (p.Ala460=) single nucleotide variant not provided [RCV000898211] Chr1:169465963 [GRCh38]
Chr1:169435201 [GRCh37]
Chr1:1q24.2
likely benign
NC_000001.11:g.169477377_169477378delAA deletion Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000781958] Chr1:169477377..169477378 [GRCh38]
Chr1:169446615..169446616 [GRCh37]
Chr1:1q24.2
pathogenic
NC_000001.11:g.169485697_169485703delGAGCGGT deletion Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000781959] Chr1:169485697..169485703 [GRCh38]
Chr1:169454935..169454941 [GRCh37]
Chr1:1q24.2
pathogenic
NM_006996.3(SLC19A2):c.808-1G>A single nucleotide variant Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000778194] Chr1:169470187 [GRCh38]
Chr1:169439425 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.688A>T (p.Ile230Phe) single nucleotide variant Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000778195]|not provided [RCV001856152] Chr1:169477274 [GRCh38]
Chr1:169446512 [GRCh37]
Chr1:1q24.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006996.3(SLC19A2):c.270T>G (p.Leu90=) single nucleotide variant not provided [RCV000907970] Chr1:169477692 [GRCh38]
Chr1:169446930 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.144G>A (p.Pro48=) single nucleotide variant not provided [RCV000921157] Chr1:169485623 [GRCh38]
Chr1:169454861 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.843A>G (p.Val281=) single nucleotide variant not provided [RCV000920070] Chr1:169470151 [GRCh38]
Chr1:169439389 [GRCh37]
Chr1:1q24.2
likely benign
GRCh37/hg19 1q24.2-25.3(chr1:169423492-180367623) copy number gain not provided [RCV000767621] Chr1:169423492..180367623 [GRCh37]
Chr1:1q24.2-25.3
pathogenic
GRCh37/hg19 1q24.2-25.1(chr1:167430471-174635618)x1 copy number loss not provided [RCV001005149] Chr1:167430471..174635618 [GRCh37]
Chr1:1q24.2-25.1
pathogenic
NM_006996.2(SLC19A2):c.-431C>G single nucleotide variant not provided [RCV000844033] Chr1:169486197 [GRCh38]
Chr1:169455435 [GRCh37]
Chr1:1q24.2
benign
NM_006996.3(SLC19A2):c.1093A>T (p.Thr365Ser) single nucleotide variant Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV003117613]|not provided [RCV000837957] Chr1:169468774 [GRCh38]
Chr1:169438012 [GRCh37]
Chr1:1q24.2
benign|likely benign
GRCh37/hg19 1q24.2(chr1:169371524-169496812)x3 copy number gain not provided [RCV000848429] Chr1:169371524..169496812 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.1031-106T>C single nucleotide variant not provided [RCV000835599] Chr1:169468942 [GRCh38]
Chr1:169438180 [GRCh37]
Chr1:1q24.2
benign
NM_006996.3(SLC19A2):c.1366-184C>T single nucleotide variant not provided [RCV000832519] Chr1:169466161 [GRCh38]
Chr1:169435399 [GRCh37]
Chr1:1q24.2
benign
NM_006996.3(SLC19A2):c.1365+196G>T single nucleotide variant not provided [RCV000832911] Chr1:169467915 [GRCh38]
Chr1:169437153 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.*1928T>C single nucleotide variant Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV001098505] Chr1:169463921 [GRCh38]
Chr1:169433159 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.*1927C>T single nucleotide variant Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV001098506] Chr1:169463922 [GRCh38]
Chr1:169433160 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.909C>G (p.Ala303=) single nucleotide variant Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV001098611]|not provided [RCV003769056] Chr1:169470085 [GRCh38]
Chr1:169439323 [GRCh37]
Chr1:1q24.2
likely benign|uncertain significance
NM_006996.3(SLC19A2):c.588C>T (p.Thr196=) single nucleotide variant SLC19A2-related disorder [RCV003970616]|not provided [RCV000939433] Chr1:169477374 [GRCh38]
Chr1:169446612 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.204+17C>T single nucleotide variant not provided [RCV000840226] Chr1:169485546 [GRCh38]
Chr1:169454784 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.205-284T>G single nucleotide variant not provided [RCV000844036] Chr1:169478041 [GRCh38]
Chr1:169447279 [GRCh37]
Chr1:1q24.2
benign
NM_006996.3(SLC19A2):c.807+210T>C single nucleotide variant not provided [RCV000844037] Chr1:169476945 [GRCh38]
Chr1:169446183 [GRCh37]
Chr1:1q24.2
benign
NM_006996.3(SLC19A2):c.1366-55A>G single nucleotide variant not provided [RCV000838351] Chr1:169466032 [GRCh38]
Chr1:169435270 [GRCh37]
Chr1:1q24.2
likely benign
GRCh37/hg19 1q24.2(chr1:169148346-169806006)x1 copy number loss not provided [RCV001005151] Chr1:169148346..169806006 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.1291G>T (p.Ala431Ser) single nucleotide variant not provided [RCV000992765] Chr1:169468185 [GRCh38]
Chr1:169437423 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.98C>A (p.Pro33Gln) single nucleotide variant Monogenic diabetes [RCV001174381]|not provided [RCV002559674] Chr1:169485669 [GRCh38]
Chr1:169454907 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.*1421A>G single nucleotide variant Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV001100265]|not provided [RCV001785777] Chr1:169464428 [GRCh38]
Chr1:169433666 [GRCh37]
Chr1:1q24.2
benign|likely benign
NM_006996.3(SLC19A2):c.*1186A>G single nucleotide variant Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV001100268] Chr1:169464663 [GRCh38]
Chr1:169433901 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.205-13C>T single nucleotide variant not provided [RCV001582305] Chr1:169477770 [GRCh38]
Chr1:169447008 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.1450A>T (p.Lys484Ter) single nucleotide variant not provided [RCV001665342] Chr1:169465893 [GRCh38]
Chr1:169435131 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.808-79_808-68del deletion not provided [RCV001578225] Chr1:169470254..169470265 [GRCh38]
Chr1:169439492..169439503 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.1245C>T (p.Leu415=) single nucleotide variant not provided [RCV000939690] Chr1:169468231 [GRCh38]
Chr1:169437469 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.1031-6C>T single nucleotide variant not provided [RCV000952462] Chr1:169468842 [GRCh38]
Chr1:169438080 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.12C>T (p.Pro4=) single nucleotide variant not provided [RCV000910969] Chr1:169485755 [GRCh38]
Chr1:169454993 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.30G>A (p.Arg10=) single nucleotide variant Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV001102363]|not provided [RCV003546618] Chr1:169485737 [GRCh38]
Chr1:169454975 [GRCh37]
Chr1:1q24.2
likely benign|uncertain significance
NM_006996.3(SLC19A2):c.1276G>A (p.Val426Ile) single nucleotide variant Inborn genetic diseases [RCV002558768]|Monogenic diabetes [RCV001174380] Chr1:169468200 [GRCh38]
Chr1:169437438 [GRCh37]
Chr1:1q24.2
likely benign|uncertain significance
NM_006996.3(SLC19A2):c.200G>C (p.Arg67Thr) single nucleotide variant Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV001102360]|not provided [RCV000994164] Chr1:169485567 [GRCh38]
Chr1:169454805 [GRCh37]
Chr1:1q24.2
likely benign|uncertain significance
NM_006996.3(SLC19A2):c.1030+115G>A single nucleotide variant not provided [RCV001552332] Chr1:169469849 [GRCh38]
Chr1:169439087 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.1366-125G>C single nucleotide variant not provided [RCV001555232] Chr1:169466102 [GRCh38]
Chr1:169435340 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.1224-106_1224-104del microsatellite not provided [RCV001716362] Chr1:169468356..169468358 [GRCh38]
Chr1:169437594..169437596 [GRCh37]
Chr1:1q24.2
benign
NM_006996.3(SLC19A2):c.205-14del deletion not provided [RCV001717049] Chr1:169477771 [GRCh38]
Chr1:169447009 [GRCh37]
Chr1:1q24.2
benign
NM_006996.3(SLC19A2):c.*51C>G single nucleotide variant Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV001096850] Chr1:169465798 [GRCh38]
Chr1:169435036 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.287G>A (p.Arg96His) single nucleotide variant Inborn genetic diseases [RCV002556028]|Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV001100388] Chr1:169477675 [GRCh38]
Chr1:169446913 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.180G>T (p.Pro60=) single nucleotide variant Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV001102361] Chr1:169485587 [GRCh38]
Chr1:169454825 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.*658T>C single nucleotide variant Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV001102254] Chr1:169465191 [GRCh38]
Chr1:169434429 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.*31A>G single nucleotide variant Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV001096851] Chr1:169465818 [GRCh38]
Chr1:169435056 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.1327G>A (p.Val443Ile) single nucleotide variant Inborn genetic diseases [RCV003259090]|Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV001096852] Chr1:169468149 [GRCh38]
Chr1:169437387 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.1008G>A (p.Val336=) single nucleotide variant Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV001098610]|not provided [RCV003769055] Chr1:169469986 [GRCh38]
Chr1:169439224 [GRCh37]
Chr1:1q24.2
likely benign|uncertain significance
NM_006996.3(SLC19A2):c.*1246T>G single nucleotide variant Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV001100267] Chr1:169464603 [GRCh38]
Chr1:169433841 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.*174C>G single nucleotide variant Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV001102256] Chr1:169465675 [GRCh38]
Chr1:169434913 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.*1349T>C single nucleotide variant Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV001100266] Chr1:169464500 [GRCh38]
Chr1:169433738 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.*1543C>G single nucleotide variant Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV001098507] Chr1:169464306 [GRCh38]
Chr1:169433544 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.1149G>C (p.Val383=) single nucleotide variant Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV001098608] Chr1:169468718 [GRCh38]
Chr1:169437956 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.793C>T (p.Pro265Ser) single nucleotide variant Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV001100386]|not provided [RCV002558011] Chr1:169477169 [GRCh38]
Chr1:169446407 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.518C>G (p.Ser173Cys) single nucleotide variant Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV001100387] Chr1:169477444 [GRCh38]
Chr1:169446682 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.*440T>C single nucleotide variant Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV001102255] Chr1:169465409 [GRCh38]
Chr1:169434647 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.42G>T (p.Ala14=) single nucleotide variant Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV001102362]|not provided [RCV003769074] Chr1:169485725 [GRCh38]
Chr1:169454963 [GRCh37]
Chr1:1q24.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44
uncertain significance
NM_006996.3(SLC19A2):c.124T>G (p.Phe42Val) single nucleotide variant Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV001337041] Chr1:169485643 [GRCh38]
Chr1:169454881 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.30GGC[7] (p.Ala16dup) microsatellite SLC19A2-related disorder [RCV003946010]|not provided [RCV001350129] Chr1:169485719..169485720 [GRCh38]
Chr1:169454957..169454958 [GRCh37]
Chr1:1q24.2
likely benign|uncertain significance
NM_006996.3(SLC19A2):c.697C>T (p.Gln233Ter) single nucleotide variant Ear malformation [RCV001814323]|Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV001534618] Chr1:169477265 [GRCh38]
Chr1:169446503 [GRCh37]
Chr1:1q24.2
pathogenic
NM_006996.3(SLC19A2):c.1014C>T (p.Ala338=) single nucleotide variant not provided [RCV001590682] Chr1:169469980 [GRCh38]
Chr1:169439218 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.808-235T>G single nucleotide variant not provided [RCV001588772] Chr1:169470421 [GRCh38]
Chr1:169439659 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.1256G>A (p.Arg419His) single nucleotide variant not provided [RCV003108935] Chr1:169468220 [GRCh38]
Chr1:169437458 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.316C>A (p.Leu106Ile) single nucleotide variant not provided [RCV001786981] Chr1:169477646 [GRCh38]
Chr1:169446884 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.872C>A (p.Ser291Tyr) single nucleotide variant not provided [RCV001929472] Chr1:169470122 [GRCh38]
Chr1:169439360 [GRCh37]
Chr1:1q24.2
uncertain significance
GRCh37/hg19 1q24.2-24.3(chr1:167391422-171843613) copy number loss not specified [RCV002053691] Chr1:167391422..171843613 [GRCh37]
Chr1:1q24.2-24.3
pathogenic
GRCh37/hg19 1q23.3-24.3(chr1:162330810-171532331) copy number loss not specified [RCV002053680] Chr1:162330810..171532331 [GRCh37]
Chr1:1q23.3-24.3
pathogenic
NM_006996.3(SLC19A2):c.52G>A (p.Val18Met) single nucleotide variant not provided [RCV002024446] Chr1:169485715 [GRCh38]
Chr1:169454953 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.104C>T (p.Ala35Val) single nucleotide variant Inborn genetic diseases [RCV002551235]|Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV002507840]|not provided [RCV002052311] Chr1:169485663 [GRCh38]
Chr1:169454901 [GRCh37]
Chr1:1q24.2
conflicting interpretations of pathogenicity|uncertain significance
NM_006996.3(SLC19A2):c.170T>C (p.Leu57Pro) single nucleotide variant not provided [RCV002034002] Chr1:169485597 [GRCh38]
Chr1:169454835 [GRCh37]
Chr1:1q24.2
likely pathogenic
NM_006996.3(SLC19A2):c.620_624dup (p.Pro209fs) duplication not provided [RCV001941684] Chr1:169477337..169477338 [GRCh38]
Chr1:169446575..169446576 [GRCh37]
Chr1:1q24.2
pathogenic
NM_006996.3(SLC19A2):c.77G>A (p.Arg26His) single nucleotide variant not provided [RCV001883544] Chr1:169485690 [GRCh38]
Chr1:169454928 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.1139T>C (p.Met380Thr) single nucleotide variant not provided [RCV001922486] Chr1:169468728 [GRCh38]
Chr1:169437966 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.1307C>T (p.Thr436Met) single nucleotide variant not provided [RCV001916718] Chr1:169468169 [GRCh38]
Chr1:169437407 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.1432G>A (p.Val478Ile) single nucleotide variant not provided [RCV002030347] Chr1:169465911 [GRCh38]
Chr1:169435149 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.920G>C (p.Cys307Ser) single nucleotide variant not provided [RCV001923379] Chr1:169470074 [GRCh38]
Chr1:169439312 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.500T>C (p.Val167Ala) single nucleotide variant not provided [RCV001939202] Chr1:169477462 [GRCh38]
Chr1:169446700 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.1063A>C (p.Lys355Gln) single nucleotide variant not provided [RCV002049733] Chr1:169468804 [GRCh38]
Chr1:169438042 [GRCh37]
Chr1:1q24.2
likely pathogenic|conflicting interpretations of pathogenicity
NM_006996.3(SLC19A2):c.1213A>G (p.Thr405Ala) single nucleotide variant not provided [RCV001998936] Chr1:169468654 [GRCh38]
Chr1:169437892 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.1171G>A (p.Ala391Thr) single nucleotide variant not provided [RCV001972226] Chr1:169468696 [GRCh38]
Chr1:169437934 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.771C>T (p.Ile257=) single nucleotide variant not provided [RCV002187309] Chr1:169477191 [GRCh38]
Chr1:169446429 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.1398C>T (p.Ile466=) single nucleotide variant not provided [RCV002091304] Chr1:169465945 [GRCh38]
Chr1:169435183 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.432T>C (p.Tyr144=) single nucleotide variant not provided [RCV002102747] Chr1:169477530 [GRCh38]
Chr1:169446768 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.835T>C (p.Leu279=) single nucleotide variant not provided [RCV002155986] Chr1:169470159 [GRCh38]
Chr1:169439397 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.1293C>T (p.Ala431=) single nucleotide variant not provided [RCV002136448] Chr1:169468183 [GRCh38]
Chr1:169437421 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.808-20T>C single nucleotide variant not provided [RCV002123995] Chr1:169470206 [GRCh38]
Chr1:169439444 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.204+13G>A single nucleotide variant not provided [RCV002123374] Chr1:169485550 [GRCh38]
Chr1:169454788 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.1113C>G (p.Leu371=) single nucleotide variant not provided [RCV002100387] Chr1:169468754 [GRCh38]
Chr1:169437992 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.201G>A (p.Arg67=) single nucleotide variant not provided [RCV002102918] Chr1:169485566 [GRCh38]
Chr1:169454804 [GRCh37]
Chr1:1q24.2
likely benign
NC_000001.10:g.(?_169435087)_(169455004_?)del deletion not provided [RCV003109602] Chr1:169435087..169455004 [GRCh37]
Chr1:1q24.2
pathogenic
NC_000001.10:g.(?_169454781)_(169455004_?)del deletion not provided [RCV003109603] Chr1:169454781..169455004 [GRCh37]
Chr1:1q24.2
pathogenic
NM_006996.3(SLC19A2):c.979C>T (p.Arg327Cys) single nucleotide variant not provided [RCV003115304] Chr1:169470015 [GRCh38]
Chr1:169439253 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.1061T>C (p.Ile354Thr) single nucleotide variant not provided [RCV002275822] Chr1:169468806 [GRCh38]
Chr1:169438044 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.1160G>A (p.Trp387Ter) single nucleotide variant not provided [RCV003236143] Chr1:169468707 [GRCh38]
Chr1:169437945 [GRCh37]
Chr1:1q24.2
pathogenic
NM_006996.3(SLC19A2):c.1033G>T (p.Ala345Ser) single nucleotide variant not provided [RCV002464826] Chr1:169468834 [GRCh38]
Chr1:169438072 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.31G>T (p.Ala11Ser) single nucleotide variant not provided [RCV002303046] Chr1:169485736 [GRCh38]
Chr1:169454974 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.138C>T (p.Leu46=) single nucleotide variant not provided [RCV002881567] Chr1:169485629 [GRCh38]
Chr1:169454867 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.30GGC[5] (p.Ala16del) microsatellite Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV003615920]|not provided [RCV002614525] Chr1:169485720..169485722 [GRCh38]
Chr1:169454958..169454960 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.262G>A (p.Val88Met) single nucleotide variant Inborn genetic diseases [RCV002750990]|not provided [RCV002750991] Chr1:169477700 [GRCh38]
Chr1:169446938 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.1061_1063del (p.Ile354del) deletion Inborn genetic diseases [RCV002972820] Chr1:169468804..169468806 [GRCh38]
Chr1:169438042..169438044 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.1031-17T>G single nucleotide variant not provided [RCV002755217] Chr1:169468853 [GRCh38]
Chr1:169438091 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.631C>T (p.Pro211Ser) single nucleotide variant not provided [RCV002591678] Chr1:169477331 [GRCh38]
Chr1:169446569 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.1255C>T (p.Arg419Cys) single nucleotide variant Inborn genetic diseases [RCV002762568] Chr1:169468221 [GRCh38]
Chr1:169437459 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.1134T>C (p.Tyr378=) single nucleotide variant not provided [RCV002781247] Chr1:169468733 [GRCh38]
Chr1:169437971 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.648C>T (p.Phe216=) single nucleotide variant not provided [RCV002621748] Chr1:169477314 [GRCh38]
Chr1:169446552 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.1087G>A (p.Glu363Lys) single nucleotide variant not provided [RCV002846252] Chr1:169468780 [GRCh38]
Chr1:169438018 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.775C>G (p.Leu259Val) single nucleotide variant Inborn genetic diseases [RCV002924444] Chr1:169477187 [GRCh38]
Chr1:169446425 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.156C>T (p.Phe52=) single nucleotide variant not provided [RCV002620420] Chr1:169485611 [GRCh38]
Chr1:169454849 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.5A>G (p.Asp2Gly) single nucleotide variant not provided [RCV002923231] Chr1:169485762 [GRCh38]
Chr1:169455000 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.193A>T (p.Thr65Ser) single nucleotide variant Inborn genetic diseases [RCV002712688] Chr1:169485574 [GRCh38]
Chr1:169454812 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.806C>T (p.Pro269Leu) single nucleotide variant not provided [RCV002667031] Chr1:169477156 [GRCh38]
Chr1:169446394 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.52G>C (p.Val18Leu) single nucleotide variant not provided [RCV003084834] Chr1:169485715 [GRCh38]
Chr1:169454953 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.191T>C (p.Leu64Pro) single nucleotide variant not provided [RCV003084851] Chr1:169485576 [GRCh38]
Chr1:169454814 [GRCh37]
Chr1:1q24.2
likely pathogenic
NM_006996.3(SLC19A2):c.1166G>T (p.Cys389Phe) single nucleotide variant not provided [RCV003059482] Chr1:169468701 [GRCh38]
Chr1:169437939 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.457A>C (p.Met153Leu) single nucleotide variant not provided [RCV002957674] Chr1:169477505 [GRCh38]
Chr1:169446743 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.1223+14C>G single nucleotide variant not provided [RCV002828155] Chr1:169468630 [GRCh38]
Chr1:169437868 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.54G>T (p.Val18=) single nucleotide variant not provided [RCV002852611] Chr1:169485713 [GRCh38]
Chr1:169454951 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.11C>G (p.Pro4Arg) single nucleotide variant not provided [RCV002890517] Chr1:169485756 [GRCh38]
Chr1:169454994 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.540C>T (p.Val180=) single nucleotide variant not provided [RCV002643856] Chr1:169477422 [GRCh38]
Chr1:169446660 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.1125T>G (p.Ala375=) single nucleotide variant not provided [RCV002595862] Chr1:169468742 [GRCh38]
Chr1:169437980 [GRCh37]
Chr1:1q24.2
likely benign|uncertain significance
NM_006996.3(SLC19A2):c.749G>A (p.Trp250Ter) single nucleotide variant not provided [RCV002875867] Chr1:169477213 [GRCh38]
Chr1:169446451 [GRCh37]
Chr1:1q24.2
pathogenic
NM_006996.3(SLC19A2):c.30GGC[4] (p.Ala15_Ala16del) microsatellite not provided [RCV002982801] Chr1:169485720..169485725 [GRCh38]
Chr1:169454958..169454963 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.286C>T (p.Arg96Cys) single nucleotide variant not provided [RCV003084396] Chr1:169477676 [GRCh38]
Chr1:169446914 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.1311G>A (p.Leu437=) single nucleotide variant not provided [RCV003044850] Chr1:169468165 [GRCh38]
Chr1:169437403 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.1351_1360del (p.Glu451fs) deletion not provided [RCV003029927] Chr1:169468116..169468125 [GRCh38]
Chr1:169437354..169437363 [GRCh37]
Chr1:1q24.2
pathogenic
NM_006996.3(SLC19A2):c.824G>A (p.Arg275His) single nucleotide variant Inborn genetic diseases [RCV003008661] Chr1:169470170 [GRCh38]
Chr1:169439408 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.823C>T (p.Arg275Cys) single nucleotide variant Inborn genetic diseases [RCV002938623]|not provided [RCV002938624] Chr1:169470171 [GRCh38]
Chr1:169439409 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.602C>T (p.Ala201Val) single nucleotide variant not provided [RCV002648218] Chr1:169477360 [GRCh38]
Chr1:169446598 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.655C>T (p.His219Tyr) single nucleotide variant not provided [RCV002577466] Chr1:169477307 [GRCh38]
Chr1:169446545 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.579C>T (p.Ile193=) single nucleotide variant not provided [RCV002671506] Chr1:169477383 [GRCh38]
Chr1:169446621 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.77G>T (p.Arg26Leu) single nucleotide variant Inborn genetic diseases [RCV004070558]|not provided [RCV002628241] Chr1:169485690 [GRCh38]
Chr1:169454928 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.461A>T (p.Tyr154Phe) single nucleotide variant Inborn genetic diseases [RCV002921106] Chr1:169477501 [GRCh38]
Chr1:169446739 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.400G>A (p.Ala134Thr) single nucleotide variant not provided [RCV002649705] Chr1:169477562 [GRCh38]
Chr1:169446800 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.196G>T (p.Glu66Ter) single nucleotide variant not provided [RCV002648219] Chr1:169485571 [GRCh38]
Chr1:169454809 [GRCh37]
Chr1:1q24.2
pathogenic
NM_006996.3(SLC19A2):c.566G>C (p.Ser189Thr) single nucleotide variant Inborn genetic diseases [RCV002897311] Chr1:169477396 [GRCh38]
Chr1:169446634 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.4G>C (p.Asp2His) single nucleotide variant Inborn genetic diseases [RCV002747408] Chr1:169485763 [GRCh38]
Chr1:169455001 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.1399G>A (p.Ala467Thr) single nucleotide variant Inborn genetic diseases [RCV003065096]|not provided [RCV003071500] Chr1:169465944 [GRCh38]
Chr1:169435182 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.750G>C (p.Trp250Cys) single nucleotide variant not provided [RCV003069107] Chr1:169477212 [GRCh38]
Chr1:169446450 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.583C>T (p.Leu195Phe) single nucleotide variant not provided [RCV002635070] Chr1:169477379 [GRCh38]
Chr1:169446617 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.200G>A (p.Arg67Lys) single nucleotide variant not provided [RCV002603070] Chr1:169485567 [GRCh38]
Chr1:169454805 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.861G>T (p.Leu287=) single nucleotide variant not provided [RCV002725360] Chr1:169470133 [GRCh38]
Chr1:169439371 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.54G>C (p.Val18=) single nucleotide variant not provided [RCV002603295] Chr1:169485713 [GRCh38]
Chr1:169454951 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.1223+1G>A single nucleotide variant Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV004596567]|not provided [RCV002634320] Chr1:169468643 [GRCh38]
Chr1:169437881 [GRCh37]
Chr1:1q24.2
pathogenic
NM_006996.3(SLC19A2):c.1308G>T (p.Thr436=) single nucleotide variant not provided [RCV002610728] Chr1:169468168 [GRCh38]
Chr1:169437406 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.1178A>G (p.Tyr393Cys) single nucleotide variant not provided [RCV002587701] Chr1:169468689 [GRCh38]
Chr1:169437927 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.1093A>G (p.Thr365Ala) single nucleotide variant Inborn genetic diseases [RCV003195350] Chr1:169468774 [GRCh38]
Chr1:169438012 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.1006G>T (p.Val336Leu) single nucleotide variant Inborn genetic diseases [RCV003190783] Chr1:169469988 [GRCh38]
Chr1:169439226 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.479A>G (p.Tyr160Cys) single nucleotide variant not provided [RCV003218996] Chr1:169477483 [GRCh38]
Chr1:169446721 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.590G>C (p.Cys197Ser) single nucleotide variant not provided [RCV003229174] Chr1:169477372 [GRCh38]
Chr1:169446610 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.947C>T (p.Thr316Ile) single nucleotide variant not provided [RCV003323253] Chr1:169470047 [GRCh38]
Chr1:169439285 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.314G>A (p.Gly105Glu) single nucleotide variant Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV003338197]|not provided [RCV003561314] Chr1:169477648 [GRCh38]
Chr1:169446886 [GRCh37]
Chr1:1q24.2
pathogenic|likely pathogenic
NM_006996.3(SLC19A2):c.42G>A (p.Ala14=) single nucleotide variant not provided [RCV003332692] Chr1:169485725 [GRCh38]
Chr1:169454963 [GRCh37]
Chr1:1q24.2
conflicting interpretations of pathogenicity|uncertain significance
NM_006996.3(SLC19A2):c.6T>G (p.Asp2Glu) single nucleotide variant Inborn genetic diseases [RCV003367445] Chr1:169485761 [GRCh38]
Chr1:169454999 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.1453C>T (p.Leu485=) single nucleotide variant not provided [RCV003873411] Chr1:169465890 [GRCh38]
Chr1:169435128 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.1365+20A>G single nucleotide variant not provided [RCV003569455] Chr1:169468091 [GRCh38]
Chr1:169437329 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.1365+7T>C single nucleotide variant not provided [RCV003690907] Chr1:169468104 [GRCh38]
Chr1:169437342 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.366G>A (p.Leu122=) single nucleotide variant not provided [RCV003686439] Chr1:169477596 [GRCh38]
Chr1:169446834 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.558G>A (p.Ser186=) single nucleotide variant not provided [RCV003875772] Chr1:169477404 [GRCh38]
Chr1:169446642 [GRCh37]
Chr1:1q24.2
likely benign
GRCh37/hg19 1q23.3-25.1(chr1:164571371-175708060)x1 copy number loss not provided [RCV003483966] Chr1:164571371..175708060 [GRCh37]
Chr1:1q23.3-25.1
pathogenic
NM_006996.3(SLC19A2):c.1224-7_1224-4del deletion not provided [RCV003569828] Chr1:169468256..169468259 [GRCh38]
Chr1:169437494..169437497 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.1223+20G>C single nucleotide variant not provided [RCV003690776] Chr1:169468624 [GRCh38]
Chr1:169437862 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.1312C>T (p.Leu438Phe) single nucleotide variant Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV003486250] Chr1:169468164 [GRCh38]
Chr1:169437402 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.234T>C (p.Thr78=) single nucleotide variant not provided [RCV003579372] Chr1:169477728 [GRCh38]
Chr1:169446966 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.291T>C (p.Tyr97=) single nucleotide variant not provided [RCV003830949] Chr1:169477671 [GRCh38]
Chr1:169446909 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.609T>C (p.Ala203=) single nucleotide variant not provided [RCV003740351] Chr1:169477353 [GRCh38]
Chr1:169446591 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.147C>A (p.Ser49=) single nucleotide variant not provided [RCV003696632] Chr1:169485620 [GRCh38]
Chr1:169454858 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.255G>A (p.Leu85=) single nucleotide variant not provided [RCV003694797] Chr1:169477707 [GRCh38]
Chr1:169446945 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.75C>G (p.Val25=) single nucleotide variant not provided [RCV003830181] Chr1:169485692 [GRCh38]
Chr1:169454930 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.954C>A (p.Gly318=) single nucleotide variant not provided [RCV003695913] Chr1:169470040 [GRCh38]
Chr1:169439278 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.205-9_205-6del deletion not provided [RCV003662379] Chr1:169477763..169477766 [GRCh38]
Chr1:169447001..169447004 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.1031-10_1031-7del microsatellite not provided [RCV003692862] Chr1:169468843..169468846 [GRCh38]
Chr1:169438081..169438084 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.543A>T (p.Ser181=) single nucleotide variant not provided [RCV003827936] Chr1:169477419 [GRCh38]
Chr1:169446657 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.1223+17A>G single nucleotide variant not provided [RCV003880982] Chr1:169468627 [GRCh38]
Chr1:169437865 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.1476T>C (p.Ser492=) single nucleotide variant not provided [RCV003694225] Chr1:169465867 [GRCh38]
Chr1:169435105 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.678_679del (p.Arg226fs) microsatellite not provided [RCV003716238] Chr1:169477283..169477284 [GRCh38]
Chr1:169446521..169446522 [GRCh37]
Chr1:1q24.2
pathogenic
NM_006996.3(SLC19A2):c.1224-13del deletion not provided [RCV003666219] Chr1:169468265 [GRCh38]
Chr1:169437503 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.36G>C (p.Ala12=) single nucleotide variant not provided [RCV003572933] Chr1:169485731 [GRCh38]
Chr1:169454969 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.1366-9C>G single nucleotide variant not provided [RCV003572396] Chr1:169465986 [GRCh38]
Chr1:169435224 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.1041T>C (p.Ala347=) single nucleotide variant not provided [RCV003577191] Chr1:169468826 [GRCh38]
Chr1:169438064 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.205-15T>C single nucleotide variant not provided [RCV003713280] Chr1:169477772 [GRCh38]
Chr1:169447010 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.1294C>T (p.Leu432=) single nucleotide variant not provided [RCV003572527] Chr1:169468182 [GRCh38]
Chr1:169437420 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.204+11C>T single nucleotide variant not provided [RCV003829527] Chr1:169485552 [GRCh38]
Chr1:169454790 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.597del (p.Val200fs) deletion not provided [RCV003687798] Chr1:169477365 [GRCh38]
Chr1:169446603 [GRCh37]
Chr1:1q24.2
pathogenic
NM_006996.3(SLC19A2):c.902G>A (p.Trp301Ter) single nucleotide variant not provided [RCV003692236] Chr1:169470092 [GRCh38]
Chr1:169439330 [GRCh37]
Chr1:1q24.2
pathogenic
NM_006996.3(SLC19A2):c.1428C>T (p.Val476=) single nucleotide variant not provided [RCV003548014] Chr1:169465915 [GRCh38]
Chr1:169435153 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.1131G>A (p.Val377=) single nucleotide variant not provided [RCV003663406] Chr1:169468736 [GRCh38]
Chr1:169437974 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.1455G>A (p.Leu485=) single nucleotide variant not provided [RCV003714698] Chr1:169465888 [GRCh38]
Chr1:169435126 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.807+18T>A single nucleotide variant not provided [RCV003688499] Chr1:169477137 [GRCh38]
Chr1:169446375 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.1366-8C>T single nucleotide variant not provided [RCV003687932] Chr1:169465985 [GRCh38]
Chr1:169435223 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.205-19T>G single nucleotide variant not provided [RCV003830667] Chr1:169477776 [GRCh38]
Chr1:169447014 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.808-2A>G single nucleotide variant not provided [RCV003578699] Chr1:169470188 [GRCh38]
Chr1:169439426 [GRCh37]
Chr1:1q24.2
likely pathogenic
NM_006996.3(SLC19A2):c.1446T>C (p.Cys482=) single nucleotide variant not provided [RCV003739228] Chr1:169465897 [GRCh38]
Chr1:169435135 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.915T>C (p.Ser305=) single nucleotide variant not provided [RCV003831073] Chr1:169470079 [GRCh38]
Chr1:169439317 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.1467A>G (p.Gln489=) single nucleotide variant not provided [RCV003830104] Chr1:169465876 [GRCh38]
Chr1:169435114 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.852T>C (p.Asn284=) single nucleotide variant not provided [RCV003547112] Chr1:169470142 [GRCh38]
Chr1:169439380 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.1031-20T>G single nucleotide variant not provided [RCV003661577] Chr1:169468856 [GRCh38]
Chr1:169438094 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.272C>A (p.Ala91Asp) single nucleotide variant not provided [RCV003827598] Chr1:169477690 [GRCh38]
Chr1:169446928 [GRCh37]
Chr1:1q24.2
likely pathogenic
NM_006996.3(SLC19A2):c.36G>A (p.Ala12=) single nucleotide variant not provided [RCV003691834] Chr1:169485731 [GRCh38]
Chr1:169454969 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.96G>A (p.Leu32=) single nucleotide variant not provided [RCV003572976] Chr1:169485671 [GRCh38]
Chr1:169454909 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.921T>C (p.Cys307=) single nucleotide variant not provided [RCV003715130] Chr1:169470073 [GRCh38]
Chr1:169439311 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.258T>C (p.Phe86=) single nucleotide variant not provided [RCV003824931] Chr1:169477704 [GRCh38]
Chr1:169446942 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.807+17A>C single nucleotide variant not provided [RCV003693496] Chr1:169477138 [GRCh38]
Chr1:169446376 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.999del (p.Asn333fs) deletion not provided [RCV003691884] Chr1:169469995 [GRCh38]
Chr1:169439233 [GRCh37]
Chr1:1q24.2
pathogenic
NM_006996.3(SLC19A2):c.1171dup (p.Ala391fs) duplication not provided [RCV003543905] Chr1:169468695..169468696 [GRCh38]
Chr1:169437933..169437934 [GRCh37]
Chr1:1q24.2
pathogenic
NM_006996.3(SLC19A2):c.159G>T (p.Leu53=) single nucleotide variant not provided [RCV003690177] Chr1:169485608 [GRCh38]
Chr1:169454846 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.130G>A (p.Ala44Thr) single nucleotide variant not provided [RCV003692164] Chr1:169485637 [GRCh38]
Chr1:169454875 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.148G>T (p.Glu50Ter) single nucleotide variant not provided [RCV003688748] Chr1:169485619 [GRCh38]
Chr1:169454857 [GRCh37]
Chr1:1q24.2
pathogenic
NM_006996.3(SLC19A2):c.1299A>T (p.Ala433=) single nucleotide variant not provided [RCV003827826] Chr1:169468177 [GRCh38]
Chr1:169437415 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.165G>A (p.Pro55=) single nucleotide variant not provided [RCV003712912] Chr1:169485602 [GRCh38]
Chr1:169454840 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.669C>T (p.Thr223=) single nucleotide variant not provided [RCV003573509] Chr1:169477293 [GRCh38]
Chr1:169446531 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.39G>A (p.Ala13=) single nucleotide variant not provided [RCV003665858] Chr1:169485728 [GRCh38]
Chr1:169454966 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.81C>T (p.Arg27=) single nucleotide variant not provided [RCV003717323] Chr1:169485686 [GRCh38]
Chr1:169454924 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.1031-5T>C single nucleotide variant not provided [RCV003698205] Chr1:169468841 [GRCh38]
Chr1:169438079 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.48C>T (p.Ala16=) single nucleotide variant not provided [RCV003580997] Chr1:169485719 [GRCh38]
Chr1:169454957 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.205-26_205-20del microsatellite not provided [RCV003834360] Chr1:169477777..169477783 [GRCh38]
Chr1:169447015..169447021 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.831T>G (p.Leu277=) single nucleotide variant not provided [RCV003697244] Chr1:169470163 [GRCh38]
Chr1:169439401 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.205-9T>A single nucleotide variant not provided [RCV003840265] Chr1:169477766 [GRCh38]
Chr1:169447004 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.1224-18C>T single nucleotide variant not provided [RCV003814352] Chr1:169468270 [GRCh38]
Chr1:169437508 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.120C>T (p.Tyr40=) single nucleotide variant not provided [RCV003726676] Chr1:169485647 [GRCh38]
Chr1:169454885 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.205-20_205-14del deletion not provided [RCV003663962] Chr1:169477771..169477777 [GRCh38]
Chr1:169447009..169447015 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.358G>T (p.Gly120Ter) single nucleotide variant not provided [RCV003665448] Chr1:169477604 [GRCh38]
Chr1:169446842 [GRCh37]
Chr1:1q24.2
pathogenic
NM_006996.3(SLC19A2):c.1224-18_1224-17del microsatellite not provided [RCV003664011] Chr1:169468269..169468270 [GRCh38]
Chr1:169437507..169437508 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.150G>A (p.Glu50=) single nucleotide variant not provided [RCV003674296] Chr1:169485617 [GRCh38]
Chr1:169454855 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.204+20G>A single nucleotide variant not provided [RCV003723967] Chr1:169485543 [GRCh38]
Chr1:169454781 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.138C>G (p.Leu46=) single nucleotide variant not provided [RCV003580394] Chr1:169485629 [GRCh38]
Chr1:169454867 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.897T>C (p.Ser299=) single nucleotide variant not provided [RCV003560617] Chr1:169470097 [GRCh38]
Chr1:169439335 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.204+16G>A single nucleotide variant not provided [RCV003816330] Chr1:169485547 [GRCh38]
Chr1:169454785 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.1366-6T>G single nucleotide variant not provided [RCV003548009] Chr1:169465983 [GRCh38]
Chr1:169435221 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.834A>G (p.Val278=) single nucleotide variant not provided [RCV003814138] Chr1:169470160 [GRCh38]
Chr1:169439398 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.963G>A (p.Glu321=) single nucleotide variant not provided [RCV003672873] Chr1:169470031 [GRCh38]
Chr1:169439269 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.1155C>T (p.Asn385=) single nucleotide variant not provided [RCV003702585] Chr1:169468712 [GRCh38]
Chr1:169437950 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.391del (p.Tyr131fs) deletion not provided [RCV003701770] Chr1:169477571 [GRCh38]
Chr1:169446809 [GRCh37]
Chr1:1q24.2
pathogenic
NM_006996.3(SLC19A2):c.162C>T (p.Thr54=) single nucleotide variant not provided [RCV003549355] Chr1:169485605 [GRCh38]
Chr1:169454843 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.81C>G (p.Arg27=) single nucleotide variant not provided [RCV003816878] Chr1:169485686 [GRCh38]
Chr1:169454924 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.106C>T (p.Leu36=) single nucleotide variant not provided [RCV003838601] Chr1:169485661 [GRCh38]
Chr1:169454899 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.726A>G (p.Pro242=) single nucleotide variant not provided [RCV003665276] Chr1:169477236 [GRCh38]
Chr1:169446474 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.808-10T>G single nucleotide variant not provided [RCV003839744] Chr1:169470196 [GRCh38]
Chr1:169439434 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.447G>T (p.Val149=) single nucleotide variant not provided [RCV003667092] Chr1:169477515 [GRCh38]
Chr1:169446753 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.903G>A (p.Trp301Ter) single nucleotide variant not provided [RCV003668167] Chr1:169470091 [GRCh38]
Chr1:169439329 [GRCh37]
Chr1:1q24.2
pathogenic
NM_006996.3(SLC19A2):c.556_557insTTGGT (p.Ser186fs) insertion not provided [RCV003701652] Chr1:169477405..169477406 [GRCh38]
Chr1:169446643..169446644 [GRCh37]
Chr1:1q24.2
pathogenic
NM_006996.3(SLC19A2):c.1005C>T (p.Gly335=) single nucleotide variant not provided [RCV003725182] Chr1:169469989 [GRCh38]
Chr1:169439227 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.205-13dup duplication not provided [RCV003814097] Chr1:169477769..169477770 [GRCh38]
Chr1:169447007..169447008 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.205-18T>G single nucleotide variant not provided [RCV003667734] Chr1:169477775 [GRCh38]
Chr1:169447013 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.144G>C (p.Pro48=) single nucleotide variant not provided [RCV003580221] Chr1:169485623 [GRCh38]
Chr1:169454861 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.438C>T (p.Tyr146=) single nucleotide variant not provided [RCV003723899] Chr1:169477524 [GRCh38]
Chr1:169446762 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.1464A>G (p.Pro488=) single nucleotide variant not provided [RCV003835832] Chr1:169465879 [GRCh38]
Chr1:169435117 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.1366-4del deletion not provided [RCV003717365] Chr1:169465981 [GRCh38]
Chr1:169435219 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.1476T>G (p.Ser492=) single nucleotide variant not provided [RCV003700239] Chr1:169465867 [GRCh38]
Chr1:169435105 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.528G>T (p.Gly176=) single nucleotide variant not provided [RCV003815881] Chr1:169477434 [GRCh38]
Chr1:169446672 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.1407T>C (p.Val469=) single nucleotide variant not provided [RCV003668622] Chr1:169465936 [GRCh38]
Chr1:169435174 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.1209C>T (p.Leu403=) single nucleotide variant not provided [RCV003814830] Chr1:169468658 [GRCh38]
Chr1:169437896 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.205-20T>G single nucleotide variant not provided [RCV003814558] Chr1:169477777 [GRCh38]
Chr1:169447015 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.753G>A (p.Glu251=) single nucleotide variant not provided [RCV003849949] Chr1:169477209 [GRCh38]
Chr1:169446447 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.102C>T (p.Thr34=) single nucleotide variant not provided [RCV003697250] Chr1:169485665 [GRCh38]
Chr1:169454903 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.90_91inv (p.Trp30_Phe31delinsTer) inversion not provided [RCV003667543] Chr1:169485676..169485677 [GRCh38]
Chr1:169454914..169454915 [GRCh37]
Chr1:1q24.2
pathogenic
NM_006996.3(SLC19A2):c.369C>A (p.Ala123=) single nucleotide variant not provided [RCV003854671] Chr1:169477593 [GRCh38]
Chr1:169446831 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.205-18T>C single nucleotide variant not provided [RCV003663760] Chr1:169477775 [GRCh38]
Chr1:169447013 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.195C>G (p.Thr65=) single nucleotide variant not provided [RCV003665989] Chr1:169485572 [GRCh38]
Chr1:169454810 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.473C>G (p.Thr158Arg) single nucleotide variant not provided [RCV003562306] Chr1:169477489 [GRCh38]
Chr1:169446727 [GRCh37]
Chr1:1q24.2
likely pathogenic
NM_006996.3(SLC19A2):c.239C>G (p.Ser80Cys) single nucleotide variant not provided [RCV003566291] Chr1:169477723 [GRCh38]
Chr1:169446961 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.987T>C (p.Ala329=) single nucleotide variant not provided [RCV003676601] Chr1:169470007 [GRCh38]
Chr1:169439245 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.1275T>C (p.Gly425=) single nucleotide variant not provided [RCV003707229] Chr1:169468201 [GRCh38]
Chr1:169437439 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.975T>G (p.Pro325=) single nucleotide variant not provided [RCV003681039] Chr1:169470019 [GRCh38]
Chr1:169439257 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.567C>T (p.Ser189=) single nucleotide variant not provided [RCV003862789] Chr1:169477395 [GRCh38]
Chr1:169446633 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.204+4CG[4] microsatellite not provided [RCV003542096] Chr1:169485553..169485554 [GRCh38]
Chr1:169454791..169454792 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.807+13T>G single nucleotide variant not provided [RCV003679244] Chr1:169477142 [GRCh38]
Chr1:169446380 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.309G>T (p.Leu103=) single nucleotide variant not provided [RCV003859307] Chr1:169477653 [GRCh38]
Chr1:169446891 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.1410C>T (p.Phe470=) single nucleotide variant not provided [RCV003568012] Chr1:169465933 [GRCh38]
Chr1:169435171 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.497T>A (p.Leu166Ter) single nucleotide variant not provided [RCV003552680] Chr1:169477465 [GRCh38]
Chr1:169446703 [GRCh37]
Chr1:1q24.2
pathogenic
NM_006996.3(SLC19A2):c.60G>C (p.Leu20=) single nucleotide variant not provided [RCV003566510] Chr1:169485707 [GRCh38]
Chr1:169454945 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.555G>A (p.Trp185Ter) single nucleotide variant not provided [RCV003709160] Chr1:169477407 [GRCh38]
Chr1:169446645 [GRCh37]
Chr1:1q24.2
pathogenic
NM_006996.3(SLC19A2):c.1308G>A (p.Thr436=) single nucleotide variant not provided [RCV003844092] Chr1:169468168 [GRCh38]
Chr1:169437406 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.57C>G (p.Leu19=) single nucleotide variant not provided [RCV003709016] Chr1:169485710 [GRCh38]
Chr1:169454948 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.1366-4C>T single nucleotide variant not provided [RCV003681449] Chr1:169465981 [GRCh38]
Chr1:169435219 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.1200C>T (p.Tyr400=) single nucleotide variant not provided [RCV003864398] Chr1:169468667 [GRCh38]
Chr1:169437905 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.1366-15T>C single nucleotide variant not provided [RCV003709426] Chr1:169465992 [GRCh38]
Chr1:169435230 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.1485C>T (p.Thr495=) single nucleotide variant not provided [RCV003711778] Chr1:169465858 [GRCh38]
Chr1:169435096 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.12C>G (p.Pro4=) single nucleotide variant not provided [RCV003674725] Chr1:169485755 [GRCh38]
Chr1:169454993 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.673C>T (p.Gln225Ter) single nucleotide variant not provided [RCV003563506] Chr1:169477289 [GRCh38]
Chr1:169446527 [GRCh37]
Chr1:1q24.2
pathogenic
NM_006996.3(SLC19A2):c.1359C>T (p.Thr453=) single nucleotide variant not provided [RCV003819280] Chr1:169468117 [GRCh38]
Chr1:169437355 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.510A>C (p.Thr170=) single nucleotide variant not provided [RCV003683857] Chr1:169477452 [GRCh38]
Chr1:169446690 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.288T>C (p.Arg96=) single nucleotide variant not provided [RCV003819354] Chr1:169477674 [GRCh38]
Chr1:169446912 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.1189A>T (p.Arg397Ter) single nucleotide variant not provided [RCV003562303] Chr1:169468678 [GRCh38]
Chr1:169437916 [GRCh37]
Chr1:1q24.2
pathogenic
NM_006996.3(SLC19A2):c.267C>T (p.Phe89=) single nucleotide variant not provided [RCV003566365] Chr1:169477695 [GRCh38]
Chr1:169446933 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.1365+18G>T single nucleotide variant not provided [RCV003563463] Chr1:169468093 [GRCh38]
Chr1:169437331 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.243C>T (p.Tyr81=) single nucleotide variant not provided [RCV003871120] Chr1:169477719 [GRCh38]
Chr1:169446957 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.891C>T (p.Cys297=) single nucleotide variant not provided [RCV003736040] Chr1:169470103 [GRCh38]
Chr1:169439341 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.1245C>A (p.Leu415=) single nucleotide variant not provided [RCV003866510] Chr1:169468231 [GRCh38]
Chr1:169437469 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.1030+17A>G single nucleotide variant not provided [RCV003567512] Chr1:169469947 [GRCh38]
Chr1:169439185 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.18G>T (p.Pro6=) single nucleotide variant not provided [RCV003857857] Chr1:169485749 [GRCh38]
Chr1:169454987 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.204+18G>T single nucleotide variant not provided [RCV003567639] Chr1:169485545 [GRCh38]
Chr1:169454783 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.405A>G (p.Thr135=) single nucleotide variant not provided [RCV003844455] Chr1:169477557 [GRCh38]
Chr1:169446795 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.1224-4dup duplication not provided [RCV003553289] Chr1:169468255..169468256 [GRCh38]
Chr1:169437493..169437494 [GRCh37]
Chr1:1q24.2
benign
NM_006996.3(SLC19A2):c.528G>A (p.Gly176=) single nucleotide variant not provided [RCV003682365] Chr1:169477434 [GRCh38]
Chr1:169446672 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.528G>C (p.Gly176=) single nucleotide variant not provided [RCV003557429] Chr1:169477434 [GRCh38]
Chr1:169446672 [GRCh37]
Chr1:1q24.2
likely benign
GRCh37/hg19 1q24.2-31.1(chr1:167994071-187711459)x1 copy number loss not specified [RCV003987250] Chr1:167994071..187711459 [GRCh37]
Chr1:1q24.2-31.1
pathogenic
NM_006996.3(SLC19A2):c.462C>T (p.Tyr154=) single nucleotide variant not provided [RCV003721206] Chr1:169477500 [GRCh38]
Chr1:169446738 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.72G>A (p.Arg24=) single nucleotide variant not provided [RCV003678739] Chr1:169485695 [GRCh38]
Chr1:169454933 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.808-6A>G single nucleotide variant not provided [RCV003721931] Chr1:169470192 [GRCh38]
Chr1:169439430 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.1395C>T (p.Leu465=) single nucleotide variant not provided [RCV003685395] Chr1:169465948 [GRCh38]
Chr1:169435186 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.253C>T (p.Leu85=) single nucleotide variant not provided [RCV003866359] Chr1:169477709 [GRCh38]
Chr1:169446947 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.66C>T (p.Thr22=) single nucleotide variant not provided [RCV003844064] Chr1:169485701 [GRCh38]
Chr1:169454939 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.1491A>G (p.Ser497=) single nucleotide variant not provided [RCV003552720] Chr1:169465852 [GRCh38]
Chr1:169435090 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.924C>T (p.Gly308=) single nucleotide variant not provided [RCV003734084] Chr1:169470070 [GRCh38]
Chr1:169439308 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.72G>C (p.Arg24=) single nucleotide variant not provided [RCV003675236] Chr1:169485695 [GRCh38]
Chr1:169454933 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.696A>G (p.Val232=) single nucleotide variant not provided [RCV003679889] Chr1:169477266 [GRCh38]
Chr1:169446504 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.1365+15T>G single nucleotide variant not provided [RCV003863971] Chr1:169468096 [GRCh38]
Chr1:169437334 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.429_432del (p.Tyr144fs) deletion not provided [RCV003853197] Chr1:169477530..169477533 [GRCh38]
Chr1:169446768..169446771 [GRCh37]
Chr1:1q24.2
pathogenic
NM_006996.3(SLC19A2):c.1370del (p.Phe456_Leu457insTer) deletion not provided [RCV003562302] Chr1:169465973 [GRCh38]
Chr1:169435211 [GRCh37]
Chr1:1q24.2
pathogenic
NM_006996.3(SLC19A2):c.759dup (p.Glu254Ter) duplication not provided [RCV003562304] Chr1:169477202..169477203 [GRCh38]
Chr1:169446440..169446441 [GRCh37]
Chr1:1q24.2
pathogenic
NM_006996.3(SLC19A2):c.825T>C (p.Arg275=) single nucleotide variant not provided [RCV003709166] Chr1:169470169 [GRCh38]
Chr1:169439407 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.1030+8A>G single nucleotide variant not provided [RCV003846381] Chr1:169469956 [GRCh38]
Chr1:169439194 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.1176C>T (p.Ser392=) single nucleotide variant not provided [RCV003860751] Chr1:169468691 [GRCh38]
Chr1:169437929 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.808-6A>C single nucleotide variant not provided [RCV003678122] Chr1:169470192 [GRCh38]
Chr1:169439430 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.111C>G (p.Leu37=) single nucleotide variant not provided [RCV003563539] Chr1:169485656 [GRCh38]
Chr1:169454894 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.240T>C (p.Ser80=) single nucleotide variant not provided [RCV003551455] Chr1:169477722 [GRCh38]
Chr1:169446960 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.1263C>T (p.Ala421=) single nucleotide variant not provided [RCV003848101] Chr1:169468213 [GRCh38]
Chr1:169437451 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.1263C>A (p.Ala421=) single nucleotide variant not provided [RCV003861150] Chr1:169468213 [GRCh38]
Chr1:169437451 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.1223+10_1223+19del deletion not provided [RCV003864633] Chr1:169468625..169468634 [GRCh38]
Chr1:169437863..169437872 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.1223+16C>T single nucleotide variant not provided [RCV003845047] Chr1:169468628 [GRCh38]
Chr1:169437866 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.1224-8T>C single nucleotide variant not provided [RCV003846952] Chr1:169468260 [GRCh38]
Chr1:169437498 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.1214C>G (p.Thr405Arg) single nucleotide variant not provided [RCV003709861] Chr1:169468653 [GRCh38]
Chr1:169437891 [GRCh37]
Chr1:1q24.2
likely pathogenic
NM_006996.3(SLC19A2):c.1033G>A (p.Ala345Thr) single nucleotide variant not specified [RCV003988283] Chr1:169468834 [GRCh38]
Chr1:169438072 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.285C>T (p.Leu95=) single nucleotide variant SLC19A2-related disorder [RCV003983662] Chr1:169477677 [GRCh38]
Chr1:169446915 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.1179T>C (p.Tyr393=) single nucleotide variant SLC19A2-related disorder [RCV003964611] Chr1:169468688 [GRCh38]
Chr1:169437926 [GRCh37]
Chr1:1q24.2
likely benign
NM_006996.3(SLC19A2):c.581C>T (p.Ser194Phe) single nucleotide variant Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV003985004] Chr1:169477381 [GRCh38]
Chr1:169446619 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.1072T>A (p.Trp358Arg) single nucleotide variant Inborn genetic diseases [RCV004448631] Chr1:169468795 [GRCh38]
Chr1:169438033 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.1121C>T (p.Ala374Val) single nucleotide variant Inborn genetic diseases [RCV004448632] Chr1:169468746 [GRCh38]
Chr1:169437984 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.56T>C (p.Leu19Pro) single nucleotide variant not provided [RCV003884225] Chr1:169485711 [GRCh38]
Chr1:169454949 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.216A>C (p.Glu72Asp) single nucleotide variant Inborn genetic diseases [RCV004448633] Chr1:169477746 [GRCh38]
Chr1:169446984 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.566_567delinsTCT (p.Ser189fs) indel Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV004596677] Chr1:169477395..169477396 [GRCh38]
Chr1:169446633..169446634 [GRCh37]
Chr1:1q24.2
pathogenic
NC_000001.10:g.(?_169439182)_(169447015_?)del deletion not provided [RCV004579148] Chr1:169439182..169447015 [GRCh37]
Chr1:1q24.2
pathogenic
NC_000001.10:g.(?_169435087)_(169439444_?)del deletion not provided [RCV004579149] Chr1:169435087..169439444 [GRCh37]
Chr1:1q24.2
pathogenic
NC_000001.10:g.(?_169446833)_(169454047_?)del deletion not provided [RCV004579150] Chr1:169446833..169454047 [GRCh37]
Chr1:1q24.2
pathogenic
NM_006996.3(SLC19A2):c.346C>T (p.Leu116Phe) single nucleotide variant Inborn genetic diseases [RCV004672182] Chr1:169477616 [GRCh38]
Chr1:169446854 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.1201A>G (p.Met401Val) single nucleotide variant Inborn genetic diseases [RCV004676553] Chr1:169468666 [GRCh38]
Chr1:169437904 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.895T>A (p.Ser299Thr) single nucleotide variant Inborn genetic diseases [RCV004676554] Chr1:169470099 [GRCh38]
Chr1:169439337 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.1267G>C (p.Val423Leu) single nucleotide variant Inborn genetic diseases [RCV004672183] Chr1:169468209 [GRCh38]
Chr1:169437447 [GRCh37]
Chr1:1q24.2
uncertain significance
NM_006996.3(SLC19A2):c.1223C>T (p.Thr408Ile) single nucleotide variant not provided [RCV004592232] Chr1:169468644 [GRCh38]
Chr1:169437882 [GRCh37]
Chr1:1q24.2
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1102
Count of miRNA genes:437
Interacting mature miRNAs:502
Transcripts:ENST00000236137, ENST00000367804
Prediction methods:Microtar, Miranda, 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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407290917GWAS939893_Hcalcium/calmodulin-dependent protein kinase type 1 measurement QTL GWAS939893 (human)4e-35calcium/calmodulin-dependent protein kinase type 1 measurement1169473152169473153Human
407042177GWAS691153_HQT interval QTL GWAS691153 (human)1e-15QT intervalQT interval (CMO:0000235)1169476945169476946Human
406991909GWAS640885_HQT interval QTL GWAS640885 (human)2e-09QT intervalQT interval (CMO:0000235)1169476945169476946Human

Markers in Region
SHGC-75880  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371169,433,275 - 169,433,410UniSTSGRCh37
Build 361167,699,899 - 167,700,034RGDNCBI36
Celera1142,543,056 - 142,543,191RGD
Cytogenetic Map1q23.3UniSTS
HuRef1140,656,318 - 140,656,453UniSTS
GeneMap99-GB4 RH Map1613.64UniSTS
SLC19A2_1484  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371169,433,105 - 169,433,789UniSTSGRCh37
Build 361167,699,729 - 167,700,413RGDNCBI36
Celera1142,542,886 - 142,543,570RGD
HuRef1140,656,148 - 140,656,832UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1204 2432 2788 2244 4942 1723 2345 4 622 1941 464 2268 7275 6448 52 3708 847 1731 1612 170

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001319667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006996 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209540 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF135488 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF153330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF158233 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF160186 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF160756 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF160812 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF272359 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ237724 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ238413 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304021 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL021068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY288293 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC018514 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU608154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB150382 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU302825 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM582440 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ968415 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178534 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178535 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000236137   ⟹   ENSP00000236137
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1169,463,909 - 169,485,944 (-)Ensembl
Ensembl Acc Id: ENST00000367804   ⟹   ENSP00000356778
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1169,463,929 - 169,485,931 (-)Ensembl
Ensembl Acc Id: ENST00000643377
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1169,463,932 - 169,469,197 (-)Ensembl
Ensembl Acc Id: ENST00000646596   ⟹   ENSP00000494404
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1169,464,048 - 169,485,941 (-)Ensembl
RefSeq Acc Id: NM_001319667   ⟹   NP_001306596
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381169,463,909 - 169,485,970 (-)NCBI
CHM1_11170,855,181 - 170,877,241 (-)NCBI
T2T-CHM13v2.01168,819,254 - 168,841,316 (-)NCBI
Sequence:
RefSeq Acc Id: NM_006996   ⟹   NP_008927
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381169,463,909 - 169,485,944 (-)NCBI
GRCh371169,433,147 - 169,455,208 (-)ENTREZGENE
GRCh371169,433,147 - 169,455,208 (-)NCBI
Build 361167,699,791 - 167,721,865 (-)NCBI Archive
HuRef1140,656,190 - 140,678,233 (-)ENTREZGENE
CHM1_11170,855,181 - 170,877,241 (-)NCBI
T2T-CHM13v2.01168,819,254 - 168,841,290 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001306596 (Get FASTA)   NCBI Sequence Viewer  
  NP_008927 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAD43534 (Get FASTA)   NCBI Sequence Viewer  
  AAD45985 (Get FASTA)   NCBI Sequence Viewer  
  AAD51280 (Get FASTA)   NCBI Sequence Viewer  
  AAD51283 (Get FASTA)   NCBI Sequence Viewer  
  AAD54242 (Get FASTA)   NCBI Sequence Viewer  
  AAF15129 (Get FASTA)   NCBI Sequence Viewer  
  AAH18514 (Get FASTA)   NCBI Sequence Viewer  
  AAK54468 (Get FASTA)   NCBI Sequence Viewer  
  AAP37965 (Get FASTA)   NCBI Sequence Viewer  
  ABY51619 (Get FASTA)   NCBI Sequence Viewer  
  ADP24156 (Get FASTA)   NCBI Sequence Viewer  
  AFO38177 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33992 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33993 (Get FASTA)   NCBI Sequence Viewer  
  BAD92777 (Get FASTA)   NCBI Sequence Viewer  
  BAG36517 (Get FASTA)   NCBI Sequence Viewer  
  BAG64936 (Get FASTA)   NCBI Sequence Viewer  
  BAH14836 (Get FASTA)   NCBI Sequence Viewer  
  CAB50770 (Get FASTA)   NCBI Sequence Viewer  
  CAB50771 (Get FASTA)   NCBI Sequence Viewer  
  EAW90843 (Get FASTA)   NCBI Sequence Viewer  
  EAW90844 (Get FASTA)   NCBI Sequence Viewer  
  EAW90845 (Get FASTA)   NCBI Sequence Viewer  
  EAW90846 (Get FASTA)   NCBI Sequence Viewer  
  EAW90847 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000236137
  ENSP00000236137.5
  ENSP00000356778
  ENSP00000356778.3
  ENSP00000494404.1
GenBank Protein O60779 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_008927   ⟸   NM_006996
- Peptide Label: isoform 1
- UniProtKB: Q9UN31 (UniProtKB/Swiss-Prot),   Q9UKJ2 (UniProtKB/Swiss-Prot),   Q9UBL7 (UniProtKB/Swiss-Prot),   Q8WV87 (UniProtKB/Swiss-Prot),   B4E1X4 (UniProtKB/Swiss-Prot),   B2R9H0 (UniProtKB/Swiss-Prot),   Q9UN43 (UniProtKB/Swiss-Prot),   O60779 (UniProtKB/Swiss-Prot),   A0A024R928 (UniProtKB/TrEMBL),   A0A0S2Z5K7 (UniProtKB/TrEMBL),   A0A2R8Y5B5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001306596   ⟸   NM_001319667
- Peptide Label: isoform 2
- UniProtKB: A0A024R8Y5 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000356778   ⟸   ENST00000367804
Ensembl Acc Id: ENSP00000236137   ⟸   ENST00000236137
Ensembl Acc Id: ENSP00000494404   ⟸   ENST00000646596

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O60779-F1-model_v2 AlphaFold O60779 1-497 view protein structure

Promoters
RGD ID:6785481
Promoter ID:HG_KWN:6105
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000367802,   ENST00000392097,   OTTHUMT00000086106,   OTTHUMT00000086107
Position:
Human AssemblyChrPosition (strand)Source
Build 361167,721,146 - 167,722,082 (+)MPROMDB
RGD ID:6858068
Promoter ID:EPDNEW_H2199
Type:initiation region
Name:SLC19A2_1
Description:solute carrier family 19 member 2
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
GRCh381169,485,944 - 169,486,004EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:10938 AgrOrtholog
COSMIC SLC19A2 COSMIC
Ensembl Genes ENSG00000117479 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000236137 ENTREZGENE
  ENST00000236137.10 UniProtKB/Swiss-Prot
  ENST00000367804 ENTREZGENE
  ENST00000367804.4 UniProtKB/Swiss-Prot
  ENST00000646596.1 UniProtKB/TrEMBL
Gene3D-CATH 1.20.1250.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000117479 GTEx
HGNC ID HGNC:10938 ENTREZGENE
Human Proteome Map SLC19A2 Human Proteome Map
InterPro Folate_carrier UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MFS_trans_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ThTr-1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:10560 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 10560 ENTREZGENE
OMIM 603941 OMIM
PANTHER PTHR10686 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  THIAMINE TRANSPORTER 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Folate_carrier UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA35825 PharmGKB
PIRSF Folate_carrier UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Thiamine_transporter_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF103473 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R8Y5 ENTREZGENE, UniProtKB/TrEMBL
  A0A024R928 ENTREZGENE, UniProtKB/TrEMBL
  A0A0S2Z5K7 ENTREZGENE
  A0A2R8Y5B5 ENTREZGENE, UniProtKB/TrEMBL
  B0FBR7_HUMAN UniProtKB/TrEMBL
  B2R9H0 ENTREZGENE
  B4E1X4 ENTREZGENE
  E3UTN9_HUMAN UniProtKB/TrEMBL
  I7BB09_HUMAN UniProtKB/TrEMBL
  O60779 ENTREZGENE
  Q7Z7J1_HUMAN UniProtKB/TrEMBL
  Q8WV87 ENTREZGENE
  Q9UBL7 ENTREZGENE
  Q9UKJ2 ENTREZGENE
  Q9UN31 ENTREZGENE
  Q9UN43 ENTREZGENE
  S19A2_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A0A0S2Z5K7 UniProtKB/TrEMBL
  B2R9H0 UniProtKB/Swiss-Prot
  B4E1X4 UniProtKB/Swiss-Prot
  Q8WV87 UniProtKB/Swiss-Prot
  Q9UBL7 UniProtKB/Swiss-Prot
  Q9UKJ2 UniProtKB/Swiss-Prot
  Q9UN31 UniProtKB/Swiss-Prot
  Q9UN43 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-23 SLC19A2  solute carrier family 19 member 2  SLC19A2  solute carrier family 19 (thiamine transporter), member 2  Symbol and/or name change 5135510 APPROVED