FLVCR1 (FLVCR heme transporter 1) - Rat Genome Database

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Gene: FLVCR1 (FLVCR heme transporter 1) Homo sapiens
Analyze
Symbol: FLVCR1
Name: FLVCR heme transporter 1
RGD ID: 1606303
HGNC Page HGNC
Description: Exhibits heme transmembrane transporter activity. Involved in erythrocyte differentiation; heme export; and mitochondrial transport. Localizes to mitochondrion.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ataxia, posterior column 1, with retinitis pigmentosa; AXPC1; feline leukemia virus subgroup C cellular receptor 1; feline leukemia virus subgroup C receptor; feline leukemia virus subgroup C receptor-related protein 1; FLJ33420; FLVCR; hFLVCR; MFSD7B; PCA; PCARP; SLC49A1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1212,858,275 - 212,899,363 (+)EnsemblGRCh38hg38GRCh38
GRCh381212,858,275 - 212,899,363 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371213,031,617 - 213,072,705 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361211,098,220 - 211,135,379 (+)NCBINCBI36hg18NCBI36
Celera1186,257,592 - 186,295,983 (+)NCBI
Cytogenetic Map1q32.3NCBI
HuRef1183,708,670 - 183,749,562 (+)NCBIHuRef
CHM1_11214,303,965 - 214,345,035 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:9409377   PMID:9921862   PMID:10400745   PMID:10648427   PMID:10737800   PMID:11943475   PMID:12477932   PMID:14702039   PMID:15369674   PMID:15489334   PMID:15996880   PMID:16368877  
PMID:16439531   PMID:17945326   PMID:18815190   PMID:19369334   PMID:19416867   PMID:20222826   PMID:20454576   PMID:20610401   PMID:21070897   PMID:21238504   PMID:21267618   PMID:21593354  
PMID:21873635   PMID:22279524   PMID:22483575   PMID:23187127   PMID:24576667   PMID:25795718   PMID:26058344   PMID:26067085   PMID:26186194   PMID:26638075   PMID:27880917   PMID:27923065  
PMID:28514442   PMID:28611215   PMID:28706239   PMID:28766925   PMID:29192808   PMID:29509794   PMID:30194290   PMID:30309647   PMID:30352685   PMID:30442766   PMID:30444160   PMID:30639242  
PMID:30656474   PMID:31073040   PMID:31091453   PMID:31884612   PMID:33060197  


Genomics

Comparative Map Data
FLVCR1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1212,858,275 - 212,899,363 (+)EnsemblGRCh38hg38GRCh38
GRCh381212,858,275 - 212,899,363 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371213,031,617 - 213,072,705 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361211,098,220 - 211,135,379 (+)NCBINCBI36hg18NCBI36
Celera1186,257,592 - 186,295,983 (+)NCBI
Cytogenetic Map1q32.3NCBI
HuRef1183,708,670 - 183,749,562 (+)NCBIHuRef
CHM1_11214,303,965 - 214,345,035 (+)NCBICHM1_1
Flvcr1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391190,738,029 - 190,758,387 (-)NCBIGRCm39mm39
GRCm39 Ensembl1190,738,044 - 190,758,355 (-)Ensembl
GRCm381191,005,832 - 191,026,190 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1191,005,847 - 191,026,158 (-)EnsemblGRCm38mm10GRCm38
MGSCv371192,829,711 - 192,850,069 (-)NCBIGRCm37mm9NCBIm37
MGSCv361192,706,447 - 192,726,805 (-)NCBImm8
Celera1197,930,699 - 197,951,041 (-)NCBICelera
Cytogenetic Map1H6NCBI
Flvcr1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.213102,586,263 - 102,608,647 (-)NCBI
Rnor_6.0 Ensembl13109,578,074 - 109,629,482 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.013109,578,294 - 109,624,235 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.013114,180,812 - 114,183,817 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.013114,211,863 - 114,224,490 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera13102,055,793 - 102,074,779 (-)NCBICelera
Cytogenetic Map13q27NCBI
Flvcr1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554064,674,140 - 4,702,763 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554064,673,797 - 4,702,858 (-)NCBIChiLan1.0ChiLan1.0
FLVCR1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11193,284,158 - 193,321,962 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1193,284,158 - 193,320,554 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01188,425,697 - 188,466,721 (+)NCBIMhudiblu_PPA_v0panPan3
FLVCR1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1711,001,155 - 11,038,910 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl711,001,101 - 11,035,980 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha710,576,761 - 10,614,312 (+)NCBI
ROS_Cfam_1.0710,707,668 - 10,745,429 (+)NCBI
UMICH_Zoey_3.1710,630,123 - 10,667,529 (+)NCBI
UNSW_CanFamBas_1.0710,731,550 - 10,769,463 (+)NCBI
UU_Cfam_GSD_1.0710,856,188 - 10,893,897 (+)NCBI
Flvcr1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934463,453,117 - 63,486,909 (-)NCBI
SpeTri2.0NW_004936557693,445 - 727,166 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FLVCR1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl9130,539,854 - 130,570,702 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.19130,543,911 - 130,570,486 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.29143,470,869 - 143,497,447 (-)NCBISscrofa10.2Sscrofa10.2susScr3
FLVCR1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12516,656,219 - 16,688,397 (-)NCBI
ChlSab1.1 Ensembl2516,652,246 - 16,688,376 (-)Ensembl
Flvcr1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462477118,239,437 - 18,270,408 (+)NCBI

Position Markers
D1S217  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371213,048,220 - 213,048,365UniSTSGRCh37
GRCh371213,048,234 - 213,048,363UniSTSGRCh37
Build 361211,114,857 - 211,114,986RGDNCBI36
Celera1186,274,053 - 186,274,182RGD
Celera1186,274,039 - 186,274,184UniSTS
Cytogenetic Map1q32.3UniSTS
HuRef1183,725,134 - 183,725,289UniSTS
HuRef1183,725,148 - 183,725,287UniSTS
Marshfield Genetic Map1231.11RGD
Genethon Genetic Map1235.8UniSTS
deCODE Assembly Map1216.0UniSTS
Stanford-G3 RH Map18292.0UniSTS
GeneMap99-GB4 RH Map1696.73UniSTS
Whitehead-RH Map1846.9UniSTS
Whitehead-YAC Contig Map1 UniSTS
NCBI RH Map11877.3UniSTS
GeneMap99-G3 RH Map18248.0UniSTS
SHGC-76320  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371213,072,458 - 213,072,612UniSTSGRCh37
Build 361211,139,081 - 211,139,235RGDNCBI36
Celera1186,298,204 - 186,298,358RGD
Cytogenetic Map1q32.3UniSTS
HuRef1183,749,315 - 183,749,469UniSTS
TNG Radiation Hybrid Map1104872.0UniSTS
GeneMap99-GB4 RH Map1696.73UniSTS
Whitehead-RH Map1846.9UniSTS
NCBI RH Map11877.9UniSTS
SHGC-38147  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371213,030,045 - 213,030,308UniSTSGRCh37
Build 361211,096,668 - 211,096,931RGDNCBI36
Celera1186,256,041 - 186,256,304RGD
Cytogenetic Map1q41UniSTS
Cytogenetic Map1q32.3UniSTS
HuRef1183,707,119 - 183,707,382UniSTS
TNG Radiation Hybrid Map1104817.0UniSTS
GeneMap99-GB4 RH Map1696.43UniSTS
Whitehead-RH Map1858.3UniSTS
NCBI RH Map11878.6UniSTS
RH64654  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371213,071,436 - 213,071,628UniSTSGRCh37
Build 361211,138,059 - 211,138,251RGDNCBI36
Celera1186,297,182 - 186,297,374RGD
Cytogenetic Map1q32.3UniSTS
HuRef1183,748,293 - 183,748,485UniSTS
SHGC-151048  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371213,048,184 - 213,048,366UniSTSGRCh37
Build 361211,114,807 - 211,114,989RGDNCBI36
Celera1186,274,003 - 186,274,185RGD
Cytogenetic Map1q32.3UniSTS
HuRef1183,725,098 - 183,725,290UniSTS
TNG Radiation Hybrid Map835380.0UniSTS
TNG Radiation Hybrid Map1104854.0UniSTS
PMC16555P2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371213,068,313 - 213,068,585UniSTSGRCh37
Build 361211,134,936 - 211,135,208RGDNCBI36
Celera1186,294,099 - 186,294,371RGD
Cytogenetic Map1q32.3UniSTS
HuRef1183,745,209 - 183,745,481UniSTS
A002T39  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371213,072,447 - 213,072,622UniSTSGRCh37
Build 361211,139,070 - 211,139,245RGDNCBI36
Celera1186,298,193 - 186,298,368RGD
Cytogenetic Map1q32.3UniSTS
HuRef1183,749,304 - 183,749,479UniSTS
GeneMap99-GB4 RH Map1696.73UniSTS
NCBI RH Map11877.3UniSTS
SHGC-76322  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371213,071,434 - 213,071,628UniSTSGRCh37
Build 361211,138,057 - 211,138,251RGDNCBI36
Celera1186,297,180 - 186,297,374RGD
Cytogenetic Map1q32.3UniSTS
HuRef1183,748,291 - 183,748,485UniSTS
TNG Radiation Hybrid Map1104872.0UniSTS
GeneMap99-GB4 RH Map1696.73UniSTS
NCBI RH Map11877.3UniSTS
D10S16   No map positions available.
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.1-p12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map13q14.1-q14.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17p13.1-p12UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5q14.2UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map5q32-q34UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map8p22-p21UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map7q32.2UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map14q31-q32.1UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map20p11.23-p11.21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map4q21.23UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map12q24.11UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map7q34-q35UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map6p25.1-p23UniSTS
Cytogenetic Map11p15.4UniSTS
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Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1pUniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS
D1S217  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1q32.3UniSTS
Marshfield Genetic Map1231.11UniSTS
Genethon Genetic Map1235.8UniSTS
deCODE Assembly Map1216.0UniSTS
GeneMap99-GB4 RH Map1696.73UniSTS
Whitehead-RH Map1846.9UniSTS
Whitehead-YAC Contig Map1 UniSTS
NCBI RH Map11877.3UniSTS
D10S16  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map2q11.2-q12UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map3p22UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map9p13.3-p12UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map5q21-q22UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map1q24.1UniSTS
Cytogenetic Map7q32.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map4q34UniSTS
Cytogenetic Map2p22-p21UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map1p36.23UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map11p15.3-p15.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map3q26UniSTS
Cytogenetic Map12p12.1-p11.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic MapXq23UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map5p15.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map17qterUniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map20q12-q13.12UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map5q31.2-q34UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map1pter-q31.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map3p23-p21UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16p13.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1p36.1-p34UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map15q21.1-q21.2UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map3p11.1UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic MapXq21UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map15q24.2UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map2q34UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map3p23UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map4p15.3UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map12q12-q13UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map19qterUniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map17pUniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map2p13.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map3q26.2UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1897
Count of miRNA genes:1005
Interacting mature miRNAs:1183
Transcripts:ENST00000366971, ENST00000419102, ENST00000474693, ENST00000483790, ENST00000579295
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 235 13 299 57 675 60 250 35 566 60 236 241 3 1 24 2
Low 2204 2687 1415 555 1084 393 3924 1881 3152 355 1222 1371 170 1 1203 2582 3 2
Below cutoff 288 12 12 191 12 182 278 15 4 1 1 182 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_028131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011509446 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011509447 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011509448 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_247024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_426771 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_426772 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_921769 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC104333 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF118637 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001419 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK090739 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314481 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC048312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE088852 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BY800024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ496107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GD138340 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000366971   ⟹   ENSP00000355938
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1212,858,275 - 212,899,363 (+)Ensembl
RefSeq Acc Id: ENST00000419102   ⟹   ENSP00000414680
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1212,858,916 - 212,895,334 (+)Ensembl
RefSeq Acc Id: ENST00000474693
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1212,864,412 - 212,885,565 (+)Ensembl
RefSeq Acc Id: ENST00000483790
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1212,883,409 - 212,895,394 (+)Ensembl
RefSeq Acc Id: ENST00000579295
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1212,863,631 - 212,870,166 (+)Ensembl
RefSeq Acc Id: NM_014053   ⟹   NP_054772
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381212,858,275 - 212,899,363 (+)NCBI
GRCh371213,031,597 - 213,072,705 (+)ENTREZGENE
Build 361211,098,220 - 211,135,379 (+)NCBI Archive
HuRef1183,708,670 - 183,749,562 (+)ENTREZGENE
CHM1_11214,303,965 - 214,345,035 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011509446   ⟹   XP_011507748
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381212,858,279 - 212,896,221 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011509447   ⟹   XP_011507749
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381212,858,279 - 212,872,782 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011509448   ⟹   XP_011507750
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381212,858,279 - 212,872,763 (+)NCBI
Sequence:
RefSeq Acc Id: XR_247024
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381212,858,279 - 212,896,221 (+)NCBI
GRCh371213,031,597 - 213,072,705 (+)NCBI
Sequence:
RefSeq Acc Id: XR_426771
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381212,858,279 - 212,885,389 (+)NCBI
Sequence:
RefSeq Acc Id: XR_426772
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381212,858,279 - 212,872,782 (+)NCBI
Sequence:
RefSeq Acc Id: XR_921769
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381212,858,279 - 212,872,763 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_054772   ⟸   NM_014053
- UniProtKB: Q9Y5Y0 (UniProtKB/Swiss-Prot),   B2RB38 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011507748   ⟸   XM_011509446
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011507749   ⟸   XM_011509447
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011507750   ⟸   XM_011509448
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000414680   ⟸   ENST00000419102
RefSeq Acc Id: ENSP00000355938   ⟸   ENST00000366971
Protein Domains
MFS

Promoters
RGD ID:6785619
Promoter ID:HG_KWN:7275
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000356684,   OTTHUMT00000089675,   OTTHUMT00000089676,   OTTHUMT00000089677,   OTTHUMT00000089678,   OTTHUMT00000089681
Position:
Human AssemblyChrPosition (strand)Source
Build 361211,097,959 - 211,098,459 (+)MPROMDB
RGD ID:6858954
Promoter ID:EPDNEW_H2642
Type:initiation region
Name:FLVCR1_1
Description:feline leukemia virus subgroup C cellular receptor 1
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
GRCh381212,858,283 - 212,858,343EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_014053.4(FLVCR1):c.267G>A (p.Glu89=) single nucleotide variant not specified [RCV000517338] Chr1:212858719 [GRCh38]
Chr1:213032061 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.1619A>G (p.Gln540Arg) single nucleotide variant not provided [RCV001227799]|not specified [RCV000516409] Chr1:212895241 [GRCh38]
Chr1:213068583 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.1377dup (p.Gly460fs) duplication not provided [RCV000523680] Chr1:212888556..212888557 [GRCh38]
Chr1:213061898..213061899 [GRCh37]
Chr1:1q32.3
pathogenic
NM_014053.4(FLVCR1):c.364G>A (p.Ala122Thr) single nucleotide variant not specified [RCV000518442] Chr1:212858816 [GRCh38]
Chr1:213032158 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.1477G>C (p.Gly493Arg) single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV000023754] Chr1:212889209 [GRCh38]
Chr1:213062551 [GRCh37]
Chr1:1q32.3
pathogenic
NM_014053.4(FLVCR1):c.361A>G (p.Asn121Asp) single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV000001933]|not provided [RCV001046647] Chr1:212858813 [GRCh38]
Chr1:213032155 [GRCh37]
Chr1:1q32.3
pathogenic
NM_014053.4(FLVCR1):c.721G>A (p.Ala241Thr) single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV000001934] Chr1:212859173 [GRCh38]
Chr1:213032515 [GRCh37]
Chr1:1q32.3
pathogenic
NM_014053.4(FLVCR1):c.574T>C (p.Cys192Arg) single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV000001935] Chr1:212859026 [GRCh38]
Chr1:213032368 [GRCh37]
Chr1:1q32.3
pathogenic
NM_014053.4(FLVCR1):c.1097A>T (p.Glu366Val) single nucleotide variant not provided [RCV001236757]|not specified [RCV000518471] Chr1:212885297 [GRCh38]
Chr1:213058639 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.1158T>G (p.Ile386Met) single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV001099906]|not provided [RCV000522010] Chr1:212885358 [GRCh38]
Chr1:213058700 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.1546C>T (p.Arg516Ter) single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV000986511]|not provided [RCV000578557] Chr1:212895006 [GRCh38]
Chr1:213068348 [GRCh37]
Chr1:1q32.3
pathogenic|uncertain significance
GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3 copy number gain See cases [RCV000051857] Chr1:187143981..224299417 [GRCh38]
Chr1:187113113..224487119 [GRCh37]
Chr1:185379736..222553742 [NCBI36]
Chr1:1q31.1-42.11
pathogenic
GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3 copy number gain See cases [RCV000051861] Chr1:209646207..248931113 [GRCh38]
Chr1:209819552..249225312 [GRCh37]
Chr1:207886175..247191935 [NCBI36]
Chr1:1q32.2-44
pathogenic
NM_014053.4(FLVCR1):c.154G>C (p.Ala52Pro) single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV000349578]|not provided [RCV000992002]|not specified [RCV000117087] Chr1:212858606 [GRCh38]
Chr1:213031948 [GRCh37]
Chr1:1q32.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_014053.4(FLVCR1):c.1631C>T (p.Thr544Met) single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV000330210]|not provided [RCV000992006]|not specified [RCV000117088] Chr1:212895253 [GRCh38]
Chr1:213068595 [GRCh37]
Chr1:1q32.3
benign|likely benign
NM_014053.4(FLVCR1):c.1457C>T (p.Ser486Leu) single nucleotide variant not provided [RCV001302709] Chr1:212889189 [GRCh38]
Chr1:213062531 [GRCh37]
Chr1:1q32.3
uncertain significance
GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3 copy number gain See cases [RCV000134979] Chr1:209963625..248918469 [GRCh38]
Chr1:210136970..249212668 [GRCh37]
Chr1:208203593..247179291 [NCBI36]
Chr1:1q32.2-44
pathogenic
GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3 copy number gain See cases [RCV000142054] Chr1:204764914..225408698 [GRCh38]
Chr1:204734042..225596400 [GRCh37]
Chr1:203000665..223663023 [NCBI36]
Chr1:1q32.1-42.12
pathogenic
GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3 copy number gain See cases [RCV000143727] Chr1:207346642..248930485 [GRCh38]
Chr1:207519987..249224684 [GRCh37]
Chr1:205586610..247191307 [NCBI36]
Chr1:1q32.2-44
pathogenic
NM_014053.4(FLVCR1):c.*1627T>G single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV000260398] Chr1:212896917 [GRCh38]
Chr1:213070259 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.1657T>G (p.Ser553Ala) single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV000387027]|Retinal dystrophy [RCV001074738]|not provided [RCV000422945] Chr1:212895279 [GRCh38]
Chr1:213068621 [GRCh37]
Chr1:1q32.3
conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3 copy number gain See cases [RCV000240137] Chr1:197811907..228997888 [GRCh37]
Chr1:1q31.3-42.13
pathogenic
NM_014053.4(FLVCR1):c.*3482C>G single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV000261955] Chr1:212898772 [GRCh38]
Chr1:213072114 [GRCh37]
Chr1:1q32.3
benign|uncertain significance
NM_014053.4(FLVCR1):c.*3260T>C single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV000265532] Chr1:212898550 [GRCh38]
Chr1:213071892 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.385A>G (p.Ser129Gly) single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV000399654] Chr1:212858837 [GRCh38]
Chr1:213032179 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.*1793C>T single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV000264103] Chr1:212897083 [GRCh38]
Chr1:213070425 [GRCh37]
Chr1:1q32.3
benign
NM_014053.4(FLVCR1):c.738+9T>C single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV000299297]|not provided [RCV000517649] Chr1:212859199 [GRCh38]
Chr1:213032541 [GRCh37]
Chr1:1q32.3
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014053.4(FLVCR1):c.1593+9T>C single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV000292110]|not provided [RCV000992005] Chr1:212895062 [GRCh38]
Chr1:213068404 [GRCh37]
Chr1:1q32.3
benign
NM_014053.4(FLVCR1):c.952G>A (p.Glu318Lys) single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV000266137]|not provided [RCV000516759] Chr1:212872746 [GRCh38]
Chr1:213046088 [GRCh37]
Chr1:1q32.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014053.4(FLVCR1):c.1059G>A (p.Thr353=) single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV000269781] Chr1:212883405 [GRCh38]
Chr1:213056747 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.1521A>G (p.Leu507=) single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV000384014] Chr1:212889253 [GRCh38]
Chr1:213062595 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.962A>G (p.Tyr321Cys) single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV000323515] Chr1:212872756 [GRCh38]
Chr1:213046098 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.1272T>C (p.Tyr424=) single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV000327209]|not specified [RCV001288602] Chr1:212887966 [GRCh38]
Chr1:213061308 [GRCh37]
Chr1:1q32.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_014053.4(FLVCR1):c.595C>T (p.Leu199Phe) single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV000352893]|not provided [RCV001071872]|not specified [RCV000516697] Chr1:212859047 [GRCh38]
Chr1:213032389 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.*931C>T single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV000285744] Chr1:212896221 [GRCh38]
Chr1:213069563 [GRCh37]
Chr1:1q32.3
benign
NM_014053.4(FLVCR1):c.*279T>C single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV000280187] Chr1:212895569 [GRCh38]
Chr1:213068911 [GRCh37]
Chr1:1q32.3
benign|uncertain significance
NM_014053.4(FLVCR1):c.*2949G>A single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV000280886] Chr1:212898239 [GRCh38]
Chr1:213071581 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.*855T>C single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV000280937] Chr1:212896145 [GRCh38]
Chr1:213069487 [GRCh37]
Chr1:1q32.3
benign|likely benign
NM_014053.4(FLVCR1):c.*788C>T single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV000273777] Chr1:212896078 [GRCh38]
Chr1:213069420 [GRCh37]
Chr1:1q32.3
benign
GRCh37/hg19 1q32.3(chr1:212859808-213336495)x3 copy number gain See cases [RCV000240263] Chr1:212859808..213336495 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.1085A>G (p.Tyr362Cys) single nucleotide variant not provided [RCV001054506]|not specified [RCV000517279] Chr1:212883431 [GRCh38]
Chr1:213056773 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.*2419G>A single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV000270129] Chr1:212897709 [GRCh38]
Chr1:213071051 [GRCh37]
Chr1:1q32.3
benign
NM_014053.4(FLVCR1):c.*626T>A single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV000269891] Chr1:212895916 [GRCh38]
Chr1:213069258 [GRCh37]
Chr1:1q32.3
benign
NM_014053.4(FLVCR1):c.*1566A>T single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV000275853] Chr1:212896856 [GRCh38]
Chr1:213070198 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.*2189G>A single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV000266498] Chr1:212897479 [GRCh38]
Chr1:213070821 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.*32T>C single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV000352433] Chr1:212895322 [GRCh38]
Chr1:213068664 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.*1751C>T single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV000374952] Chr1:212897041 [GRCh38]
Chr1:213070383 [GRCh37]
Chr1:1q32.3
benign|likely benign
NM_014053.4(FLVCR1):c.*166G>A single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV000396345] Chr1:212895456 [GRCh38]
Chr1:213068798 [GRCh37]
Chr1:1q32.3
likely benign|uncertain significance
NM_014053.4(FLVCR1):c.*1600G>A single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV000314658] Chr1:212896890 [GRCh38]
Chr1:213070232 [GRCh37]
Chr1:1q32.3
benign
NM_014053.4(FLVCR1):c.*1609A>G single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV000353135] Chr1:212896899 [GRCh38]
Chr1:213070241 [GRCh37]
Chr1:1q32.3
benign
NM_014053.4(FLVCR1):c.*2164G>A single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV000301239] Chr1:212897454 [GRCh38]
Chr1:213070796 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.*2887C>T single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV000334559] Chr1:212898177 [GRCh38]
Chr1:213071519 [GRCh37]
Chr1:1q32.3
likely benign|uncertain significance
NM_014053.4(FLVCR1):c.*1317A>G single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV000399454] Chr1:212896607 [GRCh38]
Chr1:213069949 [GRCh37]
Chr1:1q32.3
benign|uncertain significance
NM_014053.4(FLVCR1):c.*3313G>T single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV000356662] Chr1:212898603 [GRCh38]
Chr1:213071945 [GRCh37]
Chr1:1q32.3
benign
NM_014053.4(FLVCR1):c.*3226T>C single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV000400809] Chr1:212898516 [GRCh38]
Chr1:213071858 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.*377T>C single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV000401651] Chr1:212895667 [GRCh38]
Chr1:213069009 [GRCh37]
Chr1:1q32.3
benign|likely benign
NM_014053.4(FLVCR1):c.*1739C>T single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV000317981] Chr1:212897029 [GRCh38]
Chr1:213070371 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.*284G>A single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV000337546] Chr1:212895574 [GRCh38]
Chr1:213068916 [GRCh37]
Chr1:1q32.3
likely benign|uncertain significance
NM_014053.4(FLVCR1):c.*2968G>A single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV000338233] Chr1:212898258 [GRCh38]
Chr1:213071600 [GRCh37]
Chr1:1q32.3
benign
NM_014053.4(FLVCR1):c.*891A>G single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV000338314] Chr1:212896181 [GRCh38]
Chr1:213069523 [GRCh37]
Chr1:1q32.3
benign|likely benign
NM_014053.4(FLVCR1):c.*2188C>T single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV000358412] Chr1:212897478 [GRCh38]
Chr1:213070820 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.*353A>G single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV000358932] Chr1:212895643 [GRCh38]
Chr1:213068985 [GRCh37]
Chr1:1q32.3
benign|likely benign
NM_014053.4(FLVCR1):c.*3264T>C single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV000320679] Chr1:212898554 [GRCh38]
Chr1:213071896 [GRCh37]
Chr1:1q32.3
benign|uncertain significance
NM_014053.4(FLVCR1):c.*3129A>T single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV000360400] Chr1:212898419 [GRCh38]
Chr1:213071761 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.*3241C>T single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV000360242] Chr1:212898531 [GRCh38]
Chr1:213071873 [GRCh37]
Chr1:1q32.3
benign|uncertain significance
NM_014053.4(FLVCR1):c.-87G>A single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV000382638] Chr1:212858366 [GRCh38]
Chr1:213031708 [GRCh37]
Chr1:1q32.3
likely benign|uncertain significance
NM_014053.4(FLVCR1):c.-86C>T single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV000288954] Chr1:212858367 [GRCh38]
Chr1:213031709 [GRCh37]
Chr1:1q32.3
benign
NM_014053.4(FLVCR1):c.*1880_*1883TAAA[10] microsatellite Posterior column ataxia-retinitis pigmentosa syndrome [RCV000290794] Chr1:212897167..212897170 [GRCh38]
Chr1:213070509..213070512 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.*1826C>T single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV000322387] Chr1:212897116 [GRCh38]
Chr1:213070458 [GRCh37]
Chr1:1q32.3
benign
NM_014053.4(FLVCR1):c.-156del deletion Posterior column ataxia-retinitis pigmentosa syndrome [RCV000341977] Chr1:212858297 [GRCh38]
Chr1:213031639 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.*569C>G single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV000362152] Chr1:212895859 [GRCh38]
Chr1:213069201 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.*1106C>T single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV000343068] Chr1:212896396 [GRCh38]
Chr1:213069738 [GRCh37]
Chr1:1q32.3
benign
NM_014053.4(FLVCR1):c.*2578G>A single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV000292309] Chr1:212897868 [GRCh38]
Chr1:213071210 [GRCh37]
Chr1:1q32.3
benign
NM_014053.4(FLVCR1):c.*1880_*1883TAAA[7] microsatellite Posterior column ataxia-retinitis pigmentosa syndrome [RCV000344485] Chr1:212897167..212897182 [GRCh38]
Chr1:213070509..213070524 [GRCh37]
Chr1:1q32.3
benign
NM_014053.4(FLVCR1):c.*673G>A single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV000365698] Chr1:212895963 [GRCh38]
Chr1:213069305 [GRCh37]
Chr1:1q32.3
benign
NM_014053.4(FLVCR1):c.*2709T>C single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV000388025] Chr1:212897999 [GRCh38]
Chr1:213071341 [GRCh37]
Chr1:1q32.3
benign
NM_014053.4(FLVCR1):c.*2443C>T single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV000327252] Chr1:212897733 [GRCh38]
Chr1:213071075 [GRCh37]
Chr1:1q32.3
benign|uncertain significance
NM_014053.4(FLVCR1):c.*1300A>G single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV000346276] Chr1:212896590 [GRCh38]
Chr1:213069932 [GRCh37]
Chr1:1q32.3
likely benign|uncertain significance
NM_014053.4(FLVCR1):c.*657A>G single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV000327327] Chr1:212895947 [GRCh38]
Chr1:213069289 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.*1544A>G single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV000368128] Chr1:212896834 [GRCh38]
Chr1:213070176 [GRCh37]
Chr1:1q32.3
benign|likely benign
NM_014053.4(FLVCR1):c.*2813G>A single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV000296055] Chr1:212898103 [GRCh38]
Chr1:213071445 [GRCh37]
Chr1:1q32.3
benign
NM_014053.4(FLVCR1):c.*1422T>A single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV000311243] Chr1:212896712 [GRCh38]
Chr1:213070054 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.*1940G>A single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV000348221] Chr1:212897230 [GRCh38]
Chr1:213070572 [GRCh37]
Chr1:1q32.3
benign|likely benign
NM_014053.4(FLVCR1):c.*3739G>A single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV000371561] Chr1:212899029 [GRCh38]
Chr1:213072371 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.*1151A>G single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV000394714] Chr1:212896441 [GRCh38]
Chr1:213069783 [GRCh37]
Chr1:1q32.3
benign
NM_014053.4(FLVCR1):c.*2059T>C single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV000312672] Chr1:212897349 [GRCh38]
Chr1:213070691 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.*838_*839CT[2] microsatellite Posterior column ataxia-retinitis pigmentosa syndrome [RCV000331150] Chr1:212896128..212896129 [GRCh38]
Chr1:213069470..213069471 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.*844T>C single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV000373112] Chr1:212896134 [GRCh38]
Chr1:213069476 [GRCh37]
Chr1:1q32.3
benign
NM_014053.4(FLVCR1):c.*339T>G single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV000396343] Chr1:212895629 [GRCh38]
Chr1:213068971 [GRCh37]
Chr1:1q32.3
benign
NM_014053.4(FLVCR1):c.*2908G>A single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV000396293] Chr1:212898198 [GRCh38]
Chr1:213071540 [GRCh37]
Chr1:1q32.3
benign
NM_014053.4(FLVCR1):c.*2061_*2062CA[12] microsatellite Posterior column ataxia-retinitis pigmentosa syndrome [RCV000262602] Chr1:212897349..212897350 [GRCh38]
Chr1:213070691..213070692 [GRCh37]
Chr1:1q32.3
conflicting interpretations of pathogenicity
NM_014053.4(FLVCR1):c.*2061_*2062CA[13] microsatellite Posterior column ataxia-retinitis pigmentosa syndrome [RCV000297866] Chr1:212897349..212897350 [GRCh38]
Chr1:213070691..213070692 [GRCh37]
Chr1:1q32.3
likely benign
NM_014053.4(FLVCR1):c.*3130_*3131insAATT insertion Posterior column ataxia-retinitis pigmentosa syndrome [RCV000303295] Chr1:212898419..212898420 [GRCh38]
Chr1:213071761..213071762 [GRCh37]
Chr1:1q32.3
benign
NM_014053.4(FLVCR1):c.*2061_*2062CA[11] microsatellite Posterior column ataxia-retinitis pigmentosa syndrome [RCV000351203] Chr1:212897349..212897350 [GRCh38]
Chr1:213070691..213070692 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.*2061_*2062CA[20] microsatellite Posterior column ataxia-retinitis pigmentosa syndrome [RCV000355025] Chr1:212897349..212897350 [GRCh38]
Chr1:213070691..213070692 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.1619_1631delinsGACCCAAAAAT (p.Gln540fs) indel not provided [RCV000352144] Chr1:212895241..212895253 [GRCh38]
Chr1:213068583..213068595 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.501G>A (p.Leu167=) single nucleotide variant not provided [RCV000320256] Chr1:212858953 [GRCh38]
Chr1:213032295 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.*3127_*3128insGATA insertion Posterior column ataxia-retinitis pigmentosa syndrome [RCV000396298] Chr1:212898416..212898417 [GRCh38]
Chr1:213071758..213071759 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.838G>A (p.Gly280Arg) single nucleotide variant not provided [RCV000489041] Chr1:212863824 [GRCh38]
Chr1:213037166 [GRCh37]
Chr1:1q32.3
likely pathogenic
NM_014053.4(FLVCR1):c.534G>C (p.Leu178=) single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV000314457] Chr1:212858986 [GRCh38]
Chr1:213032328 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.981C>T (p.Asn327=) single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV000361834] Chr1:212872775 [GRCh38]
Chr1:213046117 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.*2371A>G single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV000362383] Chr1:212897661 [GRCh38]
Chr1:213071003 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.611T>G (p.Met204Arg) single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV000398713] Chr1:212859063 [GRCh38]
Chr1:213032405 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.*2672_*2673del deletion Posterior column ataxia-retinitis pigmentosa syndrome [RCV000330910] Chr1:212897961..212897962 [GRCh38]
Chr1:213071303..213071304 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.-36G>A single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV000346208] Chr1:212858417 [GRCh38]
Chr1:213031759 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.51G>C (p.Pro17=) single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV000292411] Chr1:212858503 [GRCh38]
Chr1:213031845 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.*855del deletion Posterior column ataxia-retinitis pigmentosa syndrome [RCV000316127] Chr1:212896133 [GRCh38]
Chr1:213069475 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.*3598G>C single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV000316979] Chr1:212898888 [GRCh38]
Chr1:213072230 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.*2480T>G single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV000384185] Chr1:212897770 [GRCh38]
Chr1:213071112 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.*384T>C single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV000305291] Chr1:212895674 [GRCh38]
Chr1:213069016 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.*3228T>C single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV000305540] Chr1:212898518 [GRCh38]
Chr1:213071860 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.*8G>A single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV000295150] Chr1:212895298 [GRCh38]
Chr1:213068640 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.*855dup duplication Posterior column ataxia-retinitis pigmentosa syndrome [RCV000295996] Chr1:212896132..212896133 [GRCh38]
Chr1:213069474..213069475 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.*1174C>T single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV000307835] Chr1:212896464 [GRCh38]
Chr1:213069806 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.*839T>G single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV000387949] Chr1:212896129 [GRCh38]
Chr1:213069471 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.937G>A (p.Asp313Asn) single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV001098133]|not provided [RCV000518204] Chr1:212872731 [GRCh38]
Chr1:213046073 [GRCh37]
Chr1:1q32.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_014053.4(FLVCR1):c.847G>C (p.Ala283Pro) single nucleotide variant not provided [RCV000522232] Chr1:212863833 [GRCh38]
Chr1:213037175 [GRCh37]
Chr1:1q32.3
conflicting interpretations of pathogenicity|uncertain significance
NM_014053.4(FLVCR1):c.*1880_*1883TAAA[9] microsatellite Posterior column ataxia-retinitis pigmentosa syndrome [RCV000287156] Chr1:212897167..212897174 [GRCh38]
Chr1:213070509..213070516 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.3(FLVCR1):c.-181A>G single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV000286957] Chr1:212858272 [GRCh38]
Chr1:213031614 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.*2218C>T single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV000323930] Chr1:212897508 [GRCh38]
Chr1:213070850 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.3(FLVCR1):c.*4085_*4086delTT deletion Posterior column ataxia-retinitis pigmentosa syndrome [RCV000276963] Chr1:212899375..212899376 [GRCh38]
Chr1:213072717..213072718 [GRCh37]
Chr1:1q32.3
likely benign
NM_014053.4(FLVCR1):c.782C>T (p.Pro261Leu) single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV000358532] Chr1:212863768 [GRCh38]
Chr1:213037110 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.42C>T (p.Pro14=) single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV000396022] Chr1:212858494 [GRCh38]
Chr1:213031836 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.*923T>C single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV000377813] Chr1:212896213 [GRCh38]
Chr1:213069555 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.*1952C>A single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV000396752] Chr1:212897242 [GRCh38]
Chr1:213070584 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.*344T>C single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV000301769] Chr1:212895634 [GRCh38]
Chr1:213068976 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.7C>T (p.Arg3Trp) single nucleotide variant Inborn genetic diseases [RCV000622717]|Retinal dystrophy [RCV001075472]|not provided [RCV001207461] Chr1:212858459 [GRCh38]
Chr1:213031801 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.2T>C (p.Met1Thr) single nucleotide variant Inborn genetic diseases [RCV000623287] Chr1:212858454 [GRCh38]
Chr1:213031796 [GRCh37]
Chr1:1q32.3
pathogenic|likely pathogenic
NM_014053.4(FLVCR1):c.1394T>G (p.Leu465Arg) single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV001099907] Chr1:212888575 [GRCh38]
Chr1:213061917 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.*740T>G single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV001100006] Chr1:212896030 [GRCh38]
Chr1:213069372 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.1092+5G>A single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV000986509]|Retinal dystrophy [RCV001075766]|not provided [RCV000415829] Chr1:212883443 [GRCh38]
Chr1:213056785 [GRCh37]
Chr1:1q32.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3 copy number gain See cases [RCV000449172] Chr1:195483439..249213000 [GRCh37]
Chr1:1q31.3-44
pathogenic
NM_014053.4(FLVCR1):c.133G>A (p.Gly45Ser) single nucleotide variant Retinal dystrophy [RCV001074737]|not provided [RCV000440145] Chr1:212858585 [GRCh38]
Chr1:213031927 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.1093-1G>A single nucleotide variant not provided [RCV000434937] Chr1:212885292 [GRCh38]
Chr1:213058634 [GRCh37]
Chr1:1q32.3
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
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_014053.4(FLVCR1):c.1594-13_1594-10dup duplication Posterior column ataxia-retinitis pigmentosa syndrome [RCV000625307] Chr1:212895200..212895201 [GRCh38]
Chr1:213068542..213068543 [GRCh37]
Chr1:1q32.3
benign
NM_014053.4(FLVCR1):c.1307+19T>A single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV000610638] Chr1:212888020 [GRCh38]
Chr1:213061362 [GRCh37]
Chr1:1q32.3
benign
NM_014053.4(FLVCR1):c.3G>T (p.Met1Ile) single nucleotide variant Inborn genetic diseases [RCV000624418]|not provided [RCV001207460] Chr1:212858455 [GRCh38]
Chr1:213031797 [GRCh37]
Chr1:1q32.3
pathogenic|likely pathogenic|uncertain significance
GRCh37/hg19 1q32.3(chr1:213054159-213549122)x3 copy number gain not provided [RCV000684696] Chr1:213054159..213549122 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.-7C>T single nucleotide variant not provided [RCV000711703] Chr1:212858446 [GRCh38]
Chr1:213031788 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.819T>C (p.Asn273=) single nucleotide variant not provided [RCV000711704] Chr1:212863805 [GRCh38]
Chr1:213037147 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.785A>G (p.Asn262Ser) single nucleotide variant not provided [RCV000711701] Chr1:212863771 [GRCh38]
Chr1:213037113 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.987T>G (p.Phe329Leu) single nucleotide variant not provided [RCV000711705] Chr1:212872781 [GRCh38]
Chr1:213046123 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.1015A>T (p.Ile339Phe) single nucleotide variant not provided [RCV000711697] Chr1:212872809 [GRCh38]
Chr1:213046151 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.1624C>T (p.Pro542Ser) single nucleotide variant not provided [RCV000711698] Chr1:212895246 [GRCh38]
Chr1:213068588 [GRCh37]
Chr1:1q32.3
conflicting interpretations of pathogenicity|uncertain significance
NM_014053.4(FLVCR1):c.391A>G (p.Ile131Val) single nucleotide variant not provided [RCV000711699] Chr1:212858843 [GRCh38]
Chr1:213032185 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.488C>T (p.Pro163Leu) single nucleotide variant not provided [RCV000711700] Chr1:212858940 [GRCh38]
Chr1:213032282 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.799A>G (p.Thr267Ala) single nucleotide variant not provided [RCV000711702] Chr1:212863785 [GRCh38]
Chr1:213037127 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.87G>C (p.Ala29=) single nucleotide variant Jeune thoracic dystrophy [RCV000755162] Chr1:212858539 [GRCh38]
Chr1:213031881 [GRCh37]
Chr1:1q32.3
likely pathogenic
NM_014053.4(FLVCR1):c.785A>C (p.Asn262Thr) single nucleotide variant Short Rib Polydactyly Syndrome [RCV000755164] Chr1:212863771 [GRCh38]
Chr1:213037113 [GRCh37]
Chr1:1q32.3
likely pathogenic
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
GRCh37/hg19 1q32.3(chr1:212997385-213036987)x1 copy number loss not provided [RCV000736864] Chr1:212997385..213036987 [GRCh37]
Chr1:1q32.3
benign
GRCh37/hg19 1q32.3(chr1:213001082-213036987)x1 copy number loss not provided [RCV000736867] Chr1:213001082..213036987 [GRCh37]
Chr1:1q32.3
benign
GRCh37/hg19 1q32.3(chr1:213002088-213036987)x1 copy number loss not provided [RCV000736868] Chr1:213002088..213036987 [GRCh37]
Chr1:1q32.3
benign
GRCh37/hg19 1q25.3-41(chr1:185644663-221698833)x3 copy number gain not provided [RCV000749265] Chr1:185644663..221698833 [GRCh37]
Chr1:1q25.3-41
pathogenic
NM_014053.4(FLVCR1):c.216C>A (p.Ala72=) single nucleotide variant not provided [RCV000914162] Chr1:212858668 [GRCh38]
Chr1:213032010 [GRCh37]
Chr1:1q32.3
likely benign
NM_014053.4(FLVCR1):c.1169T>G (p.Leu390Ter) single nucleotide variant not provided [RCV000760817] Chr1:212885369 [GRCh38]
Chr1:213058711 [GRCh37]
Chr1:1q32.3
likely pathogenic
NM_014053.4(FLVCR1):c.971C>A (p.Ser324Ter) single nucleotide variant Retinitis pigmentosa [RCV001199817]|not provided [RCV000761696] Chr1:212872765 [GRCh38]
Chr1:213046107 [GRCh37]
Chr1:1q32.3
pathogenic|likely pathogenic
NM_014053.4(FLVCR1):c.742G>T (p.Gly248Ter) single nucleotide variant not provided [RCV000760774] Chr1:212863728 [GRCh38]
Chr1:213037070 [GRCh37]
Chr1:1q32.3
likely pathogenic
NM_014053.4(FLVCR1):c.1626A>G (p.Pro542=) single nucleotide variant not provided [RCV000975405] Chr1:212895248 [GRCh38]
Chr1:213068590 [GRCh37]
Chr1:1q32.3
likely benign
NM_014053.4(FLVCR1):c.294G>T (p.Leu98=) single nucleotide variant not provided [RCV000926021] Chr1:212858746 [GRCh38]
Chr1:213032088 [GRCh37]
Chr1:1q32.3
likely benign
NM_014053.4(FLVCR1):c.525C>T (p.Leu175=) single nucleotide variant not provided [RCV000899987] Chr1:212858977 [GRCh38]
Chr1:213032319 [GRCh37]
Chr1:1q32.3
likely benign
NM_014053.4(FLVCR1):c.26G>A (p.Gly9Glu) single nucleotide variant not provided [RCV001055438] Chr1:212858478 [GRCh38]
Chr1:213031820 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.554G>C (p.Cys185Ser) single nucleotide variant Retinal dystrophy [RCV001075851]|not provided [RCV001303824] Chr1:212859006 [GRCh38]
Chr1:213032348 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.563C>T (p.Ala188Val) single nucleotide variant not provided [RCV001046760] Chr1:212859015 [GRCh38]
Chr1:213032357 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.25G>A (p.Gly9Arg) single nucleotide variant Retinal dystrophy [RCV001073652] Chr1:212858477 [GRCh38]
Chr1:213031819 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.1409C>T (p.Ala470Val) single nucleotide variant not provided [RCV001051104] Chr1:212888590 [GRCh38]
Chr1:213061932 [GRCh37]
Chr1:1q32.3
uncertain significance
NC_000001.11:g.(?_212782372)_(212951818_?)del deletion not provided [RCV001032942] Chr1:212955714..213125160 [GRCh37]
Chr1:1q32.3
pathogenic
NM_014053.4(FLVCR1):c.690G>A (p.Gly230=) single nucleotide variant not provided [RCV000977271] Chr1:212859142 [GRCh38]
Chr1:213032484 [GRCh37]
Chr1:1q32.3
likely benign
NM_014053.4(FLVCR1):c.768A>G (p.Pro256=) single nucleotide variant not provided [RCV000925809] Chr1:212863754 [GRCh38]
Chr1:213037096 [GRCh37]
Chr1:1q32.3
likely benign
NM_014053.4(FLVCR1):c.1557_1561del (p.Asn519fs) deletion Stargardt disease [RCV000787835] Chr1:212895015..212895019 [GRCh38]
Chr1:213068357..213068361 [GRCh37]
Chr1:1q32.3
likely pathogenic
NM_014053.4(FLVCR1):c.1561_1564del (p.Ile520_Asn521insTer) deletion not provided [RCV000992004] Chr1:212895018..212895021 [GRCh38]
Chr1:213068360..213068363 [GRCh37]
Chr1:1q32.3
likely pathogenic
NM_014053.4(FLVCR1):c.*2591G>C single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV001096699] Chr1:212897881 [GRCh38]
Chr1:213071223 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.*2860C>A single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV001098432] Chr1:212898150 [GRCh38]
Chr1:213071492 [GRCh37]
Chr1:1q32.3
likely benign
NM_014053.4(FLVCR1):c.*1543C>G single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV001096592] Chr1:212896833 [GRCh38]
Chr1:213070175 [GRCh37]
Chr1:1q32.3
uncertain significance
GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3 copy number gain not provided [RCV000845852] Chr1:182388773..249111240 [GRCh37]
Chr1:1q25.3-44
pathogenic
NM_014053.4(FLVCR1):c.779T>C (p.Val260Ala) single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV001098129] Chr1:212863765 [GRCh38]
Chr1:213037107 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.832T>C (p.Phe278Leu) single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV001098130]|not provided [RCV001299156] Chr1:212863818 [GRCh38]
Chr1:213037160 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.270C>A (p.Thr90=) single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV001096384] Chr1:212858722 [GRCh38]
Chr1:213032064 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.*665C>T single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV001098234] Chr1:212895955 [GRCh38]
Chr1:213069297 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.*1246T>C single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV001096590] Chr1:212896536 [GRCh38]
Chr1:213069878 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.*1454G>A single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV001096591] Chr1:212896744 [GRCh38]
Chr1:213070086 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.*3337G>C single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV001100202] Chr1:212898627 [GRCh38]
Chr1:213071969 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.71C>T (p.Pro24Leu) single nucleotide variant not provided [RCV000992009] Chr1:212858523 [GRCh38]
Chr1:213031865 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.1552_1553CA[1] (p.His518fs) microsatellite not provided [RCV000992003] Chr1:212895011..212895012 [GRCh38]
Chr1:213068353..213068354 [GRCh37]
Chr1:1q32.3
likely pathogenic
NM_014053.4(FLVCR1):c.1642del (p.Ser548fs) deletion not provided [RCV000992007] Chr1:212895264 [GRCh38]
Chr1:213068606 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.49C>G (p.Pro17Ala) single nucleotide variant not provided [RCV000992008] Chr1:212858501 [GRCh38]
Chr1:213031843 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.1271A>G (p.Tyr424Cys) single nucleotide variant not provided [RCV001211406] Chr1:212887965 [GRCh38]
Chr1:213061307 [GRCh37]
Chr1:1q32.3
uncertain significance
GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3 copy number gain See cases [RCV001194578] Chr1:210152794..249218992 [GRCh37]
Chr1:1q32.2-44
pathogenic
GRCh37/hg19 1q32.1-32.3(chr1:206329070-213263817)x3 copy number gain not provided [RCV000848713] Chr1:206329070..213263817 [GRCh37]
Chr1:1q32.1-32.3
uncertain significance
NM_014053.4(FLVCR1):c.1318_1321del (p.Thr440fs) deletion Retinitis pigmentosa [RCV001199816]|not provided [RCV000994240] Chr1:212888497..212888500 [GRCh38]
Chr1:213061839..213061842 [GRCh37]
Chr1:1q32.3
pathogenic|likely pathogenic
NM_014053.4(FLVCR1):c.692C>A (p.Pro231His) single nucleotide variant not provided [RCV001212200] Chr1:212859144 [GRCh38]
Chr1:213032486 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.1093G>A (p.Gly365Arg) single nucleotide variant not provided [RCV001201553] Chr1:212885293 [GRCh38]
Chr1:213058635 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.944C>G (p.Pro315Arg) single nucleotide variant not provided [RCV001207807] Chr1:212872738 [GRCh38]
Chr1:213046080 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.1282G>A (p.Val428Met) single nucleotide variant not provided [RCV001202098] Chr1:212887976 [GRCh38]
Chr1:213061318 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.398A>C (p.Asn133Thr) single nucleotide variant not provided [RCV001205633] Chr1:212858850 [GRCh38]
Chr1:213032192 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.1413+82TTG[6] microsatellite Posterior column ataxia-retinitis pigmentosa syndrome [RCV000986510] Chr1:212888675..212888676 [GRCh38]
Chr1:213062017..213062018 [GRCh37]
Chr1:1q32.3
benign
NM_014053.4(FLVCR1):c.30G>A (p.Ala10=) single nucleotide variant not provided [RCV000994238] Chr1:212858482 [GRCh38]
Chr1:213031824 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.82G>A (p.Gly28Ser) single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV001096382] Chr1:212858534 [GRCh38]
Chr1:213031876 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.*326T>C single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV001096482] Chr1:212895616 [GRCh38]
Chr1:213068958 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.*2704T>G single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV001096700] Chr1:212897994 [GRCh38]
Chr1:213071336 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.*114C>T single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV001101916] Chr1:212895404 [GRCh38]
Chr1:213068746 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.*1021A>G single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV001101995] Chr1:212896311 [GRCh38]
Chr1:213069653 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.835T>A (p.Tyr279Asn) single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV001098131] Chr1:212863821 [GRCh38]
Chr1:213037163 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.*1738G>A single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV001098323] Chr1:212897028 [GRCh38]
Chr1:213070370 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.303G>C (p.Thr101=) single nucleotide variant not provided [RCV000933526] Chr1:212858755 [GRCh38]
Chr1:213032097 [GRCh37]
Chr1:1q32.3
likely benign
NM_014053.4(FLVCR1):c.908C>T (p.Pro303Leu) single nucleotide variant not provided [RCV001244538] Chr1:212872702 [GRCh38]
Chr1:213046044 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.991A>C (p.Asn331His) single nucleotide variant not provided [RCV001055604] Chr1:212872785 [GRCh38]
Chr1:213046127 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.1097AAG[1] (p.Glu367del) microsatellite not provided [RCV001243687] Chr1:212885295..212885297 [GRCh38]
Chr1:213058637..213058639 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.*847T>C single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV001100008] Chr1:212896137 [GRCh38]
Chr1:213069479 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.*1920T>A single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV001100111] Chr1:212897210 [GRCh38]
Chr1:213070552 [GRCh37]
Chr1:1q32.3
benign
NM_014053.4(FLVCR1):c.755del (p.Gly252fs) deletion Posterior column ataxia-retinitis pigmentosa syndrome [RCV001095734]|not provided [RCV001093109] Chr1:212863740 [GRCh38]
Chr1:213037082 [GRCh37]
Chr1:1q32.3
pathogenic|likely pathogenic
NM_014053.4(FLVCR1):c.1019C>T (p.Thr340Ile) single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV001095735] Chr1:212872813 [GRCh38]
Chr1:213046155 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.*2495C>T single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV001096697] Chr1:212897785 [GRCh38]
Chr1:213071127 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.*2540T>C single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV001096698] Chr1:212897830 [GRCh38]
Chr1:213071172 [GRCh37]
Chr1:1q32.3
benign
NM_014053.4(FLVCR1):c.69C>T (p.Leu23=) single nucleotide variant not provided [RCV000911266] Chr1:212858521 [GRCh38]
Chr1:213031863 [GRCh37]
Chr1:1q32.3
likely benign
NM_014053.4(FLVCR1):c.996T>C (p.Ile332=) single nucleotide variant not provided [RCV000933814] Chr1:212872790 [GRCh38]
Chr1:213046132 [GRCh37]
Chr1:1q32.3
likely benign
NM_014053.4(FLVCR1):c.1235G>C (p.Gly412Ala) single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV001170035]|not provided [RCV000994239] Chr1:212887929 [GRCh38]
Chr1:213061271 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.*1549A>G single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV001098322] Chr1:212896839 [GRCh38]
Chr1:213070181 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.*785C>T single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV001100007] Chr1:212896075 [GRCh38]
Chr1:213069417 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.*1954A>G single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV001100112] Chr1:212897244 [GRCh38]
Chr1:213070586 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.-154G>T single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV001101803] Chr1:212858299 [GRCh38]
Chr1:213031641 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.*123T>C single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV001101917] Chr1:212895413 [GRCh38]
Chr1:213068755 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.-104G>A single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV001101804] Chr1:212858349 [GRCh38]
Chr1:213031691 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.*2409C>T single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV001102106] Chr1:212897699 [GRCh38]
Chr1:213071041 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.254G>C (p.Gly85Ala) single nucleotide variant not provided [RCV001043475] Chr1:212858706 [GRCh38]
Chr1:213032048 [GRCh37]
Chr1:1q32.3
uncertain significance
GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3 copy number gain See cases [RCV001007407] Chr1:204045948..249218992 [GRCh37]
Chr1:1q32.1-44
pathogenic
NC_000001.11:g.(?_212894986)_(212895290_?)dup duplication not provided [RCV001031754] Chr1:213068328..213068632 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.40C>T (p.Pro14Ser) single nucleotide variant not provided [RCV001036907] Chr1:212858492 [GRCh38]
Chr1:213031834 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.*1548T>C single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV001096593] Chr1:212896838 [GRCh38]
Chr1:213070180 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.704C>A (p.Ser235Tyr) single nucleotide variant Retinal dystrophy [RCV001075362] Chr1:212859156 [GRCh38]
Chr1:213032498 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.886T>G (p.Phe296Val) single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV001098132] Chr1:212872680 [GRCh38]
Chr1:213046022 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.*3032G>T single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV001098434] Chr1:212898322 [GRCh38]
Chr1:213071664 [GRCh37]
Chr1:1q32.3
benign
NM_014053.4(FLVCR1):c.1503G>A (p.Met501Ile) single nucleotide variant not provided [RCV001060211] Chr1:212889235 [GRCh38]
Chr1:213062577 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.1572dup (p.Thr525fs) duplication not provided [RCV001204894] Chr1:212895030..212895031 [GRCh38]
Chr1:213068372..213068373 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.169C>G (p.Leu57Val) single nucleotide variant not provided [RCV001234443] Chr1:212858621 [GRCh38]
Chr1:213031963 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.877G>A (p.Ala293Thr) single nucleotide variant not provided [RCV001215200] Chr1:212863863 [GRCh38]
Chr1:213037205 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.202C>G (p.Gln68Glu) single nucleotide variant not provided [RCV001070696] Chr1:212858654 [GRCh38]
Chr1:213031996 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.-168C>G single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV001101801] Chr1:212858285 [GRCh38]
Chr1:213031627 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.476C>G (p.Pro159Arg) single nucleotide variant not provided [RCV001207223] Chr1:212858928 [GRCh38]
Chr1:213032270 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.307C>T (p.Leu103Phe) single nucleotide variant not provided [RCV001051913] Chr1:212858759 [GRCh38]
Chr1:213032101 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.-166G>C single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV001101802] Chr1:212858287 [GRCh38]
Chr1:213031629 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.1482C>A (p.Asn494Lys) single nucleotide variant not provided [RCV001056889] Chr1:212889214 [GRCh38]
Chr1:213062556 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.*422G>A single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV001098232] Chr1:212895712 [GRCh38]
Chr1:213069054 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.*500G>A single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV001098233] Chr1:212895790 [GRCh38]
Chr1:213069132 [GRCh37]
Chr1:1q32.3
benign
NM_014053.4(FLVCR1):c.*2954T>C single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV001098433] Chr1:212898244 [GRCh38]
Chr1:213071586 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.1593+5_1593+8del microsatellite not provided [RCV001063585] Chr1:212895054..212895057 [GRCh38]
Chr1:213068396..213068399 [GRCh37]
Chr1:1q32.3
likely pathogenic
NM_014053.4(FLVCR1):c.1413G>A (p.Gln471=) single nucleotide variant Retinal dystrophy [RCV001074099] Chr1:212888594 [GRCh38]
Chr1:213061936 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.241C>T (p.Leu81=) single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV001096383] Chr1:212858693 [GRCh38]
Chr1:213032035 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.539del (p.Gly180fs) deletion Retinal dystrophy [RCV001075767] Chr1:212858989 [GRCh38]
Chr1:213032331 [GRCh37]
Chr1:1q32.3
likely pathogenic
NC_000001.11:g.(?_212858453)_(212997318_?)dup duplication not provided [RCV001032259] Chr1:213031795..213170660 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.1525+13G>A single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV001101915] Chr1:212889270 [GRCh38]
Chr1:213062612 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.*3756C>T single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV001102190] Chr1:212899046 [GRCh38]
Chr1:213072388 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.1559T>C (p.Ile520Thr) single nucleotide variant not provided [RCV001348523] Chr1:212895019 [GRCh38]
Chr1:213068361 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.730G>A (p.Gly244Ser) single nucleotide variant Retinitis pigmentosa [RCV001261546] Chr1:212859182 [GRCh38]
Chr1:213032524 [GRCh37]
Chr1:1q32.3
likely pathogenic
NM_014053.4(FLVCR1):c.1317G>A (p.Met439Ile) single nucleotide variant not provided [RCV001268665] Chr1:212888498 [GRCh38]
Chr1:213061840 [GRCh37]
Chr1:1q32.3
likely pathogenic
NM_014053.4(FLVCR1):c.1406C>G (p.Ser469Cys) single nucleotide variant not provided [RCV001288603] Chr1:212888587 [GRCh38]
Chr1:213061929 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.143C>T (p.Pro48Leu) single nucleotide variant not provided [RCV001288604] Chr1:212858595 [GRCh38]
Chr1:213031937 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.974T>G (p.Ile325Arg) single nucleotide variant not provided [RCV001307440] Chr1:212872768 [GRCh38]
Chr1:213046110 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.346C>T (p.Leu116=) single nucleotide variant not provided [RCV001288606] Chr1:212858798 [GRCh38]
Chr1:213032140 [GRCh37]
Chr1:1q32.3
uncertain significance
NC_000001.10:g.(?_213068328)_(213068632_?)dup duplication not provided [RCV001314624] Chr1:213068328..213068632 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.362A>G (p.Asn121Ser) single nucleotide variant not provided [RCV001301479] Chr1:212858814 [GRCh38]
Chr1:213032156 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.820A>G (p.Ile274Val) single nucleotide variant not provided [RCV001315454] Chr1:212863806 [GRCh38]
Chr1:213037148 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.593A>G (p.His198Arg) single nucleotide variant not provided [RCV001343426] Chr1:212859045 [GRCh38]
Chr1:213032387 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.1200G>T (p.Gln400His) single nucleotide variant not provided [RCV001303673] Chr1:212887894 [GRCh38]
Chr1:213061236 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.178_179delinsAT (p.Ala60Ile) indel not provided [RCV001321735] Chr1:212858630..212858631 [GRCh38]
Chr1:213031972..213031973 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.1022A>G (p.Tyr341Cys) single nucleotide variant not provided [RCV001288601] Chr1:212872816 [GRCh38]
Chr1:213046158 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.1096G>C (p.Glu366Gln) single nucleotide variant not provided [RCV001315077] Chr1:212885296 [GRCh38]
Chr1:213058638 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.1074G>T (p.Met358Ile) single nucleotide variant not provided [RCV001323773] Chr1:212883420 [GRCh38]
Chr1:213056762 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.112C>G (p.Leu38Val) single nucleotide variant not provided [RCV001300007] Chr1:212858564 [GRCh38]
Chr1:213031906 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.1516A>T (p.Ile506Leu) single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV001333005] Chr1:212889248 [GRCh38]
Chr1:213062590 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.369T>A (p.Phe123Leu) single nucleotide variant not provided [RCV001295944] Chr1:212858821 [GRCh38]
Chr1:213032163 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.18T>A (p.Asp6Glu) single nucleotide variant not provided [RCV001288605] Chr1:212858470 [GRCh38]
Chr1:213031812 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.178G>T (p.Ala60Ser) single nucleotide variant not provided [RCV001303628] Chr1:212858630 [GRCh38]
Chr1:213031972 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.1567G>A (p.Gly523Arg) single nucleotide variant not provided [RCV001320497] Chr1:212895027 [GRCh38]
Chr1:213068369 [GRCh37]
Chr1:1q32.3
uncertain significance
NC_000001.10:g.(?_213031795)_(213170660_?)dup duplication not provided [RCV001300826] Chr1:213031795..213170660 [GRCh37]
Chr1:1q32.3
uncertain significance
NM_014053.4(FLVCR1):c.663C>T (p.Pro221=) single nucleotide variant not provided [RCV001288607] Chr1:212859115 [GRCh38]
Chr1:213032457 [GRCh37]
Chr1:1q32.3
likely benign
NM_014053.4(FLVCR1):c.1424T>C (p.Ile475Thr) single nucleotide variant not provided [RCV001326993] Chr1:212889156 [GRCh38]
Chr1:213062498 [GRCh37]
Chr1:1q32.3
uncertain significance
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44
uncertain significance
NM_014053.4(FLVCR1):c.236C>T (p.Ala79Val) single nucleotide variant Posterior column ataxia-retinitis pigmentosa syndrome [RCV001335616] Chr1:212858688 [GRCh38]
Chr1:213032030 [GRCh37]
Chr1:1q32.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:24682 AgrOrtholog
COSMIC FLVCR1 COSMIC
Ensembl Genes ENSG00000162769 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000355938 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000414680 UniProtKB/TrEMBL
Ensembl Transcript ENST00000366971 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000419102 UniProtKB/TrEMBL
GTEx ENSG00000162769 GTEx
HGNC ID HGNC:24682 ENTREZGENE
Human Proteome Map FLVCR1 Human Proteome Map
InterPro MFS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MFS_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MFS_trans_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:28982 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 28982 ENTREZGENE
OMIM 609033 OMIM
  609144 OMIM
Pfam MFS_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162388695 PharmGKB
PROSITE MFS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF103473 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B2RB38 ENTREZGENE, UniProtKB/TrEMBL
  FLVC1_HUMAN UniProtKB/Swiss-Prot
  H7C3Z2_HUMAN UniProtKB/TrEMBL
  Q9Y5Y0 ENTREZGENE
UniProt Secondary Q1HE16 UniProtKB/Swiss-Prot
  Q86XY9 UniProtKB/Swiss-Prot
  Q9NVR9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-10-08 FLVCR1  FLVCR heme transporter 1  FLVCR1  feline leukemia virus subgroup C cellular receptor 1  Symbol and/or name change 5135510 APPROVED
2016-04-05 FLVCR1  feline leukemia virus subgroup C cellular receptor 1  AXPC1  ataxia, posterior column 1, with retinitis pigmentosa  Data Merged 737654 PROVISIONAL
2011-07-27 FLVCR1  feline leukemia virus subgroup C cellular receptor 1  FLVCR1  feline leukemia virus subgroup C cellular receptor 1  Symbol and/or name change 5135510 APPROVED