FREM1 (FRAS1 related extracellular matrix 1) - Rat Genome Database

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Gene: FREM1 (FRAS1 related extracellular matrix 1) Homo sapiens
Analyze
Symbol: FREM1
Name: FRAS1 related extracellular matrix 1
RGD ID: 1345384
HGNC Page HGNC
Description: Predicted to enable carbohydrate binding activity and metal ion binding activity. Involved in craniofacial suture morphogenesis. Predicted to be located in basement membrane and extracellular region. Predicted to be integral component of membrane. Implicated in congenital diaphragmatic hernia.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: BNAR; C9orf143; C9orf145; C9orf154; extracellular matrix protein QBRICK; FLJ25461; FRAS1-related extracellular matrix protein 1; MOTA; QBRICK; RP11-439N12.3; TILRR; TRIGNO2
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 Ensembl914,737,152 - 14,910,995 (-)EnsemblGRCh38hg38GRCh38
GRCh38914,734,666 - 14,911,653 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37914,737,150 - 14,910,993 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36914,727,150 - 14,900,234 (-)NCBINCBI36hg18NCBI36
Build 34914,727,154 - 14,900,993NCBI
Celera914,668,102 - 14,844,502 (-)NCBI
Cytogenetic Map9p22.3NCBI
HuRef914,697,961 - 14,874,294 (-)NCBIHuRef
CHM1_1914,734,708 - 14,910,773 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:8889548   PMID:12477932   PMID:12838346   PMID:14702039   PMID:15146197   PMID:15164053   PMID:15345741   PMID:15489334   PMID:15878328   PMID:19490893   PMID:19732862   PMID:19893584  
PMID:19940113   PMID:20301721   PMID:20379614   PMID:20562859   PMID:22262840   PMID:22690109   PMID:22876578   PMID:22915813   PMID:23401257   PMID:24700879   PMID:28005267   PMID:28111185  
PMID:28441456   PMID:29688405   PMID:30873160   PMID:32926405   PMID:33058542  


Genomics

Comparative Map Data
FREM1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl914,737,152 - 14,910,995 (-)EnsemblGRCh38hg38GRCh38
GRCh38914,734,666 - 14,911,653 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37914,737,150 - 14,910,993 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36914,727,150 - 14,900,234 (-)NCBINCBI36hg18NCBI36
Build 34914,727,154 - 14,900,993NCBI
Celera914,668,102 - 14,844,502 (-)NCBI
Cytogenetic Map9p22.3NCBI
HuRef914,697,961 - 14,874,294 (-)NCBIHuRef
CHM1_1914,734,708 - 14,910,773 (-)NCBICHM1_1
Frem1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39482,816,157 - 82,970,743 (-)NCBIGRCm39mm39
GRCm39 Ensembl482,816,157 - 82,970,576 (-)Ensembl
GRCm38482,897,920 - 83,052,506 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl482,897,920 - 83,052,339 (-)EnsemblGRCm38mm10GRCm38
MGSCv37482,543,831 - 82,667,006 (-)NCBIGRCm37mm9NCBIm37
MGSCv36482,369,158 - 82,492,333 (-)NCBImm8
Celera481,433,285 - 81,556,740 (-)NCBICelera
Cytogenetic Map4C3NCBI
Frem1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2597,321,275 - 97,469,523 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl597,322,538 - 97,469,543 (-)Ensembl
Rnor_6.05101,018,009 - 101,166,794 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl5101,020,448 - 101,166,651 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.05105,039,872 - 105,188,547 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.45101,773,603 - 101,891,178 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.15101,778,828 - 102,082,081 (-)NCBI
Celera595,876,081 - 95,993,467 (-)NCBICelera
Cytogenetic Map5q31NCBI
Frem1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543417,753,925 - 17,901,407 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495543417,754,002 - 17,901,416 (-)NCBIChiLan1.0ChiLan1.0
FREM1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1915,081,208 - 15,254,581 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl915,081,208 - 15,253,399 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0914,567,781 - 14,748,474 (-)NCBIMhudiblu_PPA_v0panPan3
FREM1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11135,174,390 - 35,338,983 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1135,176,934 - 35,310,335 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1133,817,394 - 33,982,281 (-)NCBI
ROS_Cfam_1.01136,078,485 - 36,243,845 (-)NCBI
UMICH_Zoey_3.11134,782,597 - 34,947,751 (-)NCBI
UNSW_CanFamBas_1.01134,574,867 - 34,739,782 (-)NCBI
UU_Cfam_GSD_1.01135,231,916 - 35,396,660 (-)NCBI
Frem1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947149,898,217 - 150,055,395 (-)NCBI
SpeTri2.0NW_0049365398,338,624 - 8,508,031 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FREM1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1207,640,839 - 207,801,952 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11207,535,811 - 207,804,525 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21231,366,665 - 231,496,855 (+)NCBISscrofa10.2Sscrofa10.2susScr3
FREM1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11264,681,181 - 64,849,266 (+)NCBIChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366603852,885,675 - 53,067,141 (+)NCBIVero_WHO_p1.0
Frem1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473618,975,104 - 19,346,159 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
D9S235  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37914,807,518 - 14,807,725UniSTSGRCh37
Build 36914,797,518 - 14,797,725RGDNCBI36
Celera914,740,995 - 14,741,200RGD
Cytogenetic Map9p22.3UniSTS
HuRef914,770,779 - 14,770,984UniSTS
Marshfield Genetic Map927.32UniSTS
Marshfield Genetic Map927.32RGD
TNG Radiation Hybrid Map96785.0UniSTS
deCODE Assembly Map931.4UniSTS
SHGC-81109  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37914,844,771 - 14,844,961UniSTSGRCh37
Build 36914,834,771 - 14,834,961RGDNCBI36
Celera914,778,266 - 14,778,456RGD
Cytogenetic Map9p22.3UniSTS
HuRef914,808,044 - 14,808,234UniSTS
SHGC-82406  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37914,771,317 - 14,771,588UniSTSGRCh37
Build 36914,761,317 - 14,761,588RGDNCBI36
Celera914,704,778 - 14,705,049RGD
Cytogenetic Map9p22.3UniSTS
HuRef914,734,563 - 14,734,834UniSTS
TNG Radiation Hybrid Map96810.0UniSTS
SHGC-84099  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37914,741,568 - 14,741,734UniSTSGRCh37
Build 36914,731,568 - 14,731,734RGDNCBI36
Celera914,675,008 - 14,675,174RGD
Cytogenetic Map9p22.3UniSTS
HuRef914,704,864 - 14,705,030UniSTS
TNG Radiation Hybrid Map96825.0UniSTS
G59628  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37914,889,630 - 14,889,841UniSTSGRCh37
Build 36914,879,630 - 14,879,841RGDNCBI36
Celera914,823,139 - 14,823,350RGD
Cytogenetic Map9p22.3UniSTS
HuRef914,852,932 - 14,853,143UniSTS
G60064  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37914,761,129 - 14,761,342UniSTSGRCh37
Build 36914,751,129 - 14,751,342RGDNCBI36
Celera914,694,591 - 14,694,804RGD
Cytogenetic Map9p22.3UniSTS
HuRef914,724,375 - 14,724,588UniSTS
TNG Radiation Hybrid Map96819.0UniSTS
RH46442  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37914,734,731 - 14,734,903UniSTSGRCh37
Build 36914,724,731 - 14,724,903RGDNCBI36
Celera914,668,169 - 14,668,341RGD
Cytogenetic Map9p22.3UniSTS
HuRef914,698,028 - 14,698,200UniSTS
GeneMap99-GB4 RH Map955.57UniSTS
NCBI RH Map9175.7UniSTS
RH47057  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37914,761,196 - 14,761,321UniSTSGRCh37
Build 36914,751,196 - 14,751,321RGDNCBI36
Celera914,694,658 - 14,694,783RGD
Cytogenetic Map9p22.3UniSTS
HuRef914,724,442 - 14,724,567UniSTS
GeneMap99-GB4 RH Map955.57UniSTS
NCBI RH Map9189.6UniSTS
G29230  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37914,737,235 - 14,737,374UniSTSGRCh37
Build 36914,727,235 - 14,727,374RGDNCBI36
Celera914,670,673 - 14,670,812RGD
Cytogenetic Map9p22.3UniSTS
HuRef914,700,533 - 14,700,672UniSTS
RH35821  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37914,762,879 - 14,763,033UniSTSGRCh37
Build 36914,752,879 - 14,753,033RGDNCBI36
Celera914,696,342 - 14,696,496RGD
Cytogenetic Map9p22.3UniSTS
HuRef914,726,127 - 14,726,281UniSTS
GeneMap99-GB4 RH Map955.57UniSTS
NCBI RH Map9189.6UniSTS
STS-R98799  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37914,844,971 - 14,845,093UniSTSGRCh37
Build 36914,834,971 - 14,835,093RGDNCBI36
Celera914,778,466 - 14,778,588RGD
Cytogenetic Map9p22.3UniSTS
HuRef914,808,244 - 14,808,366UniSTS
GeneMap99-GB4 RH Map957.25UniSTS
NCBI RH Map9203.8UniSTS
STS-W94882  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37914,737,257 - 14,737,472UniSTSGRCh37
Build 36914,727,257 - 14,727,472RGDNCBI36
Celera914,670,695 - 14,670,910RGD
Cytogenetic Map9p22.3UniSTS
HuRef914,700,555 - 14,700,770UniSTS
GeneMap99-GB4 RH Map955.57UniSTS
NCBI RH Map9209.7UniSTS
D11S3114  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map15q11.2-q21.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map7q21.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map12p12.2-p11.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map10q11.1-q24UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic MapXq13.1-q21.1UniSTS
Cytogenetic Map20pter-q12UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map1q41-q42.2UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map9p23UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2q37.2UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map1q31-q32UniSTS
Cytogenetic Map6q24.1UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map17q24-q25UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic MapXq21UniSTS
Cytogenetic Map6p12UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic Map19qUniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map22q12.3-q13.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map1q24.2UniSTS
Cytogenetic Map2q34UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map4p12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map19q11UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map1p32.2-p32.1UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map4q13.2UniSTS
Cytogenetic Map4q31.23UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map14q24.2UniSTS
D1S1423  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.1-p11.2UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map6p22.3-p21.32UniSTS
Cytogenetic Map6q22.33UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map7q11.2UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map9q12UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map18q22.1UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map10p14-p13UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map11q23-q24UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map22cen-q12.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map15q11.2-q21.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map4q28UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map1q41-q42UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map12p13.1-p12.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map11q24.1UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map3q13UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map12q24.2UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q26UniSTS
Cytogenetic Map9p21.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic MapXq27.2UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map4q31UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q24.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map20q11.21-q11.23UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map14q32.1UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map4q31.23UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2p22.3UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map13q33.3UniSTS
Cytogenetic Map15q22-q24UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map4p15.31UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map15q22.1-q22.31UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map4q24UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map3p21.1-p14.2UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map6q24.2UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map10pter-q25.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map16p13UniSTS
Cytogenetic Map15q26UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map4p15.1-p14UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q33.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map7q32.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map9p13UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map3q21-q24UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map1q31UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map8q24.12UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map6q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map20pter-p12UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map14q22.2UniSTS
Cytogenetic Map20p11.22-p11.1UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map6p22-p21UniSTS
Cytogenetic Map17q21.1-q21.3UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12p13.2-p12.3UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map5q22.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map4p15.3UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map10q22.3-q23.2UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map3q12.1UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map2p13.2UniSTS
Cytogenetic Map3p12.3UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map3q11.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map6p24.2UniSTS
Cytogenetic Map20q13.33UniSTS
G54719  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37914,889,620 - 14,890,018UniSTSGRCh37
Celera914,823,129 - 14,823,527UniSTS
Cytogenetic Map9p22.3UniSTS
HuRef914,852,922 - 14,853,320UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4024
Count of miRNA genes:1121
Interacting mature miRNAs:1365
Transcripts:ENST00000380875, ENST00000380880, ENST00000380881, ENST00000380894, ENST00000422223, ENST00000427623, ENST00000466679, ENST00000485068, ENST00000486223, ENST00000497634
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 adipose tissue appendage entire extraembryonic component
High
Medium 124 418 7 6 14 6 243 22 274 62 126 13 3 215
Low 1717 1579 1035 199 323 87 3240 1109 2360 250 1092 1146 113 1148 1834 4
Below cutoff 515 857 600 362 1090 312 856 1049 1051 53 156 307 51 53 739

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_017005 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001177704 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001370058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001370060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001370061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001370063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001370065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001379081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_144966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_163238 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_163239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_163240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_163241 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_163242 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005251384 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006716729 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517758 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014316 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014317 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014319 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014320 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014321 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014322 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014325 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014326 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014327 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014328 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001746194 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001746195 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001746196 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001746197 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB160987 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK054690 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK058190 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL354672 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL390732 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL512643 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC031064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU677942 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX537574 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX641104 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN425447 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DN992860 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000380875   ⟹   ENSP00000370257
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl914,737,200 - 14,910,995 (-)Ensembl
RefSeq Acc Id: ENST00000380880   ⟹   ENSP00000370262
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl914,737,152 - 14,910,428 (-)Ensembl
RefSeq Acc Id: ENST00000380894   ⟹   ENSP00000370278
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl914,737,152 - 14,779,533 (-)Ensembl
RefSeq Acc Id: ENST00000422223   ⟹   ENSP00000412940
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl914,734,666 - 14,910,995 (-)Ensembl
RefSeq Acc Id: ENST00000427623   ⟹   ENSP00000412597
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl914,737,366 - 14,774,161 (-)Ensembl
RefSeq Acc Id: ENST00000466679
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl914,775,935 - 14,792,801 (-)Ensembl
RefSeq Acc Id: ENST00000485068
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl914,775,823 - 14,784,634 (-)Ensembl
RefSeq Acc Id: ENST00000486223
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl914,751,705 - 14,775,905 (-)Ensembl
RefSeq Acc Id: ENST00000497634
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl914,784,272 - 14,792,884 (-)Ensembl
RefSeq Acc Id: NM_001177704   ⟹   NP_001171175
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38914,737,152 - 14,780,431 (-)NCBI
GRCh37914,734,664 - 14,910,993 (-)RGD
GRCh37914,734,664 - 14,910,993 (-)NCBI
Celera914,668,102 - 14,844,502 (-)RGD
HuRef914,697,961 - 14,874,294 (-)ENTREZGENE
CHM1_1914,734,708 - 14,779,530 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001370058   ⟹   NP_001356987
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38914,737,152 - 14,780,431 (-)NCBI
RefSeq Acc Id: NM_001370060   ⟹   NP_001356989
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38914,847,685 - 14,910,428 (-)NCBI
RefSeq Acc Id: NM_001370061   ⟹   NP_001356990
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38914,737,152 - 14,780,431 (-)NCBI
RefSeq Acc Id: NM_001370063   ⟹   NP_001356992
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38914,847,685 - 14,910,428 (-)NCBI
RefSeq Acc Id: NM_001370065   ⟹   NP_001356994
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38914,847,685 - 14,910,428 (-)NCBI
RefSeq Acc Id: NM_001379081   ⟹   NP_001366010
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38914,737,152 - 14,910,428 (-)NCBI
RefSeq Acc Id: NM_144966   ⟹   NP_659403
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38914,737,152 - 14,910,995 (-)NCBI
GRCh37914,734,664 - 14,910,993 (-)NCBI
Build 36914,727,150 - 14,900,234 (-)NCBI Archive
Celera914,668,102 - 14,844,502 (-)RGD
HuRef914,697,961 - 14,874,294 (-)ENTREZGENE
CHM1_1914,734,708 - 14,910,773 (-)NCBI
Sequence:
RefSeq Acc Id: NR_163238
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38914,737,152 - 14,910,995 (-)NCBI
RefSeq Acc Id: NR_163239
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38914,737,152 - 14,910,428 (-)NCBI
RefSeq Acc Id: NR_163240
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38914,847,685 - 14,910,428 (-)NCBI
RefSeq Acc Id: NR_163241
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38914,847,685 - 14,910,428 (-)NCBI
RefSeq Acc Id: NR_163242
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38914,737,152 - 14,780,431 (-)NCBI
RefSeq Acc Id: XM_005251384   ⟹   XP_005251441
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38914,734,671 - 14,792,784 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006716729   ⟹   XP_006716792
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38914,734,671 - 14,797,641 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011517758   ⟹   XP_011516060
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38914,734,674 - 14,779,585 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017014316   ⟹   XP_016869805
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38914,734,671 - 14,910,432 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017014317   ⟹   XP_016869806
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38914,734,671 - 14,911,614 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017014319   ⟹   XP_016869808
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38914,734,671 - 14,910,705 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017014320   ⟹   XP_016869809
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38914,734,671 - 14,910,705 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017014321   ⟹   XP_016869810
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38914,734,671 - 14,910,705 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017014322   ⟹   XP_016869811
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38914,734,671 - 14,910,537 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017014323   ⟹   XP_016869812
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38914,734,671 - 14,911,653 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017014324   ⟹   XP_016869813
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38914,734,671 - 14,910,432 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017014325   ⟹   XP_016869814
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38914,734,666 - 14,910,432 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017014326   ⟹   XP_016869815
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38914,734,671 - 14,868,828 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017014327   ⟹   XP_016869816
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38914,734,671 - 14,857,636 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017014328   ⟹   XP_016869817
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38914,754,898 - 14,910,432 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017014329   ⟹   XP_016869818
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38914,751,597 - 14,910,432 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017014330   ⟹   XP_016869819
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38914,789,021 - 14,910,432 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001746194
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38914,734,666 - 14,910,432 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001746195
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38914,734,666 - 14,910,432 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001746196
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38914,784,557 - 14,910,432 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001746197
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38914,776,182 - 14,910,432 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001171175 (Get FASTA)   NCBI Sequence Viewer  
  NP_001356987 (Get FASTA)   NCBI Sequence Viewer  
  NP_001356989 (Get FASTA)   NCBI Sequence Viewer  
  NP_001356990 (Get FASTA)   NCBI Sequence Viewer  
  NP_001356992 (Get FASTA)   NCBI Sequence Viewer  
  NP_001356994 (Get FASTA)   NCBI Sequence Viewer  
  NP_001366010 (Get FASTA)   NCBI Sequence Viewer  
  NP_659403 (Get FASTA)   NCBI Sequence Viewer  
  XP_005251441 (Get FASTA)   NCBI Sequence Viewer  
  XP_006716792 (Get FASTA)   NCBI Sequence Viewer  
  XP_011516060 (Get FASTA)   NCBI Sequence Viewer  
  XP_016869805 (Get FASTA)   NCBI Sequence Viewer  
  XP_016869806 (Get FASTA)   NCBI Sequence Viewer  
  XP_016869808 (Get FASTA)   NCBI Sequence Viewer  
  XP_016869809 (Get FASTA)   NCBI Sequence Viewer  
  XP_016869810 (Get FASTA)   NCBI Sequence Viewer  
  XP_016869811 (Get FASTA)   NCBI Sequence Viewer  
  XP_016869812 (Get FASTA)   NCBI Sequence Viewer  
  XP_016869813 (Get FASTA)   NCBI Sequence Viewer  
  XP_016869814 (Get FASTA)   NCBI Sequence Viewer  
  XP_016869815 (Get FASTA)   NCBI Sequence Viewer  
  XP_016869816 (Get FASTA)   NCBI Sequence Viewer  
  XP_016869817 (Get FASTA)   NCBI Sequence Viewer  
  XP_016869818 (Get FASTA)   NCBI Sequence Viewer  
  XP_016869819 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH31064 (Get FASTA)   NCBI Sequence Viewer  
  BAB71709 (Get FASTA)   NCBI Sequence Viewer  
  BAD89015 (Get FASTA)   NCBI Sequence Viewer  
  CAE46048 (Get FASTA)   NCBI Sequence Viewer  
  EAW58688 (Get FASTA)   NCBI Sequence Viewer  
  EAW58689 (Get FASTA)   NCBI Sequence Viewer  
  EAW58690 (Get FASTA)   NCBI Sequence Viewer  
  Q5H8C1 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_659403   ⟸   NM_144966
- Peptide Label: isoform 1 precursor
- UniProtKB: Q5H8C1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001171175   ⟸   NM_001177704
- Peptide Label: isoform 2
- UniProtKB: Q5H8C1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005251441   ⟸   XM_005251384
- Peptide Label: isoform X11
- UniProtKB: Q5H8C1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006716792   ⟸   XM_006716729
- Peptide Label: isoform X11
- UniProtKB: Q5H8C1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011516060   ⟸   XM_011517758
- Peptide Label: isoform X10
- Sequence:
RefSeq Acc Id: XP_016869814   ⟸   XM_017014325
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016869812   ⟸   XM_017014323
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016869806   ⟸   XM_017014317
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016869810   ⟸   XM_017014321
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016869813   ⟸   XM_017014324
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016869805   ⟸   XM_017014316
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016869809   ⟸   XM_017014320
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016869808   ⟸   XM_017014319
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016869811   ⟸   XM_017014322
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016869815   ⟸   XM_017014326
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_016869816   ⟸   XM_017014327
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_016869818   ⟸   XM_017014329
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_016869817   ⟸   XM_017014328
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_016869819   ⟸   XM_017014330
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: NP_001356990   ⟸   NM_001370061
- Peptide Label: isoform 2
RefSeq Acc Id: NP_001356987   ⟸   NM_001370058
- Peptide Label: isoform 3
RefSeq Acc Id: NP_001356994   ⟸   NM_001370065
- Peptide Label: isoform 5 precursor
RefSeq Acc Id: NP_001356992   ⟸   NM_001370063
- Peptide Label: isoform 5 precursor
RefSeq Acc Id: NP_001356989   ⟸   NM_001370060
- Peptide Label: isoform 4 precursor
RefSeq Acc Id: NP_001366010   ⟸   NM_001379081
- Peptide Label: isoform 1 precursor
RefSeq Acc Id: ENSP00000412597   ⟸   ENST00000427623
RefSeq Acc Id: ENSP00000370262   ⟸   ENST00000380880
RefSeq Acc Id: ENSP00000370278   ⟸   ENST00000380894
RefSeq Acc Id: ENSP00000370257   ⟸   ENST00000380875
RefSeq Acc Id: ENSP00000412940   ⟸   ENST00000422223
Protein Domains
C-type lectin   Calx-beta

Promoters
RGD ID:7214701
Promoter ID:EPDNEW_H13097
Type:initiation region
Name:FREM1_2
Description:FRAS1 related extracellular matrix 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13098  EPDNEW_H13099  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38914,910,227 - 14,910,287EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NG_017005.2:g.64585_124811del deletion Oculotrichoanal syndrome [RCV000023741] Chr9:14790426..14850652 [GRCh38]
Chr9:14790424..14850650 [GRCh37]
Chr9:9p22.3
pathogenic
NM_001379081.2(FREM1):c.2097_2100del (p.Lys699fs) deletion Inborn genetic diseases [RCV001267163]|Oculotrichoanal syndrome [RCV000023742] Chr9:14824094..14824097 [GRCh38]
Chr9:14824092..14824095 [GRCh37]
Chr9:9p22.3
pathogenic
FREM1, VAL209ILE variation Oculotrichoanal syndrome [RCV000023744] Chr9:9p22.3 pathogenic
NM_144966.5(FREM1):c.2722del (p.Val908fs) deletion BNAR syndrome [RCV000002065] Chr9:14812983 [GRCh38]
Chr9:14812981 [GRCh37]
Chr9:9p22.3
pathogenic
NM_001379081.2(FREM1):c.4651del (p.Gln1551fs) deletion not provided [RCV000722184] Chr9:14775995 [GRCh38]
Chr9:14775993 [GRCh37]
Chr9:9p22.3
uncertain significance
NM_001379081.2(FREM1):c.3030G>A (p.Val1010=) single nucleotide variant not provided [RCV000728605] Chr9:14807998 [GRCh38]
Chr9:14807996 [GRCh37]
Chr9:9p22.3
uncertain significance
NM_001379081.2(FREM1):c.1945C>T (p.Arg649Trp) single nucleotide variant BNAR syndrome [RCV000002066]|not provided [RCV000059637] Chr9:14824929 [GRCh38]
Chr9:14824927 [GRCh37]
Chr9:9p22.3
pathogenic|not provided
NM_001379081.2(FREM1):c.4318G>A (p.Gly1440Ser) single nucleotide variant BNAR syndrome [RCV000002067]|not provided [RCV000059639] Chr9:14784494 [GRCh38]
Chr9:14784492 [GRCh37]
Chr9:9p22.3
pathogenic|not provided
NM_001379081.2(FREM1):c.3971T>G (p.Leu1324Arg) single nucleotide variant Oculotrichoanal syndrome [RCV000023743]|not provided [RCV000059638] Chr9:14792753 [GRCh38]
Chr9:14792751 [GRCh37]
Chr9:9p22.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_001379081.2(FREM1):c.4499A>T (p.Glu1500Val) single nucleotide variant Trigonocephaly 2 [RCV000023745]|not provided [RCV000059640] Chr9:14776147 [GRCh38]
Chr9:14776145 [GRCh37]
Chr9:9p22.3
pathogenic|not provided
NM_001379081.2(FREM1):c.1493G>A (p.Arg498Gln) single nucleotide variant Irido-corneo-trabecular dysgenesis [RCV000207399]|Oculotrichoanal syndrome [RCV000988143]|Trigonocephaly 2 [RCV000023746]|not provided [RCV000059636] Chr9:14842561 [GRCh38]
Chr9:14842559 [GRCh37]
Chr9:9p22.3
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p23-22.2(chr9:9661633-18034356)x1 copy number loss See cases [RCV000050580] Chr9:9661633..18034356 [GRCh38]
Chr9:9661633..18034354 [GRCh37]
Chr9:9651633..18024354 [NCBI36]
Chr9:9p23-22.2
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 copy number gain See cases [RCV000050357] Chr9:204193..38815478 [GRCh38]
Chr9:204193..38815475 [GRCh37]
Chr9:194193..38805475 [NCBI36]
Chr9:9p24.3-13.1
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 9p23-22.2(chr9:11086096-17636671)x1 copy number loss See cases [RCV000051021] Chr9:11086096..17636671 [GRCh38]
Chr9:11086096..17636669 [GRCh37]
Chr9:11076096..17626669 [NCBI36]
Chr9:9p23-22.2
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3 copy number gain See cases [RCV000051106] Chr9:204193..38741440 [GRCh38]
Chr9:204193..38741437 [GRCh37]
Chr9:194193..38731437 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p23-22.2(chr9:11818291-17963882)x1 copy number loss See cases [RCV000052899] Chr9:11818291..17963882 [GRCh38]
Chr9:11818291..17963880 [GRCh37]
Chr9:11808291..17953880 [NCBI36]
Chr9:9p23-22.2
pathogenic
GRCh38/hg38 9p22.3(chr9:14210805-15317500)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052900]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052900]|See cases [RCV000052900] Chr9:14210805..15317500 [GRCh38]
Chr9:14210804..15317498 [GRCh37]
Chr9:14200804..15307498 [NCBI36]
Chr9:9p22.3
pathogenic
GRCh38/hg38 9p24.3-22.2(chr9:220253-18073359)x1 copy number loss See cases [RCV000052860] Chr9:220253..18073359 [GRCh38]
Chr9:220253..18073357 [GRCh37]
Chr9:210253..18063357 [NCBI36]
Chr9:9p24.3-22.2
pathogenic
GRCh38/hg38 9p24.3-22.1(chr9:1242978-18957216)x1 copy number loss See cases [RCV000052863] Chr9:1242978..18957216 [GRCh38]
Chr9:1242978..18957214 [GRCh37]
Chr9:1232978..18947214 [NCBI36]
Chr9:9p24.3-22.1
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203993-38815619)x3 copy number gain See cases [RCV000053703] Chr9:203993..38815619 [GRCh38]
Chr9:203993..38815616 [GRCh37]
Chr9:193993..38805616 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p24.3-21.3(chr9:204193-22086858)x3 copy number gain See cases [RCV000053704] Chr9:204193..22086858 [GRCh38]
Chr9:204193..22086857 [GRCh37]
Chr9:194193..22076857 [NCBI36]
Chr9:9p24.3-21.3
pathogenic
GRCh38/hg38 9p24.3-13.3(chr9:204193-34599437)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053706]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053706]|See cases [RCV000053706] Chr9:204193..34599437 [GRCh38]
Chr9:204193..34599435 [GRCh37]
Chr9:194193..34589435 [NCBI36]
Chr9:9p24.3-13.3
pathogenic
GRCh38/hg38 9p24.3-13.3(chr9:204193-33284638)x3 copy number gain See cases [RCV000053707] Chr9:204193..33284638 [GRCh38]
Chr9:204193..33284636 [GRCh37]
Chr9:194193..33274636 [NCBI36]
Chr9:9p24.3-13.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3 copy number gain See cases [RCV000053747] Chr9:220253..38815419 [GRCh38]
Chr9:220253..38815416 [GRCh37]
Chr9:210253..38805416 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p23-21.1(chr9:9543538-30266463)x3 copy number gain See cases [RCV000053749] Chr9:9543538..30266463 [GRCh38]
Chr9:9543538..30266461 [GRCh37]
Chr9:9533538..30256461 [NCBI36]
Chr9:9p23-21.1
pathogenic
GRCh38/hg38 9p23-13.3(chr9:13526091-34261642)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053750]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053750]|See cases [RCV000053750] Chr9:13526091..34261642 [GRCh38]
Chr9:13526090..34261640 [GRCh37]
Chr9:13516090..34251640 [NCBI36]
Chr9:9p23-13.3
pathogenic
NM_144966.5(FREM1):c.4560G>A (p.Gly1520=) single nucleotide variant Malignant melanoma [RCV000068603] Chr9:14776086 [GRCh38]
Chr9:14776084 [GRCh37]
Chr9:14766084 [NCBI36]
Chr9:9p22.3
not provided
NM_144966.5(FREM1):c.4540G>A (p.Gly1514Arg) single nucleotide variant Malignant melanoma [RCV000068604] Chr9:14776106 [GRCh38]
Chr9:14776104 [GRCh37]
Chr9:14766104 [NCBI36]
Chr9:9p22.3
not provided
NM_144966.5(FREM1):c.3632C>T (p.Pro1211Leu) single nucleotide variant Malignant melanoma [RCV000068605] Chr9:14801714 [GRCh38]
Chr9:14801712 [GRCh37]
Chr9:14791712 [NCBI36]
Chr9:9p22.3
not provided
NM_144966.5(FREM1):c.2445C>T (p.Ser815=) single nucleotide variant Malignant melanoma [RCV000068606] Chr9:14819335 [GRCh38]
Chr9:14819333 [GRCh37]
Chr9:14809333 [NCBI36]
Chr9:9p22.3
not provided
NM_144966.5(FREM1):c.1831C>T (p.Gln611Ter) single nucleotide variant Malignant melanoma [RCV000068607] Chr9:14841497 [GRCh38]
Chr9:14841495 [GRCh37]
Chr9:14831495 [NCBI36]
Chr9:9p22.3
not provided
NM_001379081.2(FREM1):c.6271G>A (p.Val2091Ile) single nucleotide variant not provided [RCV000059641] Chr9:14740218 [GRCh38]
Chr9:14740216 [GRCh37]
Chr9:9p22.3
not provided
NM_144966.5(FREM1):c.5060-135T>C single nucleotide variant Lung cancer [RCV000108198] Chr9:14770003 [GRCh38]
Chr9:14770001 [GRCh37]
Chr9:9p22.3
uncertain significance
NM_144966.5(FREM1):c.3428C>G (p.Pro1143Arg) single nucleotide variant Lung cancer [RCV000108199] Chr9:14804999 [GRCh38]
Chr9:14804997 [GRCh37]
Chr9:9p22.3
uncertain significance
NM_001379081.2(FREM1):c.5249A>G (p.Tyr1750Cys) single nucleotide variant Trigonocephaly 2 [RCV000662055] Chr9:14759857 [GRCh38]
Chr9:14759855 [GRCh37]
Chr9:9p22.3
uncertain significance
NM_018075.5(ANO10):c.1954A>G (p.Met652Val) single nucleotide variant Oculotrichoanal syndrome [RCV000285020]|not provided [RCV001668334]|not specified [RCV000175105] Chr9:14816831 [GRCh38]
Chr9:14816829 [GRCh37]
Chr9:9p22.3
benign
GRCh37/hg19 9p24.3-13.1(chr9:203861-38472979)x3 copy number gain not provided [RCV000848175] Chr9:203861..38472979 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
NM_001379081.2(FREM1):c.2274C>A (p.Gly758=) single nucleotide variant Oculotrichoanal syndrome [RCV000367510]|not provided [RCV000968851]|not specified [RCV000174808] Chr9:14823223 [GRCh38]
Chr9:14823221 [GRCh37]
Chr9:9p22.3
benign|likely benign
NM_001379081.2(FREM1):c.3485A>G (p.Gln1162Arg) single nucleotide variant not provided [RCV000880848]|not specified [RCV000176237] Chr9:14801861 [GRCh38]
Chr9:14801859 [GRCh37]
Chr9:9p22.3
likely benign
NM_001379081.2(FREM1):c.5335-11dup duplication Oculotrichoanal syndrome [RCV000383645]|not provided [RCV001534799]|not specified [RCV000177480] Chr9:14756456..14756457 [GRCh38]
Chr9:14756454..14756455 [GRCh37]
Chr9:9p22.3
benign|likely benign
NM_001379081.2(FREM1):c.3694+6G>C single nucleotide variant Trigonocephaly 2 [RCV001331738] Chr9:14801646 [GRCh38]
Chr9:14801644 [GRCh37]
Chr9:9p22.3
uncertain significance
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-22.2(chr9:204193-18073359)x1 copy number loss See cases [RCV000133825] Chr9:204193..18073359 [GRCh38]
Chr9:204193..18073357 [GRCh37]
Chr9:194193..18063357 [NCBI36]
Chr9:9p24.3-22.2
pathogenic
GRCh38/hg38 9p24.3-21.1(chr9:220257-29424848)x3 copy number gain See cases [RCV000134037] Chr9:220257..29424848 [GRCh38]
Chr9:220257..29424846 [GRCh37]
Chr9:210257..29414846 [NCBI36]
Chr9:9p24.3-21.1
pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3 copy number gain See cases [RCV000135344] Chr9:13997..68401065 [GRCh38]
Chr9:13997..71015981 [GRCh37]
Chr9:3997..70205801 [NCBI36]
Chr9:9p24.3-q21.11
pathogenic
GRCh38/hg38 9p24.3-22.1(chr9:220253-18708805)x1 copy number loss See cases [RCV000135660] Chr9:220253..18708805 [GRCh38]
Chr9:220253..18708803 [GRCh37]
Chr9:210253..18698803 [NCBI36]
Chr9:9p24.3-22.1
pathogenic
GRCh38/hg38 9p24.3-22.1(chr9:204104-18882281)x1 copy number loss See cases [RCV000135694] Chr9:204104..18882281 [GRCh38]
Chr9:204104..18882279 [GRCh37]
Chr9:194104..18872279 [NCBI36]
Chr9:9p24.3-22.1
pathogenic
GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3 copy number gain See cases [RCV000136152] Chr9:193412..70630731 [GRCh38]
Chr9:220253..73245647 [GRCh37]
Chr9:210253..72435467 [NCBI36]
Chr9:9p24.3-q21.12
pathogenic
GRCh38/hg38 9p24.3-22.2(chr9:204193-16897580)x1 copy number loss See cases [RCV000135968] Chr9:204193..16897580 [GRCh38]
Chr9:204193..16897578 [GRCh37]
Chr9:194193..16887578 [NCBI36]
Chr9:9p24.3-22.2
pathogenic
GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3 copy number gain See cases [RCV000135954] Chr9:193412..74615913 [GRCh38]
Chr9:204193..77230829 [GRCh37]
Chr9:194193..76420649 [NCBI36]
Chr9:9p24.3-q21.13
pathogenic
GRCh38/hg38 9p24.3-22.3(chr9:214367-16307944)x1 copy number loss See cases [RCV000136859] Chr9:214367..16307944 [GRCh38]
Chr9:214367..16307942 [GRCh37]
Chr9:204367..16297942 [NCBI36]
Chr9:9p24.3-22.3
pathogenic
GRCh38/hg38 9p24.1-21.2(chr9:4661872-27661572)x3 copy number gain See cases [RCV000136680] Chr9:4661872..27661572 [GRCh38]
Chr9:4661872..27661570 [GRCh37]
Chr9:4651872..27651570 [NCBI36]
Chr9:9p24.1-21.2
pathogenic
GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3 copy number gain See cases [RCV000137741] Chr9:7162304..37038771 [GRCh38]
Chr9:7162304..37038768 [GRCh37]
Chr9:7152304..37028768 [NCBI36]
Chr9:9p24.1-13.2
pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4 copy number gain See cases [RCV000137888] Chr9:204104..66233120 [GRCh38]
Chr9:204104..47212321 [GRCh37]
Chr9:194104..47002141 [NCBI36]
Chr9:9p24.3-q21.11
pathogenic|conflicting data from submitters
NM_001379081.2(FREM1):c.4412G>A (p.Ser1471Asn) single nucleotide variant Oculotrichoanal syndrome [RCV001168977]|Trigonocephaly 2 [RCV001331739]|not specified [RCV000202844] Chr9:14784400 [GRCh38]
Chr9:14784398 [GRCh37]
Chr9:9p22.3
uncertain significance
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-21.3(chr9:459131-24207894)x3 copy number gain See cases [RCV000138499] Chr9:459131..24207894 [GRCh38]
Chr9:459131..24207892 [GRCh37]
Chr9:449131..24197892 [NCBI36]
Chr9:9p24.3-21.3
pathogenic
GRCh38/hg38 9p23-22.3(chr9:14182609-14903052)x1 copy number loss See cases [RCV000138542] Chr9:14182609..14903052 [GRCh38]
Chr9:14182608..14903050 [GRCh37]
Chr9:14172608..14893050 [NCBI36]
Chr9:9p23-22.3
uncertain significance
GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3 copy number gain See cases [RCV000139208] Chr9:204104..67549861 [GRCh38]
Chr9:204104..66516698 [GRCh37]
Chr9:194104..66256518 [NCBI36]
Chr9:9p24.3-q21.11
pathogenic
GRCh38/hg38 9p24.3-13.3(chr9:204104-34151476)x3 copy number gain See cases [RCV000139015] Chr9:204104..34151476 [GRCh38]
Chr9:204104..34151474 [GRCh37]
Chr9:194104..34141474 [NCBI36]
Chr9:9p24.3-13.3
pathogenic|likely benign
GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3 copy number gain See cases [RCV000139126] Chr9:204104..38768294 [GRCh38]
Chr9:204104..38768291 [GRCh37]
Chr9:194104..38758291 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic|conflicting data from submitters
GRCh38/hg38 9p24.3-21.2(chr9:204104-27963369)x3 copy number gain See cases [RCV000139621] Chr9:204104..27963369 [GRCh38]
Chr9:204104..27963367 [GRCh37]
Chr9:194104..27953367 [NCBI36]
Chr9:9p24.3-21.2
pathogenic
GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4 copy number gain See cases [RCV000141904] Chr9:203861..88130444 [GRCh38]
Chr9:203861..90745359 [GRCh37]
Chr9:193861..89935179 [NCBI36]
Chr9:9p24.3-q22.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-21.1(chr9:203861-31423873)x4 copy number gain See cases [RCV000141662] Chr9:203861..31423873 [GRCh38]
Chr9:203861..31423871 [GRCh37]
Chr9:193861..31413871 [NCBI36]
Chr9:9p24.3-21.1
pathogenic
GRCh38/hg38 9p24.3-22.3(chr9:322690-16401656)x1 copy number loss See cases [RCV000141442] Chr9:322690..16401656 [GRCh38]
Chr9:322690..16401654 [GRCh37]
Chr9:312690..16391654 [NCBI36]
Chr9:9p24.3-22.3
pathogenic
GRCh38/hg38 9p24.3-22.3(chr9:204090-15260600)x1 copy number loss See cases [RCV000142964] Chr9:204090..15260600 [GRCh38]
Chr9:204090..15260598 [GRCh37]
Chr9:194090..15250598 [NCBI36]
Chr9:9p24.3-22.3
pathogenic
GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3 copy number gain See cases [RCV000143012] Chr9:193412..79877816 [GRCh38]
Chr9:204104..82492731 [GRCh37]
Chr9:194104..81682551 [NCBI36]
Chr9:9p24.3-q21.31
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642) copy number gain See cases [RCV000143411] Chr9:203861..38381642 [GRCh38]
Chr9:203861..38381639 [GRCh37]
Chr9:193861..38371639 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
NM_001379081.2(FREM1):c.3147C>T (p.Ser1049=) single nucleotide variant Oculotrichoanal syndrome [RCV001169035]|not provided [RCV000907658]|not specified [RCV000175489] Chr9:14806788 [GRCh38]
Chr9:14806786 [GRCh37]
Chr9:9p22.3
benign|likely benign|uncertain significance
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 copy number gain See cases [RCV000148159] Chr9:204193..38815478 [GRCh38]
Chr9:204193..38815475 [GRCh37]
Chr9:194193..38805475 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
NM_001379081.2(FREM1):c.2663C>T (p.Pro888Leu) single nucleotide variant not specified [RCV000203185] Chr9:14813042 [GRCh38]
Chr9:14813040 [GRCh37]
Chr9:9p22.3
uncertain significance
NM_001379081.2(FREM1):c.3631C>T (p.Pro1211Ser) single nucleotide variant not provided [RCV000176238] Chr9:14801715 [GRCh38]
Chr9:14801713 [GRCh37]
Chr9:9p22.3
uncertain significance
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3
pathogenic
NM_001379081.2(FREM1):c.261C>T (p.Asn87=) single nucleotide variant not provided [RCV000178389] Chr9:14863877 [GRCh38]
Chr9:14863875 [GRCh37]
Chr9:9p22.3
uncertain significance
NM_001379081.2(FREM1):c.541C>T (p.Arg181Trp) single nucleotide variant not provided [RCV000179012] Chr9:14859273 [GRCh38]
Chr9:14859271 [GRCh37]
Chr9:9p22.3
uncertain significance
NM_001379081.2(FREM1):c.571G>A (p.Gly191Arg) single nucleotide variant Oculotrichoanal syndrome [RCV001166249]|not provided [RCV000179013] Chr9:14859243 [GRCh38]
Chr9:14859241 [GRCh37]
Chr9:9p22.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001379081.2(FREM1):c.4367G>A (p.Ser1456Asn) single nucleotide variant not provided [RCV000176595] Chr9:14784445 [GRCh38]
Chr9:14784443 [GRCh37]
Chr9:9p22.3
uncertain significance
NM_001379081.2(FREM1):c.4489A>T (p.Ile1497Phe) single nucleotide variant not provided [RCV000176697] Chr9:14776157 [GRCh38]
Chr9:14776155 [GRCh37]
Chr9:9p22.3
uncertain significance
GRCh37/hg19 9p24.3-13.1(chr9:163131-38763958)x3 copy number gain See cases [RCV000240201] Chr9:163131..38763958 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
NM_001379081.2(FREM1):c.3575G>A (p.Arg1192His) single nucleotide variant Oculotrichoanal syndrome [RCV000268874]|not provided [RCV001709570]|not specified [RCV000312077] Chr9:14801771 [GRCh38]
Chr9:14801769 [GRCh37]
Chr9:9p22.3
benign|likely benign
NM_001379081.2(FREM1):c.1464C>T (p.Ser488=) single nucleotide variant Oculotrichoanal syndrome [RCV000381158]|not provided [RCV000960044]|not specified [RCV000277082] Chr9:14842590 [GRCh38]
Chr9:14842588 [GRCh37]
Chr9:9p22.3
benign|likely benign|uncertain significance
NM_001379081.2(FREM1):c.1394G>C (p.Gly465Ala) single nucleotide variant Congenital diaphragmatic hernia [RCV000203291]|Oculotrichoanal syndrome [RCV000289080]|not specified [RCV000249912] Chr9:14842660 [GRCh38]
Chr9:14842658 [GRCh37]
Chr9:9p22.3
benign|likely benign|uncertain significance
NM_001379081.2(FREM1):c.4466G>A (p.Arg1489Gln) single nucleotide variant Oculotrichoanal syndrome [RCV000326510]|not specified [RCV000407077] Chr9:14776180 [GRCh38]
Chr9:14776178 [GRCh37]
Chr9:9p22.3
benign|uncertain significance
GRCh37/hg19 9p24.3-11.2(chr9:213161-47212321)x4 copy number gain See cases [RCV000240048] Chr9:213161..47212321 [GRCh37]
Chr9:9p24.3-11.2
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:213161-39092820)x3 copy number gain See cases [RCV000239869] Chr9:213161..39092820 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
NM_001379081.2(FREM1):c.5123T>C (p.Ile1708Thr) single nucleotide variant Oculotrichoanal syndrome [RCV000344199]|not provided [RCV000301001] Chr9:14769805 [GRCh38]
Chr9:14769803 [GRCh37]
Chr9:9p22.3
uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_001379081.2(FREM1):c.1315G>C (p.Val439Leu) single nucleotide variant Oculotrichoanal syndrome [RCV000394972]|not provided [RCV001689938]|not specified [RCV000246180] Chr9:14846038 [GRCh38]
Chr9:14846036 [GRCh37]
Chr9:9p22.3
benign
NM_139279.6(MCFD2):c.249del (p.Asp83fs) single nucleotide variant Oculotrichoanal syndrome [RCV000268325]|not provided [RCV001610750]|not specified [RCV000244139] Chr9:14747414 [GRCh38]
Chr9:14747412 [GRCh37]
Chr9:9p22.3
benign|likely benign
NM_001379081.2(FREM1):c.2408C>A (p.Ser803Tyr) single nucleotide variant Oculotrichoanal syndrome [RCV000306924]|not provided [RCV001527894]|not specified [RCV000241885] Chr9:14819372 [GRCh38]
Chr9:14819370 [GRCh37]
Chr9:9p22.3
benign
NM_001379081.2(FREM1):c.4727A>T (p.Asn1576Ile) single nucleotide variant Oculotrichoanal syndrome [RCV000359914]|not provided [RCV000957889]|not specified [RCV000251738] Chr9:14775919 [GRCh38]
Chr9:14775917 [GRCh37]
Chr9:9p22.3
benign|likely benign
NM_001379081.2(FREM1):c.6428A>C (p.Gln2143Pro) single nucleotide variant Oculotrichoanal syndrome [RCV000314531]|not provided [RCV001683136]|not specified [RCV000249478] Chr9:14737508 [GRCh38]
Chr9:14737506 [GRCh37]
Chr9:9p22.3
benign
NM_139279.6(MCFD2):c.249del (p.Asp83fs) single nucleotide variant Oculotrichoanal syndrome [RCV000400335]|not provided [RCV001618480]|not specified [RCV000242193] Chr9:14801689 [GRCh38]
Chr9:14801687 [GRCh37]
Chr9:9p22.3
benign
NM_001379081.2(FREM1):c.4617G>A (p.Ala1539=) single nucleotide variant Oculotrichoanal syndrome [RCV000320265]|not provided [RCV001725155]|not specified [RCV000247196] Chr9:14776029 [GRCh38]
Chr9:14776027 [GRCh37]
Chr9:9p22.3
benign|likely benign
NM_018075.5(ANO10):c.1954A>G (p.Met652Val) single nucleotide variant Oculotrichoanal syndrome [RCV000395089]|not provided [RCV001651275]|not specified [RCV000252135] Chr9:14770660 [GRCh38]
Chr9:14770658 [GRCh37]
Chr9:9p22.3
benign
NM_018075.5(ANO10):c.1954A>G (p.Met652Val) single nucleotide variant Oculotrichoanal syndrome [RCV000276927]|not provided [RCV001668605]|not specified [RCV000244850] Chr9:14806850 [GRCh38]
Chr9:14806848 [GRCh37]
Chr9:9p22.3
benign
NM_015087.5(SPART):c.1172A>G (p.Asp391Gly) single nucleotide variant Oculotrichoanal syndrome [RCV000310573]|not provided [RCV001640579]|not specified [RCV000249815] Chr9:14801712 [GRCh38]
Chr9:14801710 [GRCh37]
Chr9:9p22.3
benign
NM_001379081.2(FREM1):c.4785C>T (p.Ala1595=) single nucleotide variant Oculotrichoanal syndrome [RCV000400941]|not provided [RCV001675763]|not specified [RCV000242610] Chr9:14775861 [GRCh38]
Chr9:14775859 [GRCh37]
Chr9:9p22.3
benign
NM_001379081.2(FREM1):c.4791T>C (p.Asp1597=) single nucleotide variant Oculotrichoanal syndrome [RCV000354383]|not provided [RCV001725156]|not specified [RCV000247594] Chr9:14775855 [GRCh38]
Chr9:14775853 [GRCh37]
Chr9:9p22.3
benign
NM_001379081.2(FREM1):c.829-12A>G single nucleotide variant Oculotrichoanal syndrome [RCV000402313]|not provided [RCV001689939]|not specified [RCV000252831] Chr9:14851619 [GRCh38]
Chr9:14851617 [GRCh37]
Chr9:9p22.3
benign
GRCh37/hg19 9p24.3-22.1(chr9:213161-19450250)x3 copy number gain See cases [RCV000240225] Chr9:213161..19450250 [GRCh37]
Chr9:9p24.3-22.1
pathogenic
NM_144966.5(FREM1):c.*2125del deletion Oculotrichoanal syndrome [RCV000267241] Chr9:14735271 [GRCh38]
Chr9:14735269 [GRCh37]
Chr9:9p22.3
uncertain significance
NM_144966.5(FREM1):c.1815C>G (p.Ile605Met) single nucleotide variant Oculotrichoanal syndrome [RCV000267657] Chr9:14841513 [GRCh38]
Chr9:14841511 [GRCh37]
Chr9:9p22.3
uncertain significance
NM_001379081.2(FREM1):c.5466T>C (p.Asp1822=) single nucleotide variant Oculotrichoanal syndrome [RCV000283748]|not provided [RCV000956707] Chr9:14750218 [GRCh38]
Chr9:14750216 [GRCh37]
Chr9:9p22.3
benign|uncertain significance
NM_144966.5(FREM1):c.*2320A>C single nucleotide variant Oculotrichoanal syndrome [RCV000301531] Chr9:14735076 [GRCh38]
Chr9:14735074 [GRCh37]
Chr9:9p22.3
benign
NM_144966.5(FREM1):c.*1073G>A single nucleotide variant Oculotrichoanal syndrome [RCV000302048] Chr9:14736323 [GRCh38]
Chr9:14736321 [GRCh37]
Chr9:9p22.3
uncertain significance
NM_001379081.2(FREM1):c.1791T>C (p.Tyr597=) single nucleotide variant Oculotrichoanal syndrome [RCV000320333]|not provided [RCV000963925] Chr9:14841537 [GRCh38]
Chr9:14841535 [GRCh37]
Chr9:9p22.3
benign|likely benign
NM_001379081.2(FREM1):c.6255-4T>G single nucleotide variant Oculotrichoanal syndrome [RCV000369163]|not provided [RCV000963923] Chr9:14740238 [GRCh38]
Chr9:14740236 [GRCh37]
Chr9:9p22.3
benign|likely benign
NM_001379081.2(FREM1):c.3359A>T (p.Gln1120Leu) single nucleotide variant Oculotrichoanal syndrome [RCV000369261]|not provided [RCV000894514] Chr9:14805068 [GRCh38]
Chr9:14805066 [GRCh37]
Chr9:9p22.3
benign|uncertain significance
NM_144966.5(FREM1):c.-176A>T single nucleotide variant Oculotrichoanal syndrome [RCV000394826] Chr9:14869153 [GRCh38]
Chr9:14869151 [GRCh37]
Chr9:9p22.3
uncertain significance
NM_144966.5(FREM1):c.*2324T>A single nucleotide variant Oculotrichoanal syndrome [RCV000395011] Chr9:14735072 [GRCh38]
Chr9:14735070 [GRCh37]
Chr9:9p22.3
likely benign|uncertain significance
NM_144966.5(FREM1):c.1047G>A (p.Leu349=) single nucleotide variant Oculotrichoanal syndrome [RCV000395026]|not provided [RCV000970200] Chr9:14851389 [GRCh38]
Chr9:14851387 [GRCh37]
Chr9:9p22.3
benign|likely benign
NM_000744.7(CHRNA4):c.1227T>C (p.Cys409=) single nucleotide variant Oculotrichoanal syndrome [RCV000394823]|not provided [RCV001675885] Chr9:14869112 [GRCh38]
Chr9:14869110 [GRCh37]
Chr9:9p22.3
benign
NM_144966.5(FREM1):c.4859T>C (p.Val1620Ala) single nucleotide variant Oculotrichoanal syndrome [RCV000395094] Chr9:14770805 [GRCh38]
Chr9:14770803 [GRCh37]
Chr9:9p22.3
benign|uncertain significance
NM_144966.5(FREM1):c.*2378G>A single nucleotide variant Oculotrichoanal syndrome [RCV000395010] Chr9:14735018 [GRCh38]
Chr9:14735016 [GRCh37]
Chr9:9p22.3
benign|likely benign
NM_144966.5(FREM1):c.516C>T (p.Thr172=) single nucleotide variant Oculotrichoanal syndrome [RCV000268942] Chr9:14859298 [GRCh38]
Chr9:14859296 [GRCh37]
Chr9:9p22.3
benign|likely benign
NM_144966.5(FREM1):c.*139del deletion Oculotrichoanal syndrome [RCV000284783] Chr9:14737257 [GRCh38]
Chr9:14737255 [GRCh37]
Chr9:9p22.3
uncertain significance
NM_001379081.2(FREM1):c.-149A>G single nucleotide variant Oculotrichoanal syndrome [RCV000302450] Chr9:14869126 [GRCh38]
Chr9:14869124 [GRCh37]
Chr9:9p22.3
uncertain significance
NM_001379081.2(FREM1):c.2358A>G (p.Lys786=) single nucleotide variant Oculotrichoanal syndrome [RCV000345461]|not provided [RCV000965098] Chr9:14819422 [GRCh38]
Chr9:14819420 [GRCh37]
Chr9:9p22.3
benign|likely benign
NM_001379081.2(FREM1):c.6465A>G (p.Gln2155=) single nucleotide variant Oculotrichoanal syndrome [RCV000345719]|not provided [RCV000963230] Chr9:14737471 [GRCh38]
Chr9:14737469 [GRCh37]
Chr9:9p22.3
likely benign|uncertain significance
NM_001379081.2(FREM1):c.-587G>T single nucleotide variant Oculotrichoanal syndrome [RCV000370920] Chr9:14910233 [GRCh38]
Chr9:14910231 [GRCh37]
Chr9:9p22.3
uncertain significance
NM_144966.5(FREM1):c.*10A>T single nucleotide variant Oculotrichoanal syndrome [RCV000396007] Chr9:14737386 [GRCh38]
Chr9:14737384 [GRCh37]
Chr9:9p22.3
uncertain significance
NM_144966.5(FREM1):c.2337+3A>G single nucleotide variant Oculotrichoanal syndrome [RCV000396911] Chr9:14823157 [GRCh38]
Chr9:14823155 [GRCh37]
Chr9:9p22.3
uncertain significance
NM_144966.5(FREM1):c.2420C>G (p.Thr807Ser) single nucleotide variant Oculotrichoanal syndrome [RCV000396923] Chr9:14819360 [GRCh38]
Chr9:14819358 [GRCh37]
Chr9:9p22.3
uncertain significance
NM_001379081.2(FREM1):c.2727C>T (p.Ile909=) single nucleotide variant Oculotrichoanal syndrome [RCV000286222] Chr9:14812978 [GRCh38]
Chr9:14812976 [GRCh37]
Chr9:9p22.3
uncertain significance
NM_001379081.2(FREM1):c.5814T>A (p.Val1938=) single nucleotide variant Oculotrichoanal syndrome [RCV000323514]|not provided [RCV000956706] Chr9:14747711 [GRCh38]
Chr9:14747709 [GRCh37]
Chr9:9p22.3
benign|likely benign
NM_001379081.2(FREM1):c.2526T>C (p.Asp842=) single nucleotide variant Oculotrichoanal syndrome [RCV000346979] Chr9:14819254 [GRCh38]
Chr9:14819252 [GRCh37]
Chr9:9p22.3
uncertain significance
NM_001379081.2(FREM1):c.1495A>G (p.Ile499Val) single nucleotide variant Oculotrichoanal syndrome [RCV000347145] Chr9:14842559 [GRCh38]
Chr9:14842557 [GRCh37]
Chr9:9p22.3
benign|likely benign
NM_144966.5(FREM1):c.6139-4T>C single nucleotide variant Oculotrichoanal syndrome [RCV000398791]|not provided [RCV000963924] Chr9:14746472 [GRCh38]
Chr9:14746470 [GRCh37]
Chr9:9p22.3
benign|uncertain significance
NM_144966.5(FREM1):c.-396C>T single nucleotide variant Oculotrichoanal syndrome [RCV000270451] Chr9:14910042 [GRCh38]
Chr9:14910040 [GRCh37]
Chr9:9p22.3
likely benign|uncertain significance
NM_001379081.2(FREM1):c.3756A>G (p.Gln1252=) single nucleotide variant Oculotrichoanal syndrome [RCV000304694] Chr9:14797581 [GRCh38]
Chr9:14797579 [GRCh37]
Chr9:9p22.3
uncertain significance
NM_144966.5(FREM1):c.*1256T>A single nucleotide variant Oculotrichoanal syndrome [RCV000305163] Chr9:14736140 [GRCh38]
Chr9:14736138 [GRCh37]
Chr9:9p22.3
benign|likely benign
NM_001379081.2(FREM1):c.4754A>G (p.Asp1585Gly) single nucleotide variant Oculotrichoanal syndrome [RCV000305251]|not provided [RCV000912397] Chr9:14775892 [GRCh38]
Chr9:14775890 [GRCh37]
Chr9:9p22.3
benign|uncertain significance
NM_144966.5(FREM1):c.*389T>C single nucleotide variant Oculotrichoanal syndrome [RCV000373224] Chr9:14737007 [GRCh38]
Chr9:14737005 [GRCh37]
Chr9:9p22.3
benign|uncertain significance
NM_144966.5(FREM1):c.*2670T>A single nucleotide variant Oculotrichoanal syndrome [RCV000373328] Chr9:14734726 [GRCh38]
Chr9:14734724 [GRCh37]
Chr9:9p22.3
uncertain significance
NM_001379081.2(FREM1):c.2785G>T (p.Val929Leu) single nucleotide variant Oculotrichoanal syndrome [RCV000373588] Chr9:14812920 [GRCh38]
Chr9:14812918 [GRCh37]
Chr9:9p22.3
uncertain significance
NM_018075.5(ANO10):c.1954A>G (p.Met652Val) single nucleotide variant Oculotrichoanal syndrome [RCV000271467]|not provided [RCV001653757] Chr9:14776142 [GRCh38]
Chr9:14776140 [GRCh37]
Chr9:9p22.3
benign|likely benign
NM_144966.5(FREM1):c.*1024C>T single nucleotide variant Oculotrichoanal syndrome [RCV000271544] Chr9:14736372 [GRCh38]
Chr9:14736370 [GRCh37]
Chr9:9p22.3
uncertain significance
NM_139279.6(MCFD2):c.249del (p.Asp83fs) single nucleotide variant Oculotrichoanal syndrome [RCV000305751]|not provided [RCV001637006] Chr9:14857742 [GRCh38]
Chr9:14857740 [GRCh37]
Chr9:9p22.3
benign
null single nucleotide variant Oculotrichoanal syndrome [RCV000326321]|not provided [RCV001692073] Chr9:14859358 [GRCh38]
Chr9:14859356 [GRCh37]
Chr9:9p22.3
benign
NM_001379081.2(FREM1):c.1119A>T (p.Pro373=) single nucleotide variant Oculotrichoanal syndrome [RCV000349938] Chr9:14851317 [GRCh38]
Chr9:14851315 [GRCh37]
Chr9:9p22.3
uncertain significance
NM_144966.5(FREM1):c.*2330C>G single nucleotide variant Oculotrichoanal syndrome [RCV000350598] Chr9:14735066 [GRCh38]
Chr9:14735064 [GRCh37]
Chr9:9p22.3
benign
NM_001379081.2(FREM1):c.4875A>C (p.Lys1625Asn) single nucleotide variant Oculotrichoanal syndrome [RCV000350292]|not provided [RCV000960906] Chr9:14770789 [GRCh38]
Chr9:14770787 [GRCh37]
Chr9:9p22.3
benign|uncertain significance
NM_001379081.2(FREM1):c.1512C>T (p.His504=) single nucleotide variant Oculotrichoanal syndrome [RCV000289894]|not provided [RCV000975207] Chr9:14842542 [GRCh38]
Chr9:14842540 [GRCh37]
Chr9:9p22.3
benign|likely benign
NM_001379081.2(FREM1):c.3471+11T>C single nucleotide variant Oculotrichoanal syndrome [RCV000307598]|not provided [RCV001672720] Chr9:14804945 [GRCh38]
Chr9:14804943 [GRCh37]
Chr9:9p22.3
benign
NM_144966.5(FREM1):c.*1788C>G single nucleotide variant Oculotrichoanal syndrome [RCV000327891] Chr9:14735608 [GRCh38]
Chr9:14735606 [GRCh37]
Chr9:9p22.3
uncertain significance
NM_001379081.2(FREM1):c.550G>A (p.Ala184Thr) single nucleotide variant Oculotrichoanal syndrome [RCV000328032]|not provided [RCV000999143] Chr9:14859264 [GRCh38]
Chr9:14859262 [GRCh37]
Chr9:9p22.3
uncertain significance
NM_001379081.2(FREM1):c.1345C>T (p.Arg449Trp) single nucleotide variant Oculotrichoanal syndrome [RCV000351071] Chr9:14846008 [GRCh38]
Chr9:14846006 [GRCh37]
Chr9:9p22.3
uncertain significance
NM_144966.5(FREM1):c.*2405T>G single nucleotide variant Oculotrichoanal syndrome [RCV000351608] Chr9:14734991 [GRCh38]
Chr9:14734989 [GRCh37]
Chr9:9p22.3
likely benign|uncertain significance
NM_001379081.2(FREM1):c.1640C>G (p.Ala547Gly) single nucleotide variant Chronic kidney disease [RCV001171324]|Congenital anomalies of kidney and urinary tract [RCV001328303]|Oculotrichoanal syndrome [RCV000377307] Chr9:14842414 [GRCh38]
Chr9:14842412 [GRCh37]
Chr9:9p22.3
uncertain significance
NM_144966.7(FREM1):c.-766A>C single nucleotide variant Oculotrichoanal syndrome [RCV000274031] Chr9:14910945 [GRCh38]
Chr9:14910943 [GRCh37]
Chr9:9p22.3
likely benign
NM_144966.5(FREM1):c.*985T>G single nucleotide variant Oculotrichoanal syndrome [RCV000307910] Chr9:14736411 [GRCh38]
Chr9:14736409 [GRCh37]
Chr9:9p22.3
benign|likely benign
NM_144966.5(FREM1):c.3048G>A (p.Thr1016=) single nucleotide variant Oculotrichoanal syndrome [RCV000329717]|not provided [RCV000975206] Chr9:14807980 [GRCh38]
Chr9:14807978 [GRCh37]
Chr9:9p22.3
benign|likely benign
NM_144966.5(FREM1):c.207C>T (p.Thr69=) single nucleotide variant Oculotrichoanal syndrome [RCV000329787] Chr9:14868771 [GRCh38]
Chr9:14868769 [GRCh37]
Chr9:9p22.3
uncertain significance
NM_001379081.2(FREM1):c.5596C>T (p.His1866Tyr) single nucleotide variant Oculotrichoanal syndrome [RCV000378178] Chr9:14748601 [GRCh38]
Chr9:14748599 [GRCh37]
Chr9:9p22.3
uncertain significance
NM_139279.6(MCFD2):c.249del (p.Asp83fs) single nucleotide variant Oculotrichoanal syndrome [RCV000378533]|not provided [RCV001613227] Chr9:14824801 [GRCh38]
Chr9:14824799 [GRCh37]
Chr9:9p22.3
benign|likely benign
NM_001379081.2(FREM1):c.*148A>G single nucleotide variant Oculotrichoanal syndrome [RCV000379207]|not provided [RCV001692071] Chr9:14737248 [GRCh38]
Chr9:14737246 [GRCh37]
Chr9:9p22.3
benign|likely benign
NM_001379081.2(FREM1):c.6528C>T (p.Ser2176=) single nucleotide variant Oculotrichoanal syndrome [RCV000309501]|not provided [RCV000889991] Chr9:14737408 [GRCh38]
Chr9:14737406 [GRCh37]
Chr9:9p22.3
benign|likely benign|uncertain significance
NM_001379081.2(FREM1):c.5916C>T (p.Ser1972=) single nucleotide variant Oculotrichoanal syndrome [RCV000353995] Chr9:14747357 [GRCh38]
Chr9:14747355 [GRCh37]
Chr9:9p22.3
uncertain significance
NM_139279.6(MCFD2):c.249del (p.Asp83fs) single nucleotide variant Oculotrichoanal syndrome [RCV000354727]|not provided [RCV001613228] Chr9:14851596 [GRCh38]
Chr9:14851594 [GRCh37]
Chr9:9p22.3
benign|likely benign
NM_144966.5(FREM1):c.*2254A>G single nucleotide variant Oculotrichoanal syndrome [RCV000401448] Chr9:14735142 [GRCh38]
Chr9:14735140 [GRCh37]
Chr9:9p22.3
benign
NM_001379081.2(FREM1):c.8C>T (p.Ser3Phe) single nucleotide variant Oculotrichoanal syndrome [RCV000402721] Chr9:14868970 [GRCh38]
Chr9:14868968 [GRCh37]
Chr9:9p22.3
uncertain significance
NM_001379081.2(FREM1):c.2104A>G (p.Met702Val) single nucleotide variant Oculotrichoanal syndrome [RCV000259454]|not provided [RCV001683451] Chr9:14824090 [GRCh38]
Chr9:14824088 [GRCh37]
Chr9:9p22.3
benign|likely benign
NM_144966.5(FREM1):c.2170C>T (p.His724Tyr) single nucleotide variant Oculotrichoanal syndrome [RCV000275271] Chr9:14823327 [GRCh38]
Chr9:14823325 [GRCh37]
Chr9:9p22.3
uncertain significance
NM_001379081.2(FREM1):c.1165G>T (p.Val389Leu) single nucleotide variant Oculotrichoanal syndrome [RCV000292709] Chr9:14848761 [GRCh38]
Chr9:14848759 [GRCh37]
Chr9:9p22.3
uncertain significance
NM_001379081.2(FREM1):c.6139-4T>A single nucleotide variant Oculotrichoanal syndrome [RCV000310930]|not provided [RCV000957135] Chr9:14746472 [GRCh38]
Chr9:14746470 [GRCh37]
Chr9:9p22.3
benign|uncertain significance
NM_001379081.2(FREM1):c.-204T>G single nucleotide variant Oculotrichoanal syndrome [RCV000310746]|not provided [RCV001692074] Chr9:14869181 [GRCh38]
Chr9:14869179 [GRCh37]
Chr9:9p22.3
benign|likely benign
NM_144966.5(FREM1):c.*530T>C single nucleotide variant Oculotrichoanal syndrome [RCV000332294] Chr9:14736866 [GRCh38]
Chr9:14736864 [GRCh37]
Chr9:9p22.3
likely benign|uncertain significance
NM_144966.5(FREM1):c.-582G>A single nucleotide variant Oculotrichoanal syndrome [RCV000332525] Chr9:14910228 [GRCh38]
Chr9:14910226 [GRCh37]
Chr9:9p22.3
uncertain significance
NM_001379081.2(FREM1):c.4244C>G (p.Thr1415Ser) single nucleotide variant Oculotrichoanal syndrome [RCV000332215]|not provided [RCV000953604] Chr9:14784568 [GRCh38]
Chr9:14784566 [GRCh37]
Chr9:9p22.3
benign|likely benign
NM_144966.5(FREM1):c.*2296G>A single nucleotide variant Oculotrichoanal syndrome [RCV000356218] Chr9:14735100 [GRCh38]
Chr9:14735098 [GRCh37]
Chr9:9p22.3
benign|likely benign
NM_018075.5(ANO10):c.1954A>G (p.Met652Val) single nucleotide variant Oculotrichoanal syndrome [RCV000381229]|not provided [RCV001662355] Chr9:14784391 [GRCh38]
Chr9:14784389 [GRCh37]
Chr9:9p22.3
benign|likely benign
NM_144966.5(FREM1):c.*1784A>G single nucleotide variant Oculotrichoanal syndrome [RCV000382431] Chr9:14735612 [GRCh38]
Chr9:14735610 [GRCh37]
Chr9:9p22.3
benign|likely benign
NM_001379081.2(FREM1):c.3872C>G (p.Thr1291Ser) single nucleotide variant Oculotrichoanal syndrome [RCV000405010] Chr9:14792852 [GRCh38]
Chr9:14792850 [GRCh37]
Chr9:9p22.3
uncertain significance
NM_144966.5(FREM1):c.*1700T>C single nucleotide variant Oculotrichoanal syndrome [RCV000333926] Chr9:14735696 [GRCh38]
Chr9:14735694 [GRCh37]
Chr9:9p22.3
benign
null single nucleotide variant Oculotrichoanal syndrome [RCV000334885]|not provided [RCV001692072] Chr9:14797518 [GRCh38]
Chr9:14797516 [GRCh37]
Chr9:9p22.3
benign|likely benign
NM_001379081.2(FREM1):c.6104G>A (p.Gly2035Glu) single nucleotide variant Oculotrichoanal syndrome [RCV000357493] Chr9:14746957 [GRCh38]
Chr9:14746955 [GRCh37]
Chr9:9p22.3
uncertain significance
NM_001379081.2(FREM1):c.2113A>G (p.Ser705Gly) single nucleotide variant Oculotrichoanal syndrome [RCV000357222] Chr9:14824081 [GRCh38]
Chr9:14824079 [GRCh37]
Chr9:9p22.3
uncertain significance
NM_144966.5(FREM1):c.*1865T>C single nucleotide variant Oculotrichoanal syndrome [RCV000358255] Chr9:14735531 [GRCh38]
Chr9:14735529 [GRCh37]
Chr9:9p22.3
benign
NM_144966.5(FREM1):c.2796C>T (p.Arg932=) single nucleotide variant Oculotrichoanal syndrome [RCV000261621]|not provided [RCV000888121] Chr9:14812909 [GRCh38]
Chr9:14812907 [GRCh37]
Chr9:9p22.3
benign|likely benign|uncertain significance
NM_144966.5(FREM1):c.*758T>A single nucleotide variant Oculotrichoanal syndrome [RCV000277204] Chr9:14736638 [GRCh38]
Chr9:14736636 [GRCh37]
Chr9:9p22.3
benign|likely benign
NM_144966.5(FREM1):c.*1465G>A single nucleotide variant Oculotrichoanal syndrome [RCV000294116] Chr9:14735931 [GRCh38]
Chr9:14735929 [GRCh37]
Chr9:9p22.3
benign|likely benign
NM_144966.5(FREM1):c.*1299A>G single nucleotide variant Oculotrichoanal syndrome [RCV000335855] Chr9:14736097 [GRCh38]
Chr9:14736095 [GRCh37]
Chr9:9p22.3
benign|uncertain significance
NM_001379081.2(FREM1):c.-166G>A single nucleotide variant Oculotrichoanal syndrome [RCV000359786] Chr9:14869143 [GRCh38]
Chr9:14869141 [GRCh37]
Chr9:9p22.3
uncertain significance
NM_144966.5(FREM1):c.*2341A>G single nucleotide variant Oculotrichoanal syndrome [RCV000295715] Chr9:14735055 [GRCh38]
Chr9:14735053 [GRCh37]
Chr9:9p22.3
benign
NM_001379081.2(FREM1):c.273T>C (p.Tyr91=) single nucleotide variant Oculotrichoanal syndrome [RCV000295784]|not provided [RCV000972789] Chr9:14863865 [GRCh38]
Chr9:14863863 [GRCh37]
Chr9:9p22.3
benign|likely benign
NM_139279.6(MCFD2):c.249del (p.Asp83fs) single nucleotide variant Oculotrichoanal syndrome [RCV000315080]|not provided [RCV001613226] Chr9:14823220 [GRCh38]
Chr9:14823218 [GRCh37]
Chr9:9p22.3
benign|likely benign
NM_144966.5(FREM1):c.45G>T (p.Leu15=) single nucleotide variant Oculotrichoanal syndrome [RCV000337907]|not provided [RCV000972790] Chr9:14868933 [GRCh38]
Chr9:14868931 [GRCh37]
Chr9:9p22.3
benign|likely benign
NM_144966.5(FREM1):c.*2461C>A single nucleotide variant Oculotrichoanal syndrome [RCV000386263] Chr9:14734935 [GRCh38]
Chr9:14734933 [GRCh37]
Chr9:9p22.3
likely benign|uncertain significance
NM_001379081.2(FREM1):c.100G>T (p.Val34Leu) single nucleotide variant BNAR syndrome [RCV001331735]|Oculotrichoanal syndrome [RCV000386513] Chr9:14868878 [GRCh38]
Chr9:14868876 [GRCh37]
Chr9:9p22.3
uncertain significance
NM_144966.5(FREM1):c.*529C>T single nucleotide variant Oculotrichoanal syndrome [RCV000386849] Chr9:14736867 [GRCh38]
Chr9:14736865 [GRCh37]
Chr9:9p22.3
benign|likely benign
NM_144966.5(FREM1):c.2818A>G (p.Arg940Gly) single nucleotide variant Oculotrichoanal syndrome [RCV000386453] Chr9:14812887 [GRCh38]
Chr9:14812885 [GRCh37]
Chr9:9p22.3
uncertain significance
NM_144966.5(FREM1):c.3840-3C>T single nucleotide variant Oculotrichoanal syndrome [RCV000279938] Chr9:14792887 [GRCh38]
Chr9:14792885 [GRCh37]
Chr9:9p22.3
uncertain significance
NM_018075.5(ANO10):c.1954A>G (p.Met652Val) single nucleotide variant Oculotrichoanal syndrome [RCV000280241]|not provided [RCV001653758] Chr9:14868986 [GRCh38]
Chr9:14868984 [GRCh37]
Chr9:9p22.3
benign|likely benign
NM_001379081.2(FREM1):c.4377T>C (p.Asp1459=) single nucleotide variant Oculotrichoanal syndrome [RCV000296191]|not provided [RCV000888120] Chr9:14784435 [GRCh38]
Chr9:14784433 [GRCh37]
Chr9:9p22.3
benign|uncertain significance
NM_144966.5(FREM1):c.3904A>G (p.Ile1302Val) single nucleotide variant Oculotrichoanal syndrome [RCV000338235] Chr9:14792820 [GRCh38]
Chr9:14792818 [GRCh37]
Chr9:9p22.3
uncertain significance
NM_144966.5(FREM1):c.*2207G>A single nucleotide variant Oculotrichoanal syndrome [RCV000361852] Chr9:14735189 [GRCh38]
Chr9:14735187 [GRCh37]
Chr9:9p22.3
benign|likely benign
NM_144966.5(FREM1):c.324T>A (p.Leu108=) single nucleotide variant Oculotrichoanal syndrome [RCV000387840] Chr9:14863814 [GRCh38]
Chr9:14863812 [GRCh37]
Chr9:9p22.3
uncertain significance
NM_001379081.2(FREM1):c.4711G>A (p.Asp1571Asn) single nucleotide variant Oculotrichoanal syndrome [RCV000265226]|not provided [RCV000903477]|not specified [RCV000597906] Chr9:14775935 [GRCh38]
Chr9:14775933 [GRCh37]
Chr9:9p22.3
benign|likely benign|uncertain significance
NM_144966.5(FREM1):c.70A>G (p.Thr24Ala) single nucleotide variant Oculotrichoanal syndrome [RCV000280385] Chr9:14868908 [GRCh38]
Chr9:14868906 [GRCh37]
Chr9:9p22.3
uncertain significance
NM_144966.5(FREM1):c.*1376G>T single nucleotide variant Oculotrichoanal syndrome [RCV000280787] Chr9:14736020 [GRCh38]
Chr9:14736018 [GRCh37]
Chr9:9p22.3
benign|uncertain significance
NM_144966.5(FREM1):c.*2664A>G single nucleotide variant Oculotrichoanal syndrome [RCV000281311] Chr9:14734732 [GRCh38]
Chr9:14734730 [GRCh37]
Chr9:9p22.3
likely benign|uncertain significance
NM_144966.5(FREM1):c.*2229C>T single nucleotide variant Oculotrichoanal syndrome [RCV000297786] Chr9:14735167 [GRCh38]
Chr9:14735165 [GRCh37]
Chr9:9p22.3
benign|uncertain significance
NM_001379081.2(FREM1):c.2795G>A (p.Arg932His) single nucleotide variant Oculotrichoanal syndrome [RCV000316684] Chr9:14812910 [GRCh38]
Chr9:14812908 [GRCh37]
Chr9:9p22.3
uncertain significance
NM_144966.5(FREM1):c.553C>T (p.His185Tyr) single nucleotide variant Oculotrichoanal syndrome [RCV000265857] Chr9:14859261 [GRCh38]
Chr9:14859259 [GRCh37]
Chr9:9p22.3
uncertain significance
NM_018075.5(ANO10):c.1954A>G (p.Met652Val) single nucleotide variant Oculotrichoanal syndrome [RCV000299508]|not provided [RCV001653756]|not specified [RCV001528323] Chr9:14775781 [GRCh38]
Chr9:14775779 [GRCh37]
Chr9:9p22.3
benign
NM_001379081.2(FREM1):c.5956C>T (p.Leu1986=) single nucleotide variant Oculotrichoanal syndrome [RCV000317894] Chr9:14747317 [GRCh38]
Chr9:14747315 [GRCh37]
Chr9:9p22.3
uncertain significance
NM_144966.5(FREM1):c.3708G>A (p.Thr1236=) single nucleotide variant Oculotrichoanal syndrome [RCV000340827]|not provided [RCV000961903] Chr9:14797629 [GRCh38]
Chr9:14797627 [GRCh37]
Chr9:9p22.3
benign|likely benign
NM_001379081.2(FREM1):c.3606C>G (p.Ser1202Arg) single nucleotide variant Oculotrichoanal syndrome [RCV000365316]|not provided [RCV001683450] Chr9:14801740 [GRCh38]
Chr9:14801738 [GRCh37]
Chr9:9p22.3
benign
NM_001379081.2(FREM1):c.4552G>T (p.Ala1518Ser) single nucleotide variant Oculotrichoanal syndrome [RCV000365627]|not provided [RCV001358636] Chr9:14776094 [GRCh38]
Chr9:14776092 [GRCh37]
Chr9:9p22.3
uncertain significance
NM_144966.5(FREM1):c.*1031G>T single nucleotide variant Oculotrichoanal syndrome [RCV000366146] Chr9:14736365 [GRCh38]
Chr9:14736363 [GRCh37]
Chr9:9p22.3
uncertain significance
NM_001379081.2(FREM1):c.533C>T (p.Ala178Val) single nucleotide variant Oculotrichoanal syndrome [RCV000366397] Chr9:14859281 [GRCh38]
Chr9:14859279 [GRCh37]
Chr9:9p22.3
uncertain significance
NM_001379081.2(FREM1):c.2169+11A>C single nucleotide variant Oculotrichoanal syndrome [RCV000299990]|not provided [RCV000513941] Chr9:14824014 [GRCh38]
Chr9:14824012 [GRCh37]
Chr9:9p22.3
likely benign|uncertain significance
NM_001379081.2(FREM1):c.*229C>T single nucleotide variant Oculotrichoanal syndrome [RCV000343205] Chr9:14737167 [GRCh38]
Chr9:14737165 [GRCh37]
Chr9:9p22.3
uncertain significance
NM_001379081.2(FREM1):c.2641-10C>T single nucleotide variant Oculotrichoanal syndrome [RCV000343516] Chr9:14813074 [GRCh38]
Chr9:14813072 [GRCh37]
Chr9:9p22.3
benign|likely benign
NM_144966.5(FREM1):c.3802G>T (p.Val1268Phe) single nucleotide variant Oculotrichoanal syndrome [RCV000393222]|not provided [RCV000895794] Chr9:14797535 [GRCh38]
Chr9:14797533 [GRCh37]
Chr9:9p22.3
likely benign|uncertain significance
NM_144966.5(FREM1):c.241G>A (p.Asp81Asn) single nucleotide variant not provided [RCV000271171] Chr9:14863897 [GRCh38]
Chr9:14863895 [GRCh37]
Chr9:9p22.3
uncertain significance
NM_001379081.2(FREM1):c.3932T>C (p.Ile1311Thr) single nucleotide variant Oculotrichoanal syndrome [RCV001166083]|not provided [RCV000372255] Chr9:14792792 [GRCh38]
Chr9:14792790 [GRCh37]
Chr9:9p22.3
likely benign|uncertain significance
NM_144966.5(FREM1):c.292A>G (p.Ile98Val) single nucleotide variant not provided [RCV000340588] Chr9:14863846 [GRCh38]
Chr9:14863844 [GRCh37]
Chr9:9p22.3
uncertain significance
NM_144966.5(FREM1):c.*1823_*1824del deletion Oculotrichoanal syndrome [RCV000272833] Chr9:14735572..14735573 [GRCh38]
Chr9:14735570..14735571 [GRCh37]
Chr9:9p22.3
uncertain significance
NM_001379081.2(FREM1):c.6021C>G (p.Pro2007=) single nucleotide variant not provided [RCV000349900] Chr9:14747040 [GRCh38]
Chr9:14747038 [GRCh37]
Chr9:9p22.3
uncertain significance
NM_144966.5(FREM1):c.6086A>G (p.Lys2029Arg) single nucleotide variant Oculotrichoanal syndrome [RCV000262616] Chr9:14746975 [GRCh38]
Chr9:14746973 [GRCh37]
Chr9:9p22.3
uncertain significance
NM_001379081.2(FREM1):c.5335-8dup duplication Oculotrichoanal syndrome [RCV000329084]|not provided [RCV000879232] Chr9:14756453..14756454 [GRCh38]
Chr9:14756451..14756452 [GRCh37]
Chr9:9p22.3
benign|likely benign
NM_144966.5(FREM1):c.*456G>A single nucleotide variant Oculotrichoanal syndrome [RCV000263433] Chr9:14736940 [GRCh38]
Chr9:14736938 [GRCh37]
Chr9:9p22.3
uncertain significance
NM_144966.5(FREM1):c.*854_*855dup duplication Oculotrichoanal syndrome [RCV000362446] Chr9:14736540..14736541 [GRCh38]
Chr9:14736538..14736539 [GRCh37]
Chr9:9p22.3
uncertain significance
NM_144966.5(FREM1):c.*1388dup duplication Oculotrichoanal syndrome [RCV000375185] Chr9:14736007..14736008 [GRCh38]
Chr9:14736005..14736006 [GRCh37]
Chr9:9p22.3
likely benign
NM_001379081.2(FREM1):c.3857T>G (p.Met1286Arg) single nucleotide variant not provided [RCV000355057] Chr9:14792867 [GRCh38]
Chr9:14792865 [GRCh37]
Chr9:9p22.3
uncertain significance
NM_001379081.2(FREM1):c.382C>G (p.Leu128Val) single nucleotide variant not provided [RCV000400951] Chr9:14859432 [GRCh38]
Chr9:14859430 [GRCh37]
Chr9:9p22.3
uncertain significance
NM_144966.5(FREM1):c.*341dup duplication Oculotrichoanal syndrome [RCV000278673] Chr9:14737054..14737055 [GRCh38]
Chr9:14737052..14737053 [GRCh37]
Chr9:9p22.3
uncertain significance
NM_001379081.2(FREM1):c.3471+9C>T single nucleotide variant Oculotrichoanal syndrome [RCV001168302]|not provided [RCV000300422] Chr9:14804947 [GRCh38]
Chr9:14804945 [GRCh37]
Chr9:9p22.3
uncertain significance
NM_144966.5(FREM1):c.*1772C>T single nucleotide variant Oculotrichoanal syndrome [RCV000269458] Chr9:14735624 [GRCh38]
Chr9:14735622 [GRCh37]
Chr9:9p22.3
uncertain significance
NM_001379081.2(FREM1):c.939del (p.Ser314fs) deletion not provided [RCV000722660] Chr9:14851497 [GRCh38]
Chr9:14851495 [GRCh37]
Chr9:9p22.3
uncertain significance
NM_001379081.2(FREM1):c.578C>G (p.Pro193Arg) single nucleotide variant Oculotrichoanal syndrome [RCV000764828]|not provided [RCV000487534] Chr9:14859236 [GRCh38]
Chr9:14859234 [GRCh37]
Chr9:9p22.3
uncertain significance
NM_001379081.2(FREM1):c.5205-1G>T single nucleotide variant not provided [RCV000488096] Chr9:14759902 [GRCh38]
Chr9:14759900 [GRCh37]
Chr9:9p22.3
likely pathogenic
NM_144966.5(FREM1):c.*1258G>A single nucleotide variant Oculotrichoanal syndrome [RCV000399056] Chr9:14736138 [GRCh38]
Chr9:14736136 [GRCh37]
Chr9:9p22.3
uncertain significance
NM_144966.5(FREM1):c.*2069G>A single nucleotide variant Oculotrichoanal syndrome [RCV000303706] Chr9:14735327 [GRCh38]
Chr9:14735325 [GRCh37]
Chr9:9p22.3
uncertain significance
NM_001379081.2(FREM1):c.-285A>G single nucleotide variant Oculotrichoanal syndrome [RCV000363148] Chr9:14909931 [GRCh38]
Chr9:14909929 [GRCh37]
Chr9:9p22.3
uncertain significance
NM_144966.5(FREM1):c.*2704A>C single nucleotide variant Oculotrichoanal syndrome [RCV000316343] Chr9:14734692 [GRCh38]
Chr9:14734690 [GRCh37]
Chr9:9p22.3
uncertain significance
NM_144966.7(FREM1):c.-770C>T single nucleotide variant Oculotrichoanal syndrome [RCV000331493] Chr9:14910949 [GRCh38]
Chr9:14910947 [GRCh37]
Chr9:9p22.3
uncertain significance
NM_001379081.2(FREM1):c.2079-7T>C single nucleotide variant Oculotrichoanal syndrome [RCV000317024] Chr9:14824122 [GRCh38]
Chr9:14824120 [GRCh37]
Chr9:9p22.3
uncertain significance
NM_144966.5(FREM1):c.*2437A>G single nucleotide variant Oculotrichoanal syndrome [RCV000294283] Chr9:14734959 [GRCh38]
Chr9:14734957 [GRCh37]
Chr9:9p22.3
uncertain significance
NM_144966.5(FREM1):c.*437A>G single nucleotide variant Oculotrichoanal syndrome [RCV000318576] Chr9:14736959 [GRCh38]
Chr9:14736957 [GRCh37]
Chr9:9p22.3
uncertain significance
NM_144966.5(FREM1):c.*1394A>T single nucleotide variant Oculotrichoanal syndrome [RCV000348564] Chr9:14736002 [GRCh38]
Chr9:14736000 [GRCh37]
Chr9:9p22.3
uncertain significance
NM_001379081.2(FREM1):c.4923C>T (p.Leu1641=) single nucleotide variant Oculotrichoanal syndrome [RCV000295262] Chr9:14770741 [GRCh38]
Chr9:14770739 [GRCh37]
Chr9:9p22.3
uncertain significance
NM_144966.5(FREM1):c.4001C>A (p.Pro1334His) single nucleotide variant Oculotrichoanal syndrome [RCV000386765] Chr9:14789095 [GRCh38]
Chr9:14789093 [GRCh37]
Chr9:9p22.3
uncertain significance
NM_144966.5(FREM1):c.*2553_*2556del deletion Oculotrichoanal syndrome [RCV000319959] Chr9:14734840..14734843 [GRCh38]
Chr9:14734838..14734841 [GRCh37]
Chr9:9p22.3
uncertain significance
NM_144966.5(FREM1):c.*1558C>G single nucleotide variant Oculotrichoanal syndrome [RCV000388368] Chr9:14735838 [GRCh38]
Chr9:14735836 [GRCh37]
Chr9:9p22.3
uncertain significance
NM_001379081.2(FREM1):c.3513C>G (p.Ile1171Met) single nucleotide variant not provided [RCV000597805] Chr9:14801833 [GRCh38]
Chr9:14801831 [GRCh37]
Chr9:9p22.3
uncertain significance
NM_144966.5(FREM1):c.*55G>T single nucleotide variant Oculotrichoanal syndrome [RCV000339751] Chr9:14737341 [GRCh38]
Chr9:14737339 [GRCh37]
Chr9:9p22.3
uncertain significance
NM_144966.5(FREM1):c.*1209C>T single nucleotide variant Oculotrichoanal syndrome [RCV000341294] Chr9:14736187 [GRCh38]
Chr9:14736185 [GRCh37]
Chr9:9p22.3
uncertain significance
NM_001379081.2(FREM1):c.5222C>T (p.Ser1741Phe) single nucleotide variant Oculotrichoanal syndrome [RCV000289188] Chr9:14759884 [GRCh38]
Chr9:14759882 [GRCh37]
Chr9:9p22.3
uncertain significance
NM_001379081.2(FREM1):c.884C>T (p.Pro295Leu) single nucleotide variant Oculotrichoanal syndrome [RCV000300876] Chr9:14851552 [GRCh38]
Chr9:14851550 [GRCh37]
Chr9:9p22.3
uncertain significance
NM_144966.5(FREM1):c.-60A>T single nucleotide variant Oculotrichoanal syndrome [RCV000342318] Chr9:14869037 [GRCh38]
Chr9:14869035 [GRCh37]
Chr9:9p22.3
uncertain significance
NM_001379081.2(FREM1):c.605A>G (p.Gln202Arg) single nucleotide variant Oculotrichoanal syndrome [RCV000358160] Chr9:14859209 [GRCh38]
Chr9:14859207 [GRCh37]
Chr9:9p22.3
uncertain significance
NM_001379081.2(FREM1):c.2640+4G>A single nucleotide variant Oculotrichoanal syndrome [RCV000376911] Chr9:14816774 [GRCh38]
Chr9:14816772 [GRCh37]
Chr9:9p22.3
uncertain significance
NM_144966.5(FREM1):c.6454G>A (p.Val2152Ile) single nucleotide variant Oculotrichoanal syndrome [RCV000395992] Chr9:14737482 [GRCh38]
Chr9:14737480 [GRCh37]
Chr9:9p22.3
uncertain significance
NM_144966.5(FREM1):c.*1205T>C single nucleotide variant Oculotrichoanal syndrome [RCV000398257] Chr9:14736191 [GRCh38]
Chr9:14736189 [GRCh37]
Chr9:9p22.3
uncertain significance
NM_001379081.2(FREM1):c.3925del (p.Glu1309fs) deletion not provided [RCV000598858] Chr9:14792799 [GRCh38]
Chr9:14792797 [GRCh37]
Chr9:9p22.3
pathogenic
NM_001379081.2(FREM1):c.4941C>A (p.Tyr1647Ter) single nucleotide variant not provided [RCV000733533] Chr9:14770723 [GRCh38]
Chr9:14770721 [GRCh37]
Chr9:9p22.3
pathogenic
NM_001379081.2(FREM1):c.4468_4469insG (p.Thr1490fs) insertion not provided [RCV000723016] Chr9:14776177..14776178 [GRCh38]
Chr9:14776175..14776176 [GRCh37]
Chr9:9p22.3
uncertain significance
GRCh37/hg19 9p24.3-q13(chr9:203861-68188391)x4 copy number gain See cases [RCV000449165] Chr9:203861..68188391 [GRCh37]
Chr9:9p24.3-q13
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain See cases [RCV000447207] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-22.3(chr9:203861-15211277)x1 copy number loss See cases [RCV000446597] Chr9:203861..15211277 [GRCh37]
Chr9:9p24.3-22.3
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:32396-39140211) copy number gain See cases [RCV000447246] Chr9:32396..39140211 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 copy number gain See cases [RCV000446521] Chr9:203861..67983174 [GRCh37]
Chr9:9p24.3-q13
pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:203861-16925108)x1 copy number loss See cases [RCV000447415] Chr9:203861..16925108 [GRCh37]
Chr9:9p24.3-22.2
pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:203861-16670878)x1 copy number loss See cases [RCV000446566] Chr9:203861..16670878 [GRCh37]
Chr9:9p24.3-22.2
pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:203861-16856907)x1 copy number loss See cases [RCV000445963] Chr9:203861..16856907 [GRCh37]
Chr9:9p24.3-22.2
pathogenic
NM_001379081.2(FREM1):c.5622G>C (p.Trp1874Cys) single nucleotide variant not provided [RCV000731490]|not specified [RCV000424842] Chr9:14748575 [GRCh38]
Chr9:14748573 [GRCh37]
Chr9:9p22.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001379081.2(FREM1):c.454C>T (p.Gln152Ter) single nucleotide variant not provided [RCV000429460] Chr9:14859360 [GRCh38]
Chr9:14859358 [GRCh37]
Chr9:9p22.3
likely pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:213161-17496750)x1 copy number loss See cases [RCV000445998] Chr9:213161..17496750 [GRCh37]
Chr9:9p24.3-22.2
pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)x3 copy number gain See cases [RCV000448569] Chr9:203861..69002883 [GRCh37]
Chr9:9p24.3-q21.11
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:13997-70919878)x4 copy number gain See cases [RCV000448242] Chr9:13997..70919878 [GRCh37]
Chr9:9p24.3-q21.11
pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:203861-17125893)x1 copy number loss See cases [RCV000512122] Chr9:203861..17125893 [GRCh37]
Chr9:9p24.3-22.2
pathogenic
GRCh37/hg19 9p24.2-22.3(chr9:4581369-14848338)x1 copy number loss See cases [RCV000510332] Chr9:4581369..14848338 [GRCh37]
Chr9:9p24.2-22.3
pathogenic
GRCh37/hg19 9p24.1-21.1(chr9:5900425-30008330)x3 copy number gain See cases [RCV000510425] Chr9:5900425..30008330 [GRCh37]
Chr9:9p24.1-21.1
pathogenic
NM_144966.5(FREM1):c.3910G>T (p.Glu1304Ter) single nucleotide variant not provided [RCV000494530] Chr9:14792814 [GRCh38]
Chr9:14792812 [GRCh37]
Chr9:9p22.3
pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:203861-17655298)x1 copy number loss See cases [RCV000510944] Chr9:203861..17655298 [GRCh37]
Chr9:9p24.3-22.2
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 copy number gain See cases [RCV000510864] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-11.2(chr9:204193-44259464)x4 copy number gain Syndromic hydrocephalus due to diffuse villous hyperplasia of choroid plexus [RCV000677299] Chr9:204193..44259464 [GRCh37]
Chr9:9p24.3-11.2
likely pathogenic
GRCh37/hg19 9p23-21.2(chr9:10320113-26205565)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626433] Chr9:10320113..26205565 [GRCh37]
Chr9:9p23-21.2
drug response
GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3 copy number gain See cases [RCV000512431] Chr9:203861..88189913 [GRCh37]
Chr9:9p24.3-q21.33
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_001379081.2(FREM1):c.5155G>A (p.Val1719Met) single nucleotide variant Oculotrichoanal syndrome [RCV001168921]|not provided [RCV000595555] Chr9:14769773 [GRCh38]
Chr9:14769771 [GRCh37]
Chr9:9p22.3
uncertain significance
GRCh37/hg19 9p23-22.2(chr9:14178768-16619009)x1 copy number loss Intellectual disability [RCV000681561] Chr9:14178768..16619009 [GRCh37]
Chr9:9p23-22.2
pathogenic
GRCh37/hg19 9p23-22.2(chr9:13563537-18491752)x1 copy number loss Turricephaly [RCV000681562] Chr9:13563537..18491752 [GRCh37]
Chr9:9p23-22.2
pathogenic