IQCN (IQ motif containing N) - Rat Genome Database

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Gene: IQCN (IQ motif containing N) Homo sapiens
Analyze
Symbol: IQCN
Name: IQ motif containing N
RGD ID: 1353790
HGNC Page HGNC:29350
Description: Involved in spermatid development. Located in mitochondrion. Implicated in spermatogenic failure 78.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: IQ domain-containing protein N; KIAA1683; MGC131731; SPGF78; uncharacterized protein KIAA1683
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381918,257,098 - 18,274,452 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1918,257,098 - 18,274,500 (-)EnsemblGRCh38hg38GRCh38
GRCh371918,367,908 - 18,385,262 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361918,228,908 - 18,246,235 (-)NCBINCBI36Build 36hg18NCBI36
Build 341918,228,907 - 18,246,235NCBI
Celera1918,269,630 - 18,287,045 (-)NCBICelera
Cytogenetic Map19p13.11NCBI
HuRef1917,931,567 - 17,948,982 (-)NCBIHuRef
CHM1_11918,368,170 - 18,385,585 (-)NCBICHM1_1
T2T-CHM13v2.01918,391,196 - 18,408,552 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

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

Biological Process

Cellular Component
mitochondrion  (IDA)
nucleus  (HDA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:11076863   PMID:11214970   PMID:11230166   PMID:11256614   PMID:12477932   PMID:14702039   PMID:15302935   PMID:15489334   PMID:15489336   PMID:16189514   PMID:16344560   PMID:16381901  
PMID:20379614   PMID:20800603   PMID:21516116   PMID:21630459   PMID:21873635   PMID:25416956   PMID:27107014   PMID:28514442   PMID:28611215   PMID:28986522   PMID:30575818   PMID:30631154  
PMID:32296183   PMID:32393512   PMID:33961781   PMID:36321563   PMID:37140151   PMID:37184908   PMID:38113892  


Genomics

Comparative Map Data
IQCN
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381918,257,098 - 18,274,452 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1918,257,098 - 18,274,500 (-)EnsemblGRCh38hg38GRCh38
GRCh371918,367,908 - 18,385,262 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361918,228,908 - 18,246,235 (-)NCBINCBI36Build 36hg18NCBI36
Build 341918,228,907 - 18,246,235NCBI
Celera1918,269,630 - 18,287,045 (-)NCBICelera
Cytogenetic Map19p13.11NCBI
HuRef1917,931,567 - 17,948,982 (-)NCBIHuRef
CHM1_11918,368,170 - 18,385,585 (-)NCBICHM1_1
T2T-CHM13v2.01918,391,196 - 18,408,552 (-)NCBIT2T-CHM13v2.0
Iqcn
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39871,154,661 - 71,170,299 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl871,156,106 - 71,170,299 (+)EnsemblGRCm39 Ensembl
GRCm38870,701,321 - 70,717,650 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl870,703,457 - 70,717,650 (+)EnsemblGRCm38mm10GRCm38
MGSCv37873,232,059 - 73,241,549 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36873,637,149 - 73,651,080 (+)NCBIMGSCv36mm8
Celera873,264,658 - 73,274,148 (+)NCBICelera
Cytogenetic Map8B3.3NCBI
cM Map834.15NCBI
Iqcn
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81618,750,492 - 18,766,184 (-)NCBIGRCr8
mRatBN7.21618,716,519 - 18,733,971 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1618,716,519 - 18,726,261 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1618,758,451 - 18,773,053 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01619,891,390 - 19,906,139 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01618,811,400 - 18,826,003 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01620,467,425 - 20,483,375 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01620,324,493 - 20,339,412 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41619,222,176 - 19,223,162 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1618,908,707 - 18,924,642 (-)NCBICelera
Cytogenetic Map16p14NCBI
Iqcn
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049555243,181,133 - 3,195,111 (+)NCBIChiLan1.0ChiLan1.0
IQCN
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22023,114,554 - 23,132,163 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11922,122,872 - 22,140,388 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01917,732,673 - 17,750,226 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11918,708,154 - 18,719,269 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1918,708,155 - 18,719,021 (-)Ensemblpanpan1.1panPan2
IQCN
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12044,743,889 - 44,758,625 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2044,745,584 - 44,758,637 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2044,658,051 - 44,672,793 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02045,229,714 - 45,244,539 (+)NCBIROS_Cfam_1.0
UMICH_Zoey_3.12044,466,869 - 44,481,627 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02044,877,601 - 44,892,330 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02045,152,767 - 45,167,506 (+)NCBIUU_Cfam_GSD_1.0
Iqcn
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118203,393,995 - 203,406,713 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365962,944,534 - 2,955,765 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
IQCN
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1259,545,325 - 59,558,077 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
IQCN
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1616,732,296 - 16,745,050 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_0236660742,632,811 - 2,643,498 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Iqcn
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046249081,558,560 - 1,583,275 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in IQCN
137 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3 copy number gain See cases [RCV000050635] Chr19:17176767..34924150 [GRCh38]
Chr19:17287576..35415054 [GRCh37]
Chr19:17148576..40106894 [NCBI36]
Chr19:19p13.11-q13.11		 pathogenic
GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3 copy number gain See cases [RCV000052912] Chr19:13974677..27839676 [GRCh38]
Chr19:14085489..28330584 [GRCh37]
Chr19:13946489..33022424 [NCBI36]
Chr19:19p13.12-q11		 pathogenic
GRCh38/hg38 19p13.11(chr19:17922234-18463153)x1 copy number loss See cases [RCV000053946] Chr19:17922234..18463153 [GRCh38]
Chr19:18033043..18573963 [GRCh37]
Chr19:17894043..18434963 [NCBI36]
Chr19:19p13.11		 pathogenic
GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3 copy number gain See cases [RCV000133888] Chr19:11227942..44626354 [GRCh38]
Chr19:11338618..45129651 [GRCh37]
Chr19:11199618..49821491 [NCBI36]
Chr19:19p13.2-q13.31		 pathogenic
GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3 copy number gain See cases [RCV000136696] Chr19:15133594..24193591 [GRCh38]
Chr19:15244405..24376393 [GRCh37]
Chr19:15105405..24168233 [NCBI36]
Chr19:19p13.12-12		 pathogenic|likely pathogenic
GRCh38/hg38 19p13.11(chr19:18133970-18424117)x1 copy number loss See cases [RCV000142944] Chr19:18133970..18424117 [GRCh38]
Chr19:18244780..18534927 [GRCh37]
Chr19:18105780..18395927 [NCBI36]
Chr19:19p13.11		 uncertain significance
GRCh37/hg19 19p13.11-11(chr19:16526787-24631604)x3 copy number gain not provided [RCV000752593] Chr19:16526787..24631604 [GRCh37]
Chr19:19p13.11-11		 pathogenic
NM_001145304.2(IQCN):c.292G>A (p.Glu98Lys) single nucleotide variant not specified [RCV004288355] Chr19:18267248 [GRCh38]
Chr19:18378058 [GRCh37]
Chr19:19p13.11		 uncertain significance
GRCh37/hg19 19p13.11(chr19:18136482-19087534)x3 copy number gain See cases [RCV000449006] Chr19:18136482..19087534 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.452C>T (p.Ser151Leu) single nucleotide variant not specified [RCV004292240] Chr19:18267088 [GRCh38]
Chr19:18377898 [GRCh37]
Chr19:19p13.11		 likely benign
NM_001145304.2(IQCN):c.3460C>G (p.Arg1154Gly) single nucleotide variant not specified [RCV004322419] Chr19:18257824 [GRCh38]
Chr19:18368634 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.2330G>A (p.Gly777Glu) single nucleotide variant not specified [RCV004286711] Chr19:18265210 [GRCh38]
Chr19:18376020 [GRCh37]
Chr19:19p13.11		 uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic|uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
NM_001145304.2(IQCN):c.1234A>C (p.Thr412Pro) single nucleotide variant not specified [RCV004281771] Chr19:18266306 [GRCh38]
Chr19:18377116 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.176T>A (p.Leu59His) single nucleotide variant not specified [RCV004293493] Chr19:18267364 [GRCh38]
Chr19:18378174 [GRCh37]
Chr19:19p13.11		 uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.11(chr19:18332984-18540644)x3 copy number gain not provided [RCV000740067] Chr19:18332984..18540644 [GRCh37]
Chr19:19p13.11		 benign
GRCh37/hg19 19p13.11(chr19:18368181-18375763)x1 copy number loss not provided [RCV000740068] Chr19:18368181..18375763 [GRCh37]
Chr19:19p13.11		 benign
NM_001145304.2(IQCN):c.3256G>A (p.Asp1086Asn) single nucleotide variant not specified [RCV004318622] Chr19:18258028 [GRCh38]
Chr19:18368838 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.3457C>T (p.Arg1153Trp) single nucleotide variant not specified [RCV004299583] Chr19:18257827 [GRCh38]
Chr19:18368637 [GRCh37]
Chr19:19p13.11		 uncertain significance
GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3 copy number gain not provided [RCV001259370] Chr19:14286624..20956753 [GRCh37]
Chr19:19p13.12-12		 pathogenic
GRCh37/hg19 19p13.11(chr19:18327675-18543341) copy number gain not specified [RCV002052677] Chr19:18327675..18543341 [GRCh37]
Chr19:19p13.11		 uncertain significance
NC_000019.9:g.(?_17927663)_(19312528_?)dup duplication Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV003116292] Chr19:17927663..19312528 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.3760C>T (p.Arg1254Cys) single nucleotide variant not specified [RCV004292783] Chr19:18257524 [GRCh38]
Chr19:18368334 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.407C>T (p.Ala136Val) single nucleotide variant not specified [RCV004309280] Chr19:18267133 [GRCh38]
Chr19:18377943 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.1483A>G (p.Thr495Ala) single nucleotide variant not specified [RCV004304417] Chr19:18266057 [GRCh38]
Chr19:18376867 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.2245A>G (p.Ile749Val) single nucleotide variant not specified [RCV004273531] Chr19:18265295 [GRCh38]
Chr19:18376105 [GRCh37]
Chr19:19p13.11		 likely benign
NM_001145304.2(IQCN):c.1073C>T (p.Thr358Met) single nucleotide variant not specified [RCV004264679] Chr19:18266467 [GRCh38]
Chr19:18377277 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.296T>C (p.Met99Thr) single nucleotide variant not specified [RCV004261174] Chr19:18267244 [GRCh38]
Chr19:18378054 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.1748T>A (p.Leu583Gln) single nucleotide variant not specified [RCV004267035] Chr19:18265792 [GRCh38]
Chr19:18376602 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.3307A>G (p.Met1103Val) single nucleotide variant not specified [RCV004260847] Chr19:18257977 [GRCh38]
Chr19:18368787 [GRCh37]
Chr19:19p13.11		 likely benign
NM_001145304.2(IQCN):c.1847C>G (p.Thr616Arg) single nucleotide variant not specified [RCV004249431] Chr19:18265693 [GRCh38]
Chr19:18376503 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.3461G>A (p.Arg1154Gln) single nucleotide variant not specified [RCV004249441] Chr19:18257823 [GRCh38]
Chr19:18368633 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.1297C>G (p.Leu433Val) single nucleotide variant not specified [RCV004269770] Chr19:18266243 [GRCh38]
Chr19:18377053 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.1025C>T (p.Thr342Ile) single nucleotide variant not specified [RCV004259675] Chr19:18266515 [GRCh38]
Chr19:18377325 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.73G>A (p.Glu25Lys) single nucleotide variant not specified [RCV004272458] Chr19:18267467 [GRCh38]
Chr19:18378277 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.3094G>T (p.Ala1032Ser) single nucleotide variant not specified [RCV004255843] Chr19:18264446 [GRCh38]
Chr19:18375256 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.3139G>T (p.Gly1047Trp) single nucleotide variant not specified [RCV004278587] Chr19:18264401 [GRCh38]
Chr19:18375211 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.3781C>T (p.Arg1261Cys) single nucleotide variant not specified [RCV004250033] Chr19:18257503 [GRCh38]
Chr19:18368313 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.2611G>T (p.Asp871Tyr) single nucleotide variant not specified [RCV004254427] Chr19:18264929 [GRCh38]
Chr19:18375739 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.2566C>G (p.Arg856Gly) single nucleotide variant not specified [RCV004254579] Chr19:18264974 [GRCh38]
Chr19:18375784 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.3137G>T (p.Trp1046Leu) single nucleotide variant not specified [RCV004278586] Chr19:18264403 [GRCh38]
Chr19:18375213 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.1976G>A (p.Arg659Gln) single nucleotide variant not specified [RCV004330768] Chr19:18265564 [GRCh38]
Chr19:18376374 [GRCh37]
Chr19:19p13.11		 likely benign
NM_001145304.2(IQCN):c.3656G>A (p.Arg1219His) single nucleotide variant not specified [RCV004323975] Chr19:18257628 [GRCh38]
Chr19:18368438 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.1605G>A (p.Ala535=) single nucleotide variant not provided [RCV003423455] Chr19:18265935 [GRCh38]
Chr19:18376745 [GRCh37]
Chr19:19p13.11		 likely benign
NM_001145304.2(IQCN):c.3725C>T (p.Pro1242Leu) single nucleotide variant not specified [RCV004335031] Chr19:18257559 [GRCh38]
Chr19:18368369 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.2453_2454del (p.Gln818fs) deletion Spermatogenic failure 78 [RCV003387498] Chr19:18265086..18265087 [GRCh38]
Chr19:18375896..18375897 [GRCh37]
Chr19:19p13.11		 pathogenic
NM_001145304.2(IQCN):c.910C>T (p.Gln304Ter) single nucleotide variant Spermatogenic failure 78 [RCV003387497] Chr19:18266630 [GRCh38]
Chr19:18377440 [GRCh37]
Chr19:19p13.11		 pathogenic|likely pathogenic
NM_001145304.2(IQCN):c.2132C>A (p.Thr711Asn) single nucleotide variant not specified [RCV004355918] Chr19:18265408 [GRCh38]
Chr19:18376218 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.2536G>A (p.Val846Ile) single nucleotide variant not specified [RCV004349804] Chr19:18265004 [GRCh38]
Chr19:18375814 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.1246C>T (p.Arg416Trp) single nucleotide variant not specified [RCV004347930] Chr19:18266294 [GRCh38]
Chr19:18377104 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.848G>A (p.Arg283His) single nucleotide variant not specified [RCV004343158] Chr19:18266692 [GRCh38]
Chr19:18377502 [GRCh37]
Chr19:19p13.11		 likely benign
NM_001145304.2(IQCN):c.511G>T (p.Val171Leu) single nucleotide variant not specified [RCV004352515] Chr19:18267029 [GRCh38]
Chr19:18377839 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.55C>T (p.Arg19Cys) single nucleotide variant not specified [RCV004337235] Chr19:18267485 [GRCh38]
Chr19:18378295 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.2225C>T (p.Thr742Met) single nucleotide variant not specified [RCV004366196] Chr19:18265315 [GRCh38]
Chr19:18376125 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.2359C>T (p.Arg787Cys) single nucleotide variant not specified [RCV004340980] Chr19:18265181 [GRCh38]
Chr19:18375991 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.3542G>A (p.Arg1181Gln) single nucleotide variant not provided [RCV003423454] Chr19:18257742 [GRCh38]
Chr19:18368552 [GRCh37]
Chr19:19p13.11		 likely benign
NM_001145304.2(IQCN):c.2718A>G (p.Glu906=) single nucleotide variant not provided [RCV003406904] Chr19:18264822 [GRCh38]
Chr19:18375632 [GRCh37]
Chr19:19p13.11		 likely benign
NM_001145304.2(IQCN):c.3030G>A (p.Arg1010=) single nucleotide variant not provided [RCV003415151] Chr19:18264510 [GRCh38]
Chr19:18375320 [GRCh37]
Chr19:19p13.11		 likely benign
NM_001145304.2(IQCN):c.3443G>A (p.Arg1148His) single nucleotide variant not specified [RCV004402957] Chr19:18257841 [GRCh38]
Chr19:18368651 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.3388C>T (p.Arg1130Cys) single nucleotide variant not specified [RCV004402956] Chr19:18257896 [GRCh38]
Chr19:18368706 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.3373C>T (p.Arg1125Cys) single nucleotide variant not specified [RCV004402955] Chr19:18257911 [GRCh38]
Chr19:18368721 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.3346G>A (p.Ala1116Thr) single nucleotide variant not specified [RCV004402954] Chr19:18257938 [GRCh38]
Chr19:18368748 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.3337C>T (p.Arg1113Cys) single nucleotide variant not specified [RCV004402953] Chr19:18257947 [GRCh38]
Chr19:18368757 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.3293G>A (p.Arg1098Gln) single nucleotide variant not specified [RCV004402952] Chr19:18257991 [GRCh38]
Chr19:18368801 [GRCh37]
Chr19:19p13.11		 likely benign
NM_001145304.2(IQCN):c.3266G>T (p.Arg1089Leu) single nucleotide variant not specified [RCV004402951] Chr19:18258018 [GRCh38]
Chr19:18368828 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.3260C>T (p.Thr1087Ile) single nucleotide variant not specified [RCV004402950] Chr19:18258024 [GRCh38]
Chr19:18368834 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.3223G>A (p.Ala1075Thr) single nucleotide variant not specified [RCV004402949] Chr19:18258061 [GRCh38]
Chr19:18368871 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.3185C>T (p.Ala1062Val) single nucleotide variant not specified [RCV004402948] Chr19:18258099 [GRCh38]
Chr19:18368909 [GRCh37]
Chr19:19p13.11		 likely benign
NM_001145304.2(IQCN):c.310G>A (p.Ala104Thr) single nucleotide variant not specified [RCV004402947] Chr19:18267230 [GRCh38]
Chr19:18378040 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.3089C>T (p.Thr1030Met) single nucleotide variant not specified [RCV004402946] Chr19:18264451 [GRCh38]
Chr19:18375261 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.3079G>T (p.Val1027Leu) single nucleotide variant not specified [RCV004402945] Chr19:18264461 [GRCh38]
Chr19:18375271 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.3059C>T (p.Ser1020Leu) single nucleotide variant not specified [RCV004402944] Chr19:18264481 [GRCh38]
Chr19:18375291 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.3055G>A (p.Ala1019Thr) single nucleotide variant not specified [RCV004402943] Chr19:18264485 [GRCh38]
Chr19:18375295 [GRCh37]
Chr19:19p13.11		 likely benign
NM_001145304.2(IQCN):c.2566C>T (p.Arg856Cys) single nucleotide variant not specified [RCV004402934] Chr19:18264974 [GRCh38]
Chr19:18375784 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.2587G>A (p.Gly863Ser) single nucleotide variant not specified [RCV004402935] Chr19:18264953 [GRCh38]
Chr19:18375763 [GRCh37]
Chr19:19p13.11		 likely benign
NM_001145304.2(IQCN):c.2702C>A (p.Ala901Asp) single nucleotide variant not specified [RCV004402936] Chr19:18264838 [GRCh38]
Chr19:18375648 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.2796G>A (p.Met932Ile) single nucleotide variant not specified [RCV004402937] Chr19:18264744 [GRCh38]
Chr19:18375554 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.3491C>T (p.Thr1164Met) single nucleotide variant not specified [RCV004402962] Chr19:18257793 [GRCh38]
Chr19:18368603 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.349T>C (p.Tyr117His) single nucleotide variant not specified [RCV004402963] Chr19:18267191 [GRCh38]
Chr19:18378001 [GRCh37]
Chr19:19p13.11		 likely benign
NM_001145304.2(IQCN):c.3511C>A (p.Arg1171Ser) single nucleotide variant not specified [RCV004402964] Chr19:18257773 [GRCh38]
Chr19:18368583 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.3561C>A (p.His1187Gln) single nucleotide variant not specified [RCV004402965] Chr19:18257723 [GRCh38]
Chr19:18368533 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.3682G>A (p.Ala1228Thr) single nucleotide variant not specified [RCV004402966] Chr19:18257602 [GRCh38]
Chr19:18368412 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.3848G>T (p.Trp1283Leu) single nucleotide variant not specified [RCV004402967] Chr19:18257436 [GRCh38]
Chr19:18368246 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.3893A>G (p.His1298Arg) single nucleotide variant not specified [RCV004402968] Chr19:18257391 [GRCh38]
Chr19:18368201 [GRCh37]
Chr19:19p13.11		 likely benign
NM_001145304.2(IQCN):c.3896G>A (p.Arg1299His) single nucleotide variant not specified [RCV004402969] Chr19:18257388 [GRCh38]
Chr19:18368198 [GRCh37]
Chr19:19p13.11		 likely benign
NM_001145304.2(IQCN):c.3488C>A (p.Thr1163Asn) single nucleotide variant not specified [RCV004402961] Chr19:18257796 [GRCh38]
Chr19:18368606 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.4021A>C (p.Ser1341Arg) single nucleotide variant not specified [RCV004402971] Chr19:18257263 [GRCh38]
Chr19:18368073 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.2998C>G (p.Leu1000Val) single nucleotide variant not specified [RCV004402942] Chr19:18264542 [GRCh38]
Chr19:18375352 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.2900T>C (p.Met967Thr) single nucleotide variant not specified [RCV004402941] Chr19:18264640 [GRCh38]
Chr19:18375450 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.2866C>T (p.Arg956Trp) single nucleotide variant not specified [RCV004402940] Chr19:18264674 [GRCh38]
Chr19:18375484 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.2840G>A (p.Arg947His) single nucleotide variant not specified [RCV004402939] Chr19:18264700 [GRCh38]
Chr19:18375510 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.2839C>T (p.Arg947Cys) single nucleotide variant not specified [RCV004402938] Chr19:18264701 [GRCh38]
Chr19:18375511 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.3977C>T (p.Ala1326Val) single nucleotide variant not specified [RCV004402970] Chr19:18257307 [GRCh38]
Chr19:18368117 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.1295C>G (p.Ser432Cys) single nucleotide variant not specified [RCV004400916] Chr19:18266245 [GRCh38]
Chr19:18377055 [GRCh37]
Chr19:19p13.11		 likely benign
NM_001145304.2(IQCN):c.1337C>T (p.Pro446Leu) single nucleotide variant not specified [RCV004400917] Chr19:18266203 [GRCh38]
Chr19:18377013 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.1000A>T (p.Met334Leu) single nucleotide variant not specified [RCV004400912] Chr19:18266540 [GRCh38]
Chr19:18377350 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.1045A>T (p.Thr349Ser) single nucleotide variant not specified [RCV004400913] Chr19:18266495 [GRCh38]
Chr19:18377305 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.1150G>A (p.Gly384Arg) single nucleotide variant not specified [RCV004400914] Chr19:18266390 [GRCh38]
Chr19:18377200 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.1247G>A (p.Arg416Gln) single nucleotide variant not specified [RCV004400915] Chr19:18266293 [GRCh38]
Chr19:18377103 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.1340G>A (p.Gly447Glu) single nucleotide variant not specified [RCV004402901] Chr19:18266200 [GRCh38]
Chr19:18377010 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.1358C>A (p.Thr453Asn) single nucleotide variant not specified [RCV004402902] Chr19:18266182 [GRCh38]
Chr19:18376992 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.1400C>T (p.Pro467Leu) single nucleotide variant not specified [RCV004402903] Chr19:18266140 [GRCh38]
Chr19:18376950 [GRCh37]
Chr19:19p13.11		 likely benign
NM_001145304.2(IQCN):c.1445A>C (p.Gln482Pro) single nucleotide variant not specified [RCV004402904] Chr19:18266095 [GRCh38]
Chr19:18376905 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.1502T>C (p.Ile501Thr) single nucleotide variant not specified [RCV004402905] Chr19:18266038 [GRCh38]
Chr19:18376848 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.1522T>A (p.Leu508Ile) single nucleotide variant not specified [RCV004402906] Chr19:18266018 [GRCh38]
Chr19:18376828 [GRCh37]
Chr19:19p13.11		 likely benign
NM_001145304.2(IQCN):c.1526G>A (p.Arg509His) single nucleotide variant not specified [RCV004402907] Chr19:18266014 [GRCh38]
Chr19:18376824 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.1594C>T (p.Pro532Ser) single nucleotide variant not specified [RCV004402908] Chr19:18265946 [GRCh38]
Chr19:18376756 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.1687G>T (p.Ala563Ser) single nucleotide variant not specified [RCV004402909] Chr19:18265853 [GRCh38]
Chr19:18376663 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.1696G>C (p.Val566Leu) single nucleotide variant not specified [RCV004402910] Chr19:18265844 [GRCh38]
Chr19:18376654 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.1721A>G (p.Tyr574Cys) single nucleotide variant not specified [RCV004402911] Chr19:18265819 [GRCh38]
Chr19:18376629 [GRCh37]
Chr19:19p13.11		 likely benign
NM_001145304.2(IQCN):c.1743G>T (p.Arg581Ser) single nucleotide variant not specified [RCV004402912] Chr19:18265797 [GRCh38]
Chr19:18376607 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.1763C>T (p.Pro588Leu) single nucleotide variant not specified [RCV004402913] Chr19:18265777 [GRCh38]
Chr19:18376587 [GRCh37]
Chr19:19p13.11		 likely benign
NM_001145304.2(IQCN):c.1778C>G (p.Pro593Arg) single nucleotide variant not specified [RCV004402914] Chr19:18265762 [GRCh38]
Chr19:18376572 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.179A>G (p.Lys60Arg) single nucleotide variant not specified [RCV004402915] Chr19:18267361 [GRCh38]
Chr19:18378171 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.1806A>C (p.Glu602Asp) single nucleotide variant not specified [RCV004402916] Chr19:18265734 [GRCh38]
Chr19:18376544 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.1880A>T (p.Glu627Val) single nucleotide variant not specified [RCV004402917] Chr19:18265660 [GRCh38]
Chr19:18376470 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.1924G>A (p.Asp642Asn) single nucleotide variant not specified [RCV004402918] Chr19:18265616 [GRCh38]
Chr19:18376426 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.1975C>T (p.Arg659Trp) single nucleotide variant not specified [RCV004402919] Chr19:18265565 [GRCh38]
Chr19:18376375 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.211G>A (p.Glu71Lys) single nucleotide variant not specified [RCV004402920] Chr19:18267329 [GRCh38]
Chr19:18378139 [GRCh37]
Chr19:19p13.11		 likely benign
NM_001145304.2(IQCN):c.2233C>T (p.Arg745Trp) single nucleotide variant not specified [RCV004402921] Chr19:18265307 [GRCh38]
Chr19:18376117 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.2276C>T (p.Ala759Val) single nucleotide variant not specified [RCV004402922] Chr19:18265264 [GRCh38]
Chr19:18376074 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.2284G>C (p.Ala762Pro) single nucleotide variant not specified [RCV004402923] Chr19:18265256 [GRCh38]
Chr19:18376066 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.233G>A (p.Arg78His) single nucleotide variant not specified [RCV004402924] Chr19:18267307 [GRCh38]
Chr19:18378117 [GRCh37]
Chr19:19p13.11		 likely benign
NM_001145304.2(IQCN):c.2342C>G (p.Ser781Cys) single nucleotide variant not specified [RCV004402925] Chr19:18265198 [GRCh38]
Chr19:18376008 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.2345A>G (p.Asn782Ser) single nucleotide variant not specified [RCV004402926] Chr19:18265195 [GRCh38]
Chr19:18376005 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.235G>A (p.Val79Ile) single nucleotide variant not specified [RCV004402927] Chr19:18267305 [GRCh38]
Chr19:18378115 [GRCh37]
Chr19:19p13.11		 likely benign
NM_001145304.2(IQCN):c.2432A>G (p.His811Arg) single nucleotide variant not specified [RCV004402928] Chr19:18265108 [GRCh38]
Chr19:18375918 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.2434G>T (p.Val812Leu) single nucleotide variant not specified [RCV004402929] Chr19:18265106 [GRCh38]
Chr19:18375916 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.2459G>C (p.Gly820Ala) single nucleotide variant not specified [RCV004402930] Chr19:18265081 [GRCh38]
Chr19:18375891 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.2501C>T (p.Pro834Leu) single nucleotide variant not specified [RCV004402931] Chr19:18265039 [GRCh38]
Chr19:18375849 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.2557G>A (p.Gly853Arg) single nucleotide variant not specified [RCV004402932] Chr19:18264983 [GRCh38]
Chr19:18375793 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.2557G>C (p.Gly853Arg) single nucleotide variant not specified [RCV004402933] Chr19:18264983 [GRCh38]
Chr19:18375793 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.4043C>T (p.Ala1348Val) single nucleotide variant not specified [RCV004402972] Chr19:18257241 [GRCh38]
Chr19:18368051 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.4079G>A (p.Arg1360Gln) single nucleotide variant not specified [RCV004402973] Chr19:18257205 [GRCh38]
Chr19:18368015 [GRCh37]
Chr19:19p13.11		 likely benign
NM_001145304.2(IQCN):c.415C>T (p.Arg139Cys) single nucleotide variant not specified [RCV004402974] Chr19:18267125 [GRCh38]
Chr19:18377935 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.499G>A (p.Ala167Thr) single nucleotide variant not specified [RCV004402975] Chr19:18267041 [GRCh38]
Chr19:18377851 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.569A>G (p.Lys190Arg) single nucleotide variant not specified [RCV004402976] Chr19:18266971 [GRCh38]
Chr19:18377781 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.697C>T (p.Arg233Trp) single nucleotide variant not specified [RCV004402977] Chr19:18266843 [GRCh38]
Chr19:18377653 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.706G>A (p.Ala236Thr) single nucleotide variant not specified [RCV004402978] Chr19:18266834 [GRCh38]
Chr19:18377644 [GRCh37]
Chr19:19p13.11		 likely benign
NM_001145304.2(IQCN):c.725C>T (p.Thr242Met) single nucleotide variant not specified [RCV004402979] Chr19:18266815 [GRCh38]
Chr19:18377625 [GRCh37]
Chr19:19p13.11		 likely benign
NM_001145304.2(IQCN):c.779G>A (p.Cys260Tyr) single nucleotide variant not specified [RCV004402980] Chr19:18266761 [GRCh38]
Chr19:18377571 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.796A>G (p.Ile266Val) single nucleotide variant not specified [RCV004402981] Chr19:18266744 [GRCh38]
Chr19:18377554 [GRCh37]
Chr19:19p13.11		 likely benign
NM_001145304.2(IQCN):c.920C>T (p.Thr307Met) single nucleotide variant not specified [RCV004402982] Chr19:18266620 [GRCh38]
Chr19:18377430 [GRCh37]
Chr19:19p13.11		 likely benign
NM_001145304.2(IQCN):c.3460C>T (p.Arg1154Trp) single nucleotide variant not specified [RCV004402960] Chr19:18257824 [GRCh38]
Chr19:18368634 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.3452G>A (p.Arg1151His) single nucleotide variant not specified [RCV004402959] Chr19:18257832 [GRCh38]
Chr19:18368642 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.3451C>T (p.Arg1151Cys) single nucleotide variant not specified [RCV004402958] Chr19:18257833 [GRCh38]
Chr19:18368643 [GRCh37]
Chr19:19p13.11		 likely benign
NM_001145304.2(IQCN):c.115G>A (p.Ala39Thr) single nucleotide variant not specified [RCV004630999] Chr19:18267425 [GRCh38]
Chr19:18378235 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.3100G>C (p.Val1034Leu) single nucleotide variant not specified [RCV004631000] Chr19:18264440 [GRCh38]
Chr19:18375250 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.3925T>C (p.Ser1309Pro) single nucleotide variant not specified [RCV004631001] Chr19:18257359 [GRCh38]
Chr19:18368169 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.3301G>A (p.Glu1101Lys) single nucleotide variant not specified [RCV004631002] Chr19:18257983 [GRCh38]
Chr19:18368793 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.1067C>T (p.Ala356Val) single nucleotide variant not specified [RCV004631003] Chr19:18266473 [GRCh38]
Chr19:18377283 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.224C>T (p.Ala75Val) single nucleotide variant not specified [RCV004630994] Chr19:18267316 [GRCh38]
Chr19:18378126 [GRCh37]
Chr19:19p13.11		 likely benign
NM_001145304.2(IQCN):c.2087T>A (p.Leu696Gln) single nucleotide variant not specified [RCV004630995] Chr19:18265453 [GRCh38]
Chr19:18376263 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.95C>T (p.Ala32Val) single nucleotide variant not specified [RCV004630996] Chr19:18267445 [GRCh38]
Chr19:18378255 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.3595G>A (p.Gly1199Arg) single nucleotide variant not specified [RCV004630997] Chr19:18257689 [GRCh38]
Chr19:18368499 [GRCh37]
Chr19:19p13.11		 likely benign
NM_001145304.2(IQCN):c.1529C>T (p.Ser510Leu) single nucleotide variant not specified [RCV004630998] Chr19:18266011 [GRCh38]
Chr19:18376821 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.1624A>C (p.Asn542His) single nucleotide variant not specified [RCV004631005] Chr19:18265916 [GRCh38]
Chr19:18376726 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.1249C>G (p.Gln417Glu) single nucleotide variant not specified [RCV004631006] Chr19:18266291 [GRCh38]
Chr19:18377101 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.147A>C (p.Lys49Asn) single nucleotide variant not specified [RCV004631007] Chr19:18267393 [GRCh38]
Chr19:18378203 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001145304.2(IQCN):c.4099A>G (p.Ile1367Val) single nucleotide variant not specified [RCV004626444] Chr19:18257185 [GRCh38]
Chr19:18367995 [GRCh37]
Chr19:19p13.11		 likely benign
NM_001145304.2(IQCN):c.229C>T (p.Arg77Cys) single nucleotide variant not specified [RCV004341214] Chr19:18267311 [GRCh38]
Chr19:18378121 [GRCh37]
Chr19:19p13.11		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2315
Count of miRNA genes:699
Interacting mature miRNAs:805
Transcripts:ENST00000392413, ENST00000593659, ENST00000595654, ENST00000599528, ENST00000599638, ENST00000600328, ENST00000600359, ENST00000608950
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407172229GWAS821205_Hbody fat percentage QTL GWAS821205 (human)6e-27body fat percentagebody fat percentage (CMO:0000302)191827269618272697Human
407175300GWAS824276_Hvisceral adipose tissue measurement QTL GWAS824276 (human)4e-08visceral adipose tissue measurementabdominal fat morphological measurement (CMO:0000311)191827269618272697Human
407012224GWAS661200_Hglomerular filtration rate QTL GWAS661200 (human)2e-10glomerular filtration rateglomerular filtration rate (CMO:0000490)191827414018274141Human
407295781GWAS944757_Hhypothyroidism QTL GWAS944757 (human)5e-15hypothyroidism191827331218273313Human
407362659GWAS1011635_HThyroid preparation use measurement QTL GWAS1011635 (human)2e-16Thyroid preparation use measurement191827269618272697Human
407171105GWAS820081_Haspartate aminotransferase measurement, serum alanine aminotransferase measurement, low density lipoprotein triglyceride measurement, body fat percentage, high density lipoprotein cholesterol measurement, sex hormone-binding globulin measurement QTL GWAS820081 (human)9e-24aspartate aminotransferase measurement, serum alanine aminotransferase measurement, low density lipoprotein triglyceride measurement, body fat percentage, high density lipoprotein cholesterol measurement, sex hormone-binding globulin measurementblood high density lipoprotein cholesterol level (CMO:0000052)191827269618272697Human
407014436GWAS663412_HThyroid preparation use measurement QTL GWAS663412 (human)9e-15Thyroid preparation use measurement191827269618272697Human
407074085GWAS723061_Hwaist-hip ratio QTL GWAS723061 (human)1e-44waist-hip ratiowaist to hip ratio (WHR) (CMO:0000020)191827269618272697Human
407020709GWAS669685_Htestosterone measurement QTL GWAS669685 (human)2e-08testosterone measurementserum testosterone level (CMO:0000568)191826800918268010Human
407171747GWAS820723_Htriglyceride measurement QTL GWAS820723 (human)3e-09body fat percentagebody fat percentage (CMO:0000302)191827269618272697Human
407166636GWAS815612_Hserum alanine aminotransferase measurement QTL GWAS815612 (human)2e-09serum alanine aminotransferase measurementserum alanine aminotransferase activity level (CMO:0000575)191827269618272697Human
407342796GWAS991772_HBMI-adjusted waist circumference QTL GWAS991772 (human)4e-11BMI-adjusted waist circumference191825831018258311Human
407166411GWAS815387_Hsex hormone-binding globulin measurement QTL GWAS815387 (human)4e-18sex hormone-binding globulin measurement191827269618272697Human
406948462GWAS597438_HBMI-adjusted waist-hip ratio QTL GWAS597438 (human)2e-42BMI-adjusted waist-hip ratio191827269618272697Human
1300034BP50_HBlood pressure QTL 50 (human)2.10.00094Blood pressuresystolic191108946337089463Human
407045361GWAS694337_Hbody composition measurement QTL GWAS694337 (human)9e-12body composition measurement191827269618272697Human
406981371GWAS630347_HBMI-adjusted waist circumference QTL GWAS630347 (human)2e-12BMI-adjusted waist circumference191827179318271794Human
407115005GWAS763981_Hbody fat percentage QTL GWAS763981 (human)2e-15body fat percentagebody fat percentage (CMO:0000302)191827269618272697Human
407342270GWAS991246_HBMI-adjusted waist-hip ratio QTL GWAS991246 (human)4e-23BMI-adjusted waist-hip ratio191827269618272697Human
407095160GWAS744136_Hbody fat percentage QTL GWAS744136 (human)1e-13body fat percentagebody fat percentage (CMO:0000302)191827269618272697Human
407188158GWAS837134_Hhypothyroidism QTL GWAS837134 (human)3e-10hypothyroidism191827331118273312Human
407261885GWAS910861_Hglomerular filtration rate QTL GWAS910861 (human)3e-17glomerular filtration rateglomerular filtration rate (CMO:0000490)191827373418273735Human
407111897GWAS760873_Hhypothyroidism QTL GWAS760873 (human)4e-13hypothyroidism191827269618272697Human

Markers in Region
D19S256  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371918,378,951 - 18,379,133UniSTSGRCh37
Build 361918,239,951 - 18,240,133RGDNCBI36
Celera1918,280,677 - 18,280,859RGD
Cytogenetic Map19p13.1UniSTS
HuRef1917,942,614 - 17,942,800UniSTS
D19S460  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371918,378,963 - 18,379,088UniSTSGRCh37
Build 361918,239,963 - 18,240,088RGDNCBI36
Celera1918,280,689 - 18,280,814RGD
Cytogenetic Map19p13.1UniSTS
HuRef1917,942,626 - 17,942,755UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1204 2431 2788 2245 4933 1723 2341 4 622 1903 464 2258 7235 6409 52 3709 847 1731 1608 170

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001145304 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001145305 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_025249 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005260084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011528324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054322240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB051470 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC008397 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK057466 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK093064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095765 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095771 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302431 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136867 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC034327 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC112932 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC127099 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC127100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ006839 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB078391 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC403083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000392413   ⟹   ENSP00000376213
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1918,257,098 - 18,274,452 (-)Ensembl
Ensembl Acc Id: ENST00000593659   ⟹   ENSP00000475861
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1918,267,336 - 18,274,430 (-)Ensembl
Ensembl Acc Id: ENST00000595654   ⟹   ENSP00000476085
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1918,267,119 - 18,274,411 (-)Ensembl
Ensembl Acc Id: ENST00000599528   ⟹   ENSP00000475649
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1918,267,379 - 18,274,430 (-)Ensembl
Ensembl Acc Id: ENST00000599638
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1918,257,099 - 18,262,618 (-)Ensembl
Ensembl Acc Id: ENST00000600328   ⟹   ENSP00000470780
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1918,257,098 - 18,274,487 (-)Ensembl
Ensembl Acc Id: ENST00000600359   ⟹   ENSP00000472912
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1918,257,098 - 18,274,500 (-)Ensembl
Ensembl Acc Id: ENST00000608950   ⟹   ENSP00000476292
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1918,267,090 - 18,274,471 (-)Ensembl
Ensembl Acc Id: ENST00000612316   ⟹   ENSP00000481156
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1918,257,097 - 18,274,509 (-)Ensembl
RefSeq Acc Id: NM_001145304   ⟹   NP_001138776
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381918,257,098 - 18,274,452 (-)NCBI
GRCh371918,367,906 - 18,385,319 (-)RGD
Celera1918,269,630 - 18,287,045 (-)RGD
HuRef1917,931,567 - 17,948,982 (-)RGD
CHM1_11918,368,170 - 18,385,585 (-)NCBI
T2T-CHM13v2.01918,391,196 - 18,408,552 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001145305   ⟹   NP_001138777
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381918,257,098 - 18,274,452 (-)NCBI
GRCh371918,367,906 - 18,385,319 (-)RGD
Celera1918,269,630 - 18,287,045 (-)RGD
HuRef1917,931,567 - 17,948,982 (-)RGD
CHM1_11918,368,170 - 18,385,585 (-)NCBI
T2T-CHM13v2.01918,391,196 - 18,408,552 (-)NCBI
Sequence:
RefSeq Acc Id: NM_025249   ⟹   NP_079525
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381918,257,098 - 18,274,452 (-)NCBI
GRCh371918,367,906 - 18,385,319 (-)RGD
Build 361918,228,908 - 18,246,235 (-)NCBI Archive
Celera1918,269,630 - 18,287,045 (-)RGD
HuRef1917,931,567 - 17,948,982 (-)RGD
CHM1_11918,368,170 - 18,385,585 (-)NCBI
T2T-CHM13v2.01918,391,196 - 18,408,552 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005260084   ⟹   XP_005260141
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381918,257,098 - 18,274,452 (-)NCBI
GRCh371918,367,906 - 18,385,319 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054322240   ⟹   XP_054178215
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01918,391,196 - 18,408,552 (-)NCBI
RefSeq Acc Id: NP_079525   ⟸   NM_025249
- Peptide Label: isoform b
- UniProtKB: Q96M14 (UniProtKB/Swiss-Prot),   Q8N4G8 (UniProtKB/Swiss-Prot),   Q2KHR5 (UniProtKB/Swiss-Prot),   E9PH54 (UniProtKB/Swiss-Prot),   E9PDE0 (UniProtKB/Swiss-Prot),   B4DYH2 (UniProtKB/Swiss-Prot),   Q9C0I0 (UniProtKB/Swiss-Prot),   Q9H0B3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001138776   ⟸   NM_001145304
- Peptide Label: isoform a
- UniProtKB: Q9H0B3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001138777   ⟸   NM_001145305
- Peptide Label: isoform c
- UniProtKB: Q9H0B3 (UniProtKB/Swiss-Prot),   A0JP07 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005260141   ⟸   XM_005260084
- Peptide Label: isoform X1
- UniProtKB: Q9H0B3 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000476085   ⟸   ENST00000595654
Ensembl Acc Id: ENSP00000475649   ⟸   ENST00000599528
Ensembl Acc Id: ENSP00000481156   ⟸   ENST00000612316
Ensembl Acc Id: ENSP00000470780   ⟸   ENST00000600328
Ensembl Acc Id: ENSP00000472912   ⟸   ENST00000600359
Ensembl Acc Id: ENSP00000376213   ⟸   ENST00000392413
Ensembl Acc Id: ENSP00000475861   ⟸   ENST00000593659
Ensembl Acc Id: ENSP00000476292   ⟸   ENST00000608950
RefSeq Acc Id: XP_054178215   ⟸   XM_054322240
- Peptide Label: isoform X1
Protein Domains
IQ

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9H0B3-F1-model_v2 AlphaFold Q9H0B3 1-1180 view protein structure

Promoters
RGD ID:6795712
Promoter ID:HG_KWN:29295
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour
Transcripts:ENST00000392412,   UC002NIO.2
Position:
Human AssemblyChrPosition (strand)Source
Build 361918,230,811 - 18,232,712 (-)MPROMDB
RGD ID:6795710
Promoter ID:HG_KWN:29297
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001145304,   NM_001145305,   NM_025249
Position:
Human AssemblyChrPosition (strand)Source
Build 361918,246,291 - 18,246,927 (-)MPROMDB
RGD ID:7239133
Promoter ID:EPDNEW_H25311
Type:multiple initiation site
Name:KIAA1683_1
Description:KIAA1683
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381918,270,050 - 18,270,110EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:29350 AgrOrtholog
COSMIC IQCN COSMIC
Ensembl Genes ENSG00000130518 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000392413 ENTREZGENE
  ENST00000392413.5 UniProtKB/Swiss-Prot
  ENST00000593659.5 UniProtKB/TrEMBL
  ENST00000595654.6 UniProtKB/TrEMBL
  ENST00000599528.1 UniProtKB/TrEMBL
  ENST00000600328 ENTREZGENE
  ENST00000600328.7 UniProtKB/Swiss-Prot
  ENST00000600359 ENTREZGENE
  ENST00000600359.7 UniProtKB/Swiss-Prot
  ENST00000608950.1 UniProtKB/TrEMBL
Gene3D-CATH 1.20.5.190 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000130518 GTEx
HGNC ID HGNC:29350 ENTREZGENE
Human Proteome Map IQCN Human Proteome Map
InterPro CellDiv_DevSignal_Domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IQ_motif_EF-hand-BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:80726 UniProtKB/Swiss-Prot
NCBI Gene 80726 ENTREZGENE
OMIM 620160 OMIM
PANTHER PTHR22590:SF2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UNCHARACTERIZED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PF00612 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134952902 PharmGKB
PROSITE PS50096 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SM00015 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0G2JLK5_HUMAN UniProtKB/TrEMBL
  A0JP07 ENTREZGENE, UniProtKB/TrEMBL
  B4DYH2 ENTREZGENE
  E9PDE0 ENTREZGENE
  E9PH54 ENTREZGENE
  IQCN_HUMAN UniProtKB/Swiss-Prot
  Q2KHR5 ENTREZGENE
  Q8N4G8 ENTREZGENE
  Q96M14 ENTREZGENE
  Q9C0I0 ENTREZGENE
  Q9H0B3 ENTREZGENE
  U3KQG6_HUMAN UniProtKB/TrEMBL
  U3KQN7_HUMAN UniProtKB/TrEMBL
  V9GY12_HUMAN UniProtKB/TrEMBL
UniProt Secondary B4DYH2 UniProtKB/Swiss-Prot
  E9PDE0 UniProtKB/Swiss-Prot
  E9PH54 UniProtKB/Swiss-Prot
  Q2KHR5 UniProtKB/Swiss-Prot
  Q8N4G8 UniProtKB/Swiss-Prot
  Q96M14 UniProtKB/Swiss-Prot
  Q9C0I0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-10-31 IQCN  IQ motif containing N  KIAA1683  KIAA1683  Symbol and/or name change 5135510 APPROVED