GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1 AND See cases

Clinical significance:Pathogenic (Last evaluated: Dec 22, 2010)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000142771.3

Allele description [Variation Report for GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1]

GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1

Genes:
  • LOC108281186:AJAP1-NPHP4 intergenic nontranscribed DNase I hypersensitive site-defined enhancer [Gene]
  • ATP13A2:ATPase cation transporting 13A2 [Gene - OMIM - HGNC]
  • C1orf167-AS1:C1orf167 antisense RNA 1 [Gene - HGNC]
  • CAMTA1-AS1:CAMTA1 antisense RNA 1 [Gene - HGNC]
  • CAMTA1-AS2:CAMTA1 antisense RNA 2 [Gene - HGNC]
  • CAMTA1-DT:CAMTA1 divergent transcript [Gene - HGNC]
  • CAMTA1-IT1:CAMTA1 intronic transcript 1 [Gene - HGNC]
  • CENPS-CORT:CENPS-CORT readthrough [Gene - HGNC]
  • LOC106501712:CLCNKA recombination region [Gene]
  • LOC106501713:CLCNKB recombination region [Gene]
  • LOC115801416:CRISPRi-validated cis-regulatory element chr1.1957 [Gene]
  • DDI2:DNA damage inducible 1 homolog 2 [Gene - HGNC]
  • DFFA:DNA fragmentation factor subunit alpha [Gene - OMIM - HGNC]
  • DNAJC11:DnaJ heat shock protein family (Hsp40) member C11 [Gene - OMIM - HGNC]
  • DNAJC16:DnaJ heat shock protein family (Hsp40) member C16 [Gene - HGNC]
  • EFHD2:EF-hand domain family member D2 [Gene - OMIM - HGNC]
  • ENO1-AS1:ENO1 antisense RNA 1 [Gene - HGNC]
  • EPHA2:EPH receptor A2 [Gene - OMIM - HGNC]
  • ERRFI1:ERBB receptor feedback inhibitor 1 [Gene - OMIM - HGNC]
  • EXOSC10-AS1:EXOSC10 antisense RNA 1 [Gene - HGNC]
  • FBXO2:F-box protein 2 [Gene - OMIM - HGNC]
  • FBXO42:F-box protein 42 [Gene - OMIM - HGNC]
  • FBXO44:F-box protein 44 [Gene - OMIM - HGNC]
  • FBXO6:F-box protein 6 [Gene - OMIM - HGNC]
  • LOC102723383:FAM231A/C-like protein LOC102723383 [Gene]
  • FHAD1-AS1:FHAD1 antisense RNA 1 [Gene - HGNC]
  • GPR153:G protein-coupled receptor 153 [Gene - OMIM - HGNC]
  • GPR157:G protein-coupled receptor 157 [Gene - HGNC]
  • IGSF21-AS1:IGSF21 antisense RNA 1 [Gene - HGNC]
  • KAZN-AS1:KAZN antisense RNA 1 [Gene - HGNC]
  • KIAA2013:KIAA2013 [Gene - HGNC]
  • MIR34AHG:MIR34A host gene [Gene - HGNC]
  • MTOR-AS1:MTOR antisense RNA 1 [Gene - HGNC]
  • NBPF1:NBPF member 1 [Gene - OMIM - HGNC]
  • NECAP2:NECAP endocytosis associated 2 [Gene - OMIM - HGNC]
  • LOC111562380:NFE2L2 motif-containing MPRA enhancer 216 [Gene]
  • LOC111591499:NFE2L2 motif-containing MPRA enhancer 265 [Gene]
  • NPPA-AS1:NPPA antisense RNA 1 [Gene - HGNC]
  • PHF13:PHD finger protein 13 [Gene - HGNC]
  • PIK3CD-AS1:PIK3CD antisense RNA 1 [Gene - HGNC]
  • PIK3CD-AS2:PIK3CD antisense RNA 2 [Gene - HGNC]
  • PRDM2:PR/SET domain 2 [Gene - OMIM - HGNC]
  • PRAMEF10:PRAME family member 10 [Gene - HGNC]
  • PRAMEF11:PRAME family member 11 [Gene - HGNC]
  • PRAMEF12:PRAME family member 12 [Gene - HGNC]
  • PRAMEF13:PRAME family member 13 [Gene - HGNC]
  • PRAMEF14:PRAME family member 14 [Gene - HGNC]
  • PRAMEF15:PRAME family member 15 [Gene - HGNC]
  • PRAMEF16:PRAME family member 16 [Gene - HGNC]
  • PRAMEF17:PRAME family member 17 [Gene - HGNC]
  • PRAMEF18:PRAME family member 18 [Gene - HGNC]
  • PRAMEF19:PRAME family member 19 [Gene - HGNC]
  • PRAMEF1:PRAME family member 1 [Gene - HGNC]
  • PRAMEF20:PRAME family member 20 [Gene - HGNC]
  • PRAMEF25:PRAME family member 25 [Gene - HGNC]
  • PRAMEF26:PRAME family member 26 [Gene - HGNC]
  • PRAMEF27:PRAME family member 27 [Gene - HGNC]
  • PRAMEF2:PRAME family member 2 [Gene - HGNC]
  • PRAMEF33:PRAME family member 33 [Gene - HGNC]
  • PRAMEF4:PRAME family member 4 [Gene - HGNC]
  • PRAMEF5:PRAME family member 5 [Gene - HGNC]
  • PRAMEF6:PRAME family member 6 [Gene - HGNC]
  • PRAMEF7:PRAME family member 7 [Gene - HGNC]
  • PRAMEF8:PRAME family member 8 [Gene - HGNC]
  • PRAMEF9:PRAME family member 9 [Gene - HGNC]
  • PARK7:Parkinsonism associated deglycase [Gene - OMIM - HGNC]
  • RERE-AS1:RERE antisense RNA 1 [Gene - HGNC]
  • RNU1-1:RNA, U1 small nuclear 1 [Gene - HGNC]
  • RNU1-2:RNA, U1 small nuclear 2 [Gene - HGNC]
  • RNU1-3:RNA, U1 small nuclear 3 [Gene - HGNC]
  • RNU1-4:RNA, U1 small nuclear 4 [Gene - OMIM - HGNC]
  • RNU5E-1:RNA, U5E small nuclear 1 [Gene - HGNC]
  • LOC108281189:RPL7AP18-LOC102724539 intergenic ENCODE-defined enhancer [Gene]
  • ARHGEF10L:Rho guanine nucleotide exchange factor 10 like [Gene - OMIM - HGNC]
  • ARHGEF19:Rho guanine nucleotide exchange factor 19 [Gene - OMIM - HGNC]
  • SLC25A34-AS1:SLC25A34 and TMEM82 antisense RNA 1 [Gene - HGNC]
  • SZRD1:SUZ RNA binding domain containing 1 [Gene - HGNC]
  • LOC112590813:Sharpr-MPRA regulatory region 11871 [Gene]
  • LOC112577504:Sharpr-MPRA regulatory region 12316 [Gene]
  • LOC112590822:Sharpr-MPRA regulatory region 13854 [Gene]
  • LOC112577491:Sharpr-MPRA regulatory region 2794 [Gene]
  • LOC112577472:Sharpr-MPRA regulatory region 3946 [Gene]
  • LOC112577487:Sharpr-MPRA regulatory region 4366 [Gene]
  • LOC112577488:Sharpr-MPRA regulatory region 5682 [Gene]
  • LOC112590823:Sharpr-MPRA regulatory region 7894 [Gene]
  • LOC112577505:Sharpr-MPRA regulatory region 8013 [Gene]
  • LOC112577486:Sharpr-MPRA regulatory region 8260 [Gene]
  • LOC112590825:Sharpr-MPRA regulatory region 8288 [Gene]
  • LOC112590821:Sharpr-MPRA regulatory region 865 [Gene]
  • TARDBP:TAR DNA binding protein [Gene - OMIM - HGNC]
  • THAP3:THAP domain containing 3 [Gene - OMIM - HGNC]
  • TMEM51-AS1:TMEM51 antisense RNA 1 [Gene - HGNC]
  • TNFRSF1B:TNF receptor superfamily member 1B [Gene - OMIM - HGNC]
  • TNFRSF25:TNF receptor superfamily member 25 [Gene - OMIM - HGNC]
  • TNFRSF8:TNF receptor superfamily member 8 [Gene - OMIM - HGNC]
  • TNFRSF9:TNF receptor superfamily member 9 [Gene - OMIM - HGNC]
  • UBIAD1:UbiA prenyltransferase domain containing 1 [Gene - OMIM - HGNC]
  • LOC110121160:VISTA enhancer hs1615 [Gene]
  • LOC110121213:VISTA enhancer hs1833 [Gene]
  • LOC110121258:VISTA enhancer hs2094 [Gene]
  • LOC114827827:VISTA enhancer hs2123 [Gene]
  • LOC110121260:VISTA enhancer hs2125 [Gene]
  • LOC110120623:VISTA enhancer hs241 [Gene]
  • LOC110120648:VISTA enhancer hs289 [Gene]
  • LOC110120666:VISTA enhancer hs389 [Gene]
  • LOC110120672:VISTA enhancer hs408 [Gene]
  • ACTL8:actin like 8 [Gene - HGNC]
  • ACOT7:acyl-CoA thioesterase 7 [Gene - OMIM - HGNC]
  • AGMAT:agmatinase [Gene - OMIM - HGNC]
  • ANGPTL7:angiopoietin like 7 [Gene - OMIM - HGNC]
  • AGTRAP:angiotensin II receptor associated protein [Gene - OMIM - HGNC]
  • RERE:arginine-glutamic acid dipeptide repeats [Gene - OMIM - HGNC]
  • AADACL3:arylacetamide deacetylase like 3 [Gene - HGNC]
  • AADACL4:arylacetamide deacetylase like 4 [Gene - HGNC]
  • CAMTA1:calmodulin binding transcription activator 1 [Gene - OMIM - HGNC]
  • CLSTN1:calsyntenin 1 [Gene - OMIM - HGNC]
  • CA6:carbonic anhydrase 6 [Gene - OMIM - HGNC]
  • CASP9:caspase 9 [Gene - OMIM - HGNC]
  • CASZ1:castor zinc finger 1 [Gene - OMIM - HGNC]
  • CTNNBIP1:catenin beta interacting protein 1 [Gene - OMIM - HGNC]
  • CENPS:centromere protein S [Gene - OMIM - HGNC]
  • CLCN6:chloride voltage-gated channel 6 [Gene - OMIM - HGNC]
  • CLCNKA:chloride voltage-gated channel Ka [Gene - OMIM - HGNC]
  • CLCNKB:chloride voltage-gated channel Kb [Gene - OMIM - HGNC]
  • CHD5:chromodomain helicase DNA binding protein 5 [Gene - OMIM - HGNC]
  • C1orf127:chromosome 1 open reading frame 127 [Gene - HGNC]
  • C1orf158:chromosome 1 open reading frame 158 [Gene - HGNC]
  • C1orf167:chromosome 1 open reading frame 167 [Gene - HGNC]
  • C1orf195:chromosome 1 open reading frame 195 [Gene - HGNC]
  • CTRC:chymotrypsin C [Gene - OMIM - HGNC]
  • CELA2A:chymotrypsin like elastase 2A [Gene - OMIM - HGNC]
  • CELA2B:chymotrypsin like elastase 2B [Gene - OMIM - HGNC]
  • CROCC:ciliary rootlet coiled-coil, rootletin [Gene - OMIM - HGNC]
  • CPLANE2:ciliogenesis and planar polarity effector 2 [Gene - HGNC]
  • CORT:cortistatin [Gene - OMIM - HGNC]
  • DHRS3:dehydrogenase/reductase 3 [Gene - OMIM - HGNC]
  • DISP3:dispatched RND transporter family member 3 [Gene - OMIM - HGNC]
  • DRAXIN:dorsal inhibitory axon guidance protein [Gene - OMIM - HGNC]
  • ENO1:enolase 1 [Gene - OMIM - HGNC]
  • ESPN:espin [Gene - OMIM - HGNC]
  • EXOSC10:exosome component 10 [Gene - OMIM - HGNC]
  • FAM131C:family with sequence similarity 131 member C [Gene - HGNC]
  • FAM231AP:family with sequence similarity 231 member A, pseudogene [Gene - HGNC]
  • FAM231BP:family with sequence similarity 231 member B, pseudogene [Gene - HGNC]
  • FBLIM1:filamin binding LIM protein 1 [Gene - OMIM - HGNC]
  • FHAD1:forkhead associated phosphopeptide binding domain 1 [Gene - HGNC]
  • HSPB7:heat shock protein family B (small) member 7 [Gene - OMIM - HGNC]
  • HES2:hes family bHLH transcription factor 2 [Gene - OMIM - HGNC]
  • HES3:hes family bHLH transcription factor 3 [Gene - OMIM - HGNC]
  • HNRNPCL1:heterogeneous nuclear ribonucleoprotein C like 1 [Gene - HGNC]
  • HNRNPCL2:heterogeneous nuclear ribonucleoprotein C like 2 [Gene - HGNC]
  • HNRNPCL3:heterogeneous nuclear ribonucleoprotein C like 3 [Gene - HGNC]
  • HNRNPCL4:heterogeneous nuclear ribonucleoprotein C like 4 [Gene - HGNC]
  • H6PD:hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase [Gene - OMIM - HGNC]
  • IGSF21:immunoglobin superfamily member 21 [Gene - HGNC]
  • ICMT:isoprenylcysteine carboxyl methyltransferase [Gene - OMIM - HGNC]
  • KAZN:kazrin, periplakin interacting protein [Gene - OMIM - HGNC]
  • KLHL21:kelch like family member 21 [Gene - OMIM - HGNC]
  • KIF1B:kinesin family member 1B [Gene - OMIM - HGNC]
  • LRRC38:leucine rich repeat containing 38 [Gene - OMIM - HGNC]
  • LZIC:leucine zipper and CTNNBIP1 domain containing [Gene - OMIM - HGNC]
  • LINC01647:long intergenic non-protein coding RNA 1647 [Gene - HGNC]
  • LINC01654:long intergenic non-protein coding RNA 1654 [Gene - HGNC]
  • LINC01672:long intergenic non-protein coding RNA 1672 [Gene - HGNC]
  • LINC01714:long intergenic non-protein coding RNA 1714 [Gene - HGNC]
  • LINC01772:long intergenic non-protein coding RNA 1772 [Gene - HGNC]
  • LINC01783:long intergenic non-protein coding RNA 1783 [Gene - HGNC]
  • LINC01784:long intergenic non-protein coding RNA 1784 [Gene - HGNC]
  • LINC02606:long intergenic non-protein coding RNA 2606 [Gene - HGNC]
  • LINC02766:long intergenic non-protein coding RNA 2766 [Gene - HGNC]
  • LINC02783:long intergenic non-protein coding RNA 2783 [Gene - HGNC]
  • LINC00337:long intergenic non-protein coding RNA 337 [Gene - HGNC]
  • LNCTAM34A:long non coding transcriptional activator of miR34a [Gene - HGNC]
  • MST1L:macrophage stimulating 1 like [Gene - HGNC]
  • MASP2:mannan binding lectin serine peptidase 2 [Gene - OMIM - HGNC]
  • MTOR:mechanistic target of rapamycin kinase [Gene - OMIM - HGNC]
  • MTHFR:methylenetetrahydrofolate reductase [Gene - OMIM - HGNC]
  • MIR1273D:microRNA 1273d [Gene - HGNC]
  • MIR34A:microRNA 34a [Gene - OMIM - HGNC]
  • MIR3675:microRNA 3675 [Gene - HGNC]
  • MIR3972:microRNA 3972 [Gene - HGNC]
  • MIR4252:microRNA 4252 [Gene - HGNC]
  • MIR4417:microRNA 4417 [Gene - HGNC]
  • MIR4632:microRNA 4632 [Gene - HGNC]
  • MIR4689:microRNA 4689 [Gene - HGNC]
  • MIR5697:microRNA 5697 [Gene - HGNC]
  • MIR6728:microRNA 6728 [Gene - HGNC]
  • MIR6729:microRNA 6729 [Gene - HGNC]
  • MIR6730:microRNA 6730 [Gene - HGNC]
  • MIR7846:microRNA 7846 [Gene - HGNC]
  • MFAP2:microfibril associated protein 2 [Gene - OMIM - HGNC]
  • MIIP:migration and invasion inhibitory protein [Gene - OMIM - HGNC]
  • MFN2:mitofusin 2 [Gene - OMIM - HGNC]
  • MAD2L2:mitotic arrest deficient 2 like 2 [Gene - OMIM - HGNC]
  • NPPA:natriuretic peptide A [Gene - OMIM - HGNC]
  • NPPB:natriuretic peptide B [Gene - OMIM - HGNC]
  • NPHP4:nephrocystin 4 [Gene - OMIM - HGNC]
  • NMNAT1:nicotinamide nucleotide adenylyltransferase 1 [Gene - OMIM - HGNC]
  • LOC106783575:nonconserved acetylation island sequence 67 enhancer [Gene]
  • NOL9:nucleolar protein 9 [Gene - HGNC]
  • PADI1:peptidyl arginine deiminase 1 [Gene - OMIM - HGNC]
  • PADI2:peptidyl arginine deiminase 2 [Gene - OMIM - HGNC]
  • PADI3:peptidyl arginine deiminase 3 [Gene - OMIM - HGNC]
  • PADI4:peptidyl arginine deiminase 4 [Gene - OMIM - HGNC]
  • PADI6:peptidyl arginine deiminase 6 [Gene - OMIM - HGNC]
  • PER3:period circadian regulator 3 [Gene - OMIM - HGNC]
  • PEX14:peroxisomal biogenesis factor 14 [Gene - OMIM - HGNC]
  • PIK3CD:phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta [Gene - OMIM - HGNC]
  • PGD:phosphogluconate dehydrogenase [Gene - OMIM - HGNC]
  • PLEKHM2:pleckstrin homology and RUN domain containing M2 [Gene - OMIM - HGNC]
  • PLEKHG5:pleckstrin homology and RhoGEF domain containing G5 [Gene - OMIM - HGNC]
  • PDPN:podoplanin [Gene - OMIM - HGNC]
  • KCNAB2:potassium voltage-gated channel subfamily A regulatory beta subunit 2 [Gene - OMIM - HGNC]
  • PLOD1:procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 [Gene - OMIM - HGNC]
  • RCC2:regulator of chromosome condensation 2 [Gene - OMIM - HGNC]
  • RSC1A1:regulator of solute carriers 1 [Gene - OMIM - HGNC]
  • RBP7:retinol binding protein 7 [Gene - OMIM - HGNC]
  • RPL22:ribosomal protein L22 [Gene - OMIM - HGNC]
  • RNF207:ring finger protein 207 [Gene - OMIM - HGNC]
  • SCARNA21B:small Cajal body-specific RNA 21B [Gene - HGNC]
  • SNORD128:small nucleolar RNA, C/D box 128 [Gene - HGNC]
  • SNORA59A:small nucleolar RNA, H/ACA box 59A [Gene - HGNC]
  • SLC2A5:solute carrier family 2 member 5 [Gene - OMIM - HGNC]
  • SLC2A7:solute carrier family 2 member 7 [Gene - OMIM - HGNC]
  • SLC25A33:solute carrier family 25 member 33 [Gene - OMIM - HGNC]
  • SLC25A34:solute carrier family 25 member 34 [Gene - OMIM - HGNC]
  • SLC45A1:solute carrier family 45 member 1 [Gene - OMIM - HGNC]
  • SPEN:spen family transcriptional repressor [Gene - OMIM - HGNC]
  • SPATA21:spermatogenesis associated 21 [Gene - HGNC]
  • SRM:spermidine synthase [Gene - OMIM - HGNC]
  • SPSB1:splA/ryanodine receptor domain and SOCS box containing 1 [Gene - OMIM - HGNC]
  • SRARP:steroid receptor associated and regulated protein [Gene - HGNC]
  • SDHB:succinate dehydrogenase complex iron sulfur subunit B [Gene - OMIM - HGNC]
  • TRNAG1:tRNA glycine1 (anticodon CCC) [Gene - OMIM]
  • TRN-GTT13-1:tRNA-Asn (GTT) 13-1 [Gene - HGNC]
  • TRN-GTT4-1:tRNA-Asn (anticodon GTT) 4-1 [Gene - HGNC]
  • TRQ-CTG14-1:tRNA-Gln (anticodon CTG) 14-1 [Gene - HGNC]
  • TRE-TTC3-1:tRNA-Glu (anticodon TTC) 3-1 [Gene - OMIM - HGNC]
  • TRG-CCC5-1:tRNA-Gly (CCC) 5-1 [Gene - HGNC]
  • TRG-CCC1-2:tRNA-Gly (anticodon CCC) 1-2 [Gene - HGNC]
  • TAS1R1:taste 1 receptor member 1 [Gene - OMIM - HGNC]
  • TMEM201:transmembrane protein 201 [Gene - HGNC]
  • TMEM51:transmembrane protein 51 [Gene - HGNC]
  • TMEM82:transmembrane protein 82 [Gene - HGNC]
  • UQCRHL:ubiquinol-cytochrome c reductase hinge protein like [Gene - HGNC]
  • UBE4B:ubiquitination factor E4B [Gene - OMIM - HGNC]
  • LOC102724450:uncharacterized LOC102724450 [Gene]
  • LOC105376805:uncharacterized LOC105376805 [Gene]
  • LOC112267871:uncharacterized LOC112267871 [Gene]
  • FLJ37453:uncharacterized LOC729614 [Gene]
  • UTS2:urotensin 2 [Gene - OMIM - HGNC]
  • VPS13D:vacuolar protein sorting 13 homolog D [Gene - OMIM - HGNC]
  • VAMP3:vesicle associated membrane protein 3 [Gene - OMIM - HGNC]
  • ZBTB17:zinc finger and BTB domain containing 17 [Gene - OMIM - HGNC]
  • ZBTB48:zinc finger and BTB domain containing 48 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
1p36.31-36.13
Genomic location:
Preferred name:
GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1
HGVS:
  • NC_000001.11:g.(?_5363826)_(18360302_?)del
  • NC_000001.10:g.(?_5423886)_(18686796_?)del
  • NC_000001.9:g.(?_5323746)_(18559383_?)del
Links:
dbVar: nssv583149; dbVar: nsv534553
Observations:
1

Condition(s)

Name:
See cases [See the Variation display for details]
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000177331ISCA site 1

See additional submitters

no assertion criteria providedPathogenic
(Dec 22, 2010)
not providedclinical testing

PubMed (1)
[See all records that cite this PMID]

Description

Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations, with clinical assertions as classified by the original submitter.

SCV000177331

Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations, with clinical assertions as classified by the original submitter. For data from the original published study, [Kaminsky, et al. 2011|/pubmed/21844811], please see [nstd101|/dbvar/studies/nstd101/].

SCV000177331

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providedyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, et al.

Am J Hum Genet. 2010 May 14;86(5):749-64. doi: 10.1016/j.ajhg.2010.04.006. Review.

PubMed [citation]
PMID:
20466091
PMCID:
PMC2869000

Details of each submission

From ISCA site 1, SCV000177331.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providedyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: Dec 17, 2019

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