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NC_000011.10:g.(499700_4999400)_(5279346_5279697)del AND Thalassemia, gamma-delta-beta

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 1, 1989
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000015529.26

Allele description [Variation Report for NC_000011.10:g.(499700_4999400)_(5279346_5279697)del]

NC_000011.10:g.(499700_4999400)_(5279346_5279697)del

Genes:
  • A-GAMMA3'E:A-gamma-globin 3' regulatory region [Gene]
  • ART1:ADP-ribosyltransferase 1 [Gene - OMIM - HGNC]
  • ART5:ADP-ribosyltransferase 5 [Gene - OMIM - HGNC]
  • LOC130005089:ATAC-STARR-seq lymphoblastoid active region 4279 [Gene]
  • LOC130005090:ATAC-STARR-seq lymphoblastoid active region 4280 [Gene]
  • LOC130005091:ATAC-STARR-seq lymphoblastoid active region 4281 [Gene]
  • LOC130005093:ATAC-STARR-seq lymphoblastoid active region 4284 [Gene]
  • LOC130005094:ATAC-STARR-seq lymphoblastoid active region 4285 [Gene]
  • LOC130005095:ATAC-STARR-seq lymphoblastoid active region 4286 [Gene]
  • LOC130005098:ATAC-STARR-seq lymphoblastoid active region 4287 [Gene]
  • LOC130005111:ATAC-STARR-seq lymphoblastoid active region 4288 [Gene]
  • LOC130005117:ATAC-STARR-seq lymphoblastoid active region 4289 [Gene]
  • LOC130005125:ATAC-STARR-seq lymphoblastoid active region 4290 [Gene]
  • LOC130005126:ATAC-STARR-seq lymphoblastoid active region 4291 [Gene]
  • LOC130005127:ATAC-STARR-seq lymphoblastoid active region 4292 [Gene]
  • LOC130005128:ATAC-STARR-seq lymphoblastoid active region 4293 [Gene]
  • LOC130005129:ATAC-STARR-seq lymphoblastoid active region 4294 [Gene]
  • LOC130005131:ATAC-STARR-seq lymphoblastoid active region 4295 [Gene]
  • LOC130005134:ATAC-STARR-seq lymphoblastoid active region 4296 [Gene]
  • LOC130005135:ATAC-STARR-seq lymphoblastoid active region 4297 [Gene]
  • LOC130005137:ATAC-STARR-seq lymphoblastoid active region 4298 [Gene]
  • LOC130005139:ATAC-STARR-seq lymphoblastoid active region 4300 [Gene]
  • LOC130005140:ATAC-STARR-seq lymphoblastoid active region 4301 [Gene]
  • LOC130005143:ATAC-STARR-seq lymphoblastoid active region 4304 [Gene]
  • LOC130005144:ATAC-STARR-seq lymphoblastoid active region 4305 [Gene]
  • LOC130005146:ATAC-STARR-seq lymphoblastoid active region 4306 [Gene]
  • LOC130005148:ATAC-STARR-seq lymphoblastoid active region 4307 [Gene]
  • LOC130005153:ATAC-STARR-seq lymphoblastoid active region 4309 [Gene]
  • LOC130005159:ATAC-STARR-seq lymphoblastoid active region 4310 [Gene]
  • LOC130005164:ATAC-STARR-seq lymphoblastoid active region 4311 [Gene]
  • LOC130005165:ATAC-STARR-seq lymphoblastoid active region 4312 [Gene]
  • LOC130005166:ATAC-STARR-seq lymphoblastoid active region 4313 [Gene]
  • LOC130005167:ATAC-STARR-seq lymphoblastoid active region 4314 [Gene]
  • LOC130005168:ATAC-STARR-seq lymphoblastoid active region 4315 [Gene]
  • LOC130005169:ATAC-STARR-seq lymphoblastoid active region 4316 [Gene]
  • LOC130005171:ATAC-STARR-seq lymphoblastoid active region 4317 [Gene]
  • LOC130005172:ATAC-STARR-seq lymphoblastoid active region 4318 [Gene]
  • LOC130005173:ATAC-STARR-seq lymphoblastoid active region 4319 [Gene]
  • LOC130005174:ATAC-STARR-seq lymphoblastoid active region 4320 [Gene]
  • LOC130005175:ATAC-STARR-seq lymphoblastoid active region 4321 [Gene]
  • LOC130005177:ATAC-STARR-seq lymphoblastoid active region 4322 [Gene]
  • LOC130005178:ATAC-STARR-seq lymphoblastoid active region 4323 [Gene]
  • LOC130005179:ATAC-STARR-seq lymphoblastoid active region 4324 [Gene]
  • LOC130005075:ATAC-STARR-seq lymphoblastoid silent region 3015 [Gene]
  • LOC130005076:ATAC-STARR-seq lymphoblastoid silent region 3016 [Gene]
  • LOC130005077:ATAC-STARR-seq lymphoblastoid silent region 3017 [Gene]
  • LOC130005078:ATAC-STARR-seq lymphoblastoid silent region 3018 [Gene]
  • LOC130005079:ATAC-STARR-seq lymphoblastoid silent region 3019 [Gene]
  • LOC130005080:ATAC-STARR-seq lymphoblastoid silent region 3020 [Gene]
  • LOC130005081:ATAC-STARR-seq lymphoblastoid silent region 3021 [Gene]
  • LOC130005082:ATAC-STARR-seq lymphoblastoid silent region 3022 [Gene]
  • LOC130005083:ATAC-STARR-seq lymphoblastoid silent region 3025 [Gene]
  • LOC130005084:ATAC-STARR-seq lymphoblastoid silent region 3026 [Gene]
  • LOC130005085:ATAC-STARR-seq lymphoblastoid silent region 3027 [Gene]
  • LOC130005086:ATAC-STARR-seq lymphoblastoid silent region 3028 [Gene]
  • LOC130005087:ATAC-STARR-seq lymphoblastoid silent region 3029 [Gene]
  • LOC130005088:ATAC-STARR-seq lymphoblastoid silent region 3032 [Gene]
  • LOC130005092:ATAC-STARR-seq lymphoblastoid silent region 3034 [Gene]
  • LOC130005096:ATAC-STARR-seq lymphoblastoid silent region 3035 [Gene]
  • LOC130005097:ATAC-STARR-seq lymphoblastoid silent region 3036 [Gene]
  • LOC130005099:ATAC-STARR-seq lymphoblastoid silent region 3038 [Gene]
  • LOC130005100:ATAC-STARR-seq lymphoblastoid silent region 3039 [Gene]
  • LOC130005101:ATAC-STARR-seq lymphoblastoid silent region 3040 [Gene]
  • LOC130005102:ATAC-STARR-seq lymphoblastoid silent region 3041 [Gene]
  • LOC130005103:ATAC-STARR-seq lymphoblastoid silent region 3042 [Gene]
  • LOC130005104:ATAC-STARR-seq lymphoblastoid silent region 3044 [Gene]
  • LOC130005105:ATAC-STARR-seq lymphoblastoid silent region 3045 [Gene]
  • LOC130005106:ATAC-STARR-seq lymphoblastoid silent region 3046 [Gene]
  • LOC130005107:ATAC-STARR-seq lymphoblastoid silent region 3047 [Gene]
  • LOC130005108:ATAC-STARR-seq lymphoblastoid silent region 3048 [Gene]
  • LOC130005109:ATAC-STARR-seq lymphoblastoid silent region 3049 [Gene]
  • LOC130005110:ATAC-STARR-seq lymphoblastoid silent region 3050 [Gene]
  • LOC130005112:ATAC-STARR-seq lymphoblastoid silent region 3052 [Gene]
  • LOC130005113:ATAC-STARR-seq lymphoblastoid silent region 3053 [Gene]
  • LOC130005114:ATAC-STARR-seq lymphoblastoid silent region 3054 [Gene]
  • LOC130005115:ATAC-STARR-seq lymphoblastoid silent region 3055 [Gene]
  • LOC130005116:ATAC-STARR-seq lymphoblastoid silent region 3056 [Gene]
  • LOC130005118:ATAC-STARR-seq lymphoblastoid silent region 3057 [Gene]
  • LOC130005119:ATAC-STARR-seq lymphoblastoid silent region 3058 [Gene]
  • LOC130005120:ATAC-STARR-seq lymphoblastoid silent region 3059 [Gene]
  • LOC130005121:ATAC-STARR-seq lymphoblastoid silent region 3060 [Gene]
  • LOC130005122:ATAC-STARR-seq lymphoblastoid silent region 3061 [Gene]
  • LOC130005123:ATAC-STARR-seq lymphoblastoid silent region 3062 [Gene]
  • LOC130005124:ATAC-STARR-seq lymphoblastoid silent region 3063 [Gene]
  • LOC130005130:ATAC-STARR-seq lymphoblastoid silent region 3064 [Gene]
  • LOC130005132:ATAC-STARR-seq lymphoblastoid silent region 3065 [Gene]
  • LOC130005133:ATAC-STARR-seq lymphoblastoid silent region 3066 [Gene]
  • LOC130005136:ATAC-STARR-seq lymphoblastoid silent region 3067 [Gene]
  • LOC130005138:ATAC-STARR-seq lymphoblastoid silent region 3068 [Gene]
  • LOC130005141:ATAC-STARR-seq lymphoblastoid silent region 3069 [Gene]
  • LOC130005142:ATAC-STARR-seq lymphoblastoid silent region 3070 [Gene]
  • LOC130005145:ATAC-STARR-seq lymphoblastoid silent region 3071 [Gene]
  • LOC130005147:ATAC-STARR-seq lymphoblastoid silent region 3074 [Gene]
  • LOC130005149:ATAC-STARR-seq lymphoblastoid silent region 3075 [Gene]
  • LOC130005150:ATAC-STARR-seq lymphoblastoid silent region 3077 [Gene]
  • LOC130005151:ATAC-STARR-seq lymphoblastoid silent region 3078 [Gene]
  • LOC130005152:ATAC-STARR-seq lymphoblastoid silent region 3079 [Gene]
  • LOC130005154:ATAC-STARR-seq lymphoblastoid silent region 3080 [Gene]
  • LOC130005155:ATAC-STARR-seq lymphoblastoid silent region 3081 [Gene]
  • LOC130005156:ATAC-STARR-seq lymphoblastoid silent region 3082 [Gene]
  • LOC130005157:ATAC-STARR-seq lymphoblastoid silent region 3083 [Gene]
  • LOC130005158:ATAC-STARR-seq lymphoblastoid silent region 3084 [Gene]
  • LOC130005160:ATAC-STARR-seq lymphoblastoid silent region 3085 [Gene]
  • LOC130005161:ATAC-STARR-seq lymphoblastoid silent region 3086 [Gene]
  • LOC130005162:ATAC-STARR-seq lymphoblastoid silent region 3087 [Gene]
  • LOC130005163:ATAC-STARR-seq lymphoblastoid silent region 3088 [Gene]
  • LOC130005170:ATAC-STARR-seq lymphoblastoid silent region 3093 [Gene]
  • LOC130005176:ATAC-STARR-seq lymphoblastoid silent region 3094 [Gene]
  • LOC130005180:ATAC-STARR-seq lymphoblastoid silent region 3095 [Gene]
  • LOC130005181:ATAC-STARR-seq lymphoblastoid silent region 3096 [Gene]
  • BRSK2:BR serine/threonine kinase 2 [Gene - OMIM - HGNC]
  • LOC126861113:BRD4-independent group 4 enhancer GRCh37_chr11:1640412-1641611 [Gene]
  • LOC126861115:BRD4-independent group 4 enhancer GRCh37_chr11:3061281-3062480 [Gene]
  • LOC126861116:BRD4-independent group 4 enhancer GRCh37_chr11:4406895-4408094 [Gene]
  • LOC126861118:BRD4-independent group 4 enhancer GRCh37_chr11:4516376-4517575 [Gene]
  • LOC126861109:BRD4-independent group 4 enhancer GRCh37_chr11:673917-675116 [Gene]
  • CARS1-AS1:CARS1 antisense RNA 1 [Gene - HGNC]
  • CD151:CD151 molecule (Raph blood group) [Gene - OMIM - HGNC]
  • CD81-AS1:CD81 antisense RNA 1 [Gene - HGNC]
  • CD81:CD81 molecule [Gene - OMIM - HGNC]
  • LOC126861112:CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:1214179-1215378 [Gene]
  • LOC126861110:CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:762588-763787 [Gene]
  • LOC116216127:CRISPRi-validated cis-regulatory element chr11.592 [Gene]
  • LOC116216128:CRISPRi-validated cis-regulatory element chr11.762 [Gene]
  • DEAF1:DEAF1 transcription factor [Gene - OMIM - HGNC]
  • EPS8L2:EPS8 like 2 [Gene - OMIM - HGNC]
  • GATD1-DT:GATD1 divergent transcript [Gene - HGNC]
  • H19:H19 imprinted maternally expressed transcript [Gene - OMIM - HGNC]
  • HOTS:H19 opposite tumor suppressor [Gene]
  • LOC105274310:H19/IGF2 enhancer region [Gene]
  • H19-ICR:H19/IGF2 imprinting control region [Gene - OMIM]
  • LOC106099062:HBB recombination region [Gene]
  • LOC106099063:HBD recombination region [Gene]
  • LOC106099064:HBG1 recombination region [Gene]
  • LOC106099065:HBG2 recombination region [Gene]
  • HRAS:HRas proto-oncogene, GTPase [Gene - OMIM - HGNC]
  • IGF2-AS:IGF2 antisense RNA [Gene - OMIM - HGNC]
  • INS-IGF2:INS-IGF2 readthrough [Gene - HGNC]
  • KCNQ1-AS1:KCNQ1 antisense RNA 1 [Gene - HGNC]
  • KCNQ1DN:KCNQ1 downstream neighbor [Gene - OMIM - HGNC]
  • KCNQ1OT1:KCNQ1 opposite strand/antisense transcript 1 [Gene - OMIM - HGNC]
  • KRTAP5-AS1:KRTAP5-1/KRTAP5-2 antisense RNA 1 [Gene - HGNC]
  • LMNTD2-AS1:LMNTD2 antisense RNA 1 [Gene - HGNC]
  • MRGPRE:MAS related GPR family member E [Gene - OMIM - HGNC]
  • MRGPRG:MAS related GPR family member G [Gene - OMIM - HGNC]
  • LOC126861114:MED14-independent group 3 enhancer GRCh37_chr11:1918050-1919249 [Gene]
  • LOC126861117:MED14-independent group 3 enhancer GRCh37_chr11:4485052-4486251 [Gene]
  • MIR210HG:MIR210 host gene [Gene - HGNC]
  • MOB2:MOB kinase activator 2 [Gene - OMIM - HGNC]
  • LOC129390247:MPRA-validated peak1160 silencer [Gene]
  • LOC129390248:MPRA-validated peak1163 silencer [Gene]
  • LOC129390249:MPRA-validated peak1165 silencer [Gene]
  • LOC129390250:MPRA-validated peak1169 silencer [Gene]
  • LOC129390251:MPRA-validated peak1172 silencer [Gene]
  • LOC129388416:MPRA-validated peak1178 silencer [Gene]
  • LOC129388417:MPRA-validated peak1179 silencer [Gene]
  • MRGPRG-AS1:MRGPRG antisense RNA 1 [Gene - HGNC]
  • MRPL23-AS1:MRPL23 antisense RNA 1 [Gene - HGNC]
  • MUC5B-AS1:MUC5B antisense RNA 1 [Gene - HGNC]
  • LOC132089927:Neanderthal introgressed variant-containing enhancer experimental_21090 [Gene]
  • LOC132090832:Neanderthal introgressed variant-containing enhancer experimental_21101 [Gene]
  • LOC132089930:Neanderthal introgressed variant-containing enhancer experimental_21160 [Gene]
  • LOC132089931:Neanderthal introgressed variant-containing enhancer experimental_21169 [Gene]
  • LOC132090831:Neanderthal introgressed variant-containing enhancer experimental_21531 [Gene]
  • LOC126861111:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:1060443-1061642 [Gene]
  • PHRF1:PHD and ring finger domains 1 [Gene - OMIM - HGNC]
  • PRADX:PRC2 and DDX5 associated lncRNA [Gene - HGNC]
  • POLR2L:RNA polymerase II, I and III subunit L [Gene - OMIM - HGNC]
  • RASSF7:Ras association domain family member 7 [Gene - OMIM - HGNC]
  • SLC22A18AS:SLC22A18 antisense RNA [Gene - OMIM - HGNC]
  • SSU72L1:SSU72 like 1 [Gene - HGNC]
  • SSU72L2:SSU72 like 2 [Gene - HGNC]
  • SSU72L3:SSU72 like 3 [Gene - HGNC]
  • SSU72L4:SSU72 like 4 [Gene - HGNC]
  • SSU72L5:SSU72 like 5 [Gene - HGNC]
  • STIM1-AS1:STIM1 antisense RNA 1 [Gene - HGNC]
  • LOC124418413:Sharpr-MPRA regulatory region 10567 [Gene]
  • LOC113939920:Sharpr-MPRA regulatory region 10946 [Gene]
  • LOC124418416:Sharpr-MPRA regulatory region 11059 [Gene]
  • LOC121392887:Sharpr-MPRA regulatory region 11801 [Gene]
  • LOC124418420:Sharpr-MPRA regulatory region 12872 [Gene]
  • LOC112067719:Sharpr-MPRA regulatory region 13774 [Gene]
  • LOC121832783:Sharpr-MPRA regulatory region 1570 [Gene]
  • LOC124418414:Sharpr-MPRA regulatory region 3604 [Gene]
  • LOC124418411:Sharpr-MPRA regulatory region 3787 [Gene]
  • LOC124418419:Sharpr-MPRA regulatory region 4578 [Gene]
  • LOC112081391:Sharpr-MPRA regulatory region 4669 [Gene]
  • LOC121832782:Sharpr-MPRA regulatory region 4967 [Gene]
  • LOC121392888:Sharpr-MPRA regulatory region 4982 [Gene]
  • LOC112067720:Sharpr-MPRA regulatory region 5988 [Gene]
  • LOC124418412:Sharpr-MPRA regulatory region 620 [Gene]
  • LOC124418418:Sharpr-MPRA regulatory region 6583 [Gene]
  • LOC124418415:Sharpr-MPRA regulatory region 9407 [Gene]
  • LOC124418421:Sharpr-MPRA regulatory region 9588 [Gene]
  • TOLLIP-DT:TOLLIP divergent transcript [Gene - HGNC]
  • LOC110121378:VISTA enhancer hs1488 [Gene]
  • ASCL2:achaete-scute family bHLH transcription factor 2 [Gene - OMIM - HGNC]
  • AP2A2:adaptor related protein complex 2 subunit alpha 2 [Gene - OMIM - HGNC]
  • BGLT3:beta globin locus transcript 3 [Gene - OMIM - HGNC]
  • HBB-3'HS1:beta-globin 3' hypersensitive site 1 [Gene]
  • LOC110006319:beta-globin gene 3' regulatory region [Gene]
  • HS-E1:beta-globin hypersensitive site-embryonic 1 [Gene]
  • HBB-LCR:beta-globin locus control region [Gene - OMIM]
  • CDHR5:cadherin related family member 5 [Gene - OMIM - HGNC]
  • CRACR2B:calcium release activated channel regulator 2B [Gene - OMIM - HGNC]
  • CTSD:cathepsin D [Gene - OMIM - HGNC]
  • CEND1:cell cycle exit and neuronal differentiation 1 [Gene - OMIM - HGNC]
  • CHID1:chitinase domain containing 1 [Gene - OMIM - HGNC]
  • CHRNA10:cholinergic receptor nicotinic alpha 10 subunit [Gene - OMIM - HGNC]
  • C11orf21:chromosome 11 open reading frame 21 [Gene - OMIM - HGNC]
  • C11orf40:chromosome 11 putative open reading frame 40 [Gene - HGNC]
  • CDKN1C:cyclin dependent kinase inhibitor 1C [Gene - OMIM - HGNC]
  • CARS1:cysteinyl-tRNA synthetase 1 [Gene - OMIM - HGNC]
  • LOC109951029:delta-globin 5' regulatory region [Gene]
  • DRD4:dopamine receptor D4 [Gene - OMIM - HGNC]
  • DUSP8:dual specificity phosphatase 8 [Gene - OMIM - HGNC]
  • FAM99A:family with sequence similarity 99 member A [Gene - HGNC]
  • FAM99B:family with sequence similarity 99 member B [Gene - HGNC]
  • GATD1:glutamine amidotransferase class 1 domain containing 1 [Gene - HGNC]
  • HBB:hemoglobin subunit beta [Gene - OMIM - HGNC]
  • HBD:hemoglobin subunit delta [Gene - OMIM - HGNC]
  • HBE1:hemoglobin subunit epsilon 1 [Gene - OMIM - HGNC]
  • HBG1:hemoglobin subunit gamma 1 [Gene - OMIM - HGNC]
  • HBG2:hemoglobin subunit gamma 2 [Gene - OMIM - HGNC]
  • LOC110011217:hereditary persistence of fetal hemoglobin-1 and -2 3' breakpoint enhancers [Gene]
  • LOC110008579:hereditary persistence of fetal hemoglobin-3 3' breakpoint enhancer [Gene]
  • LOC110013311:hereditary persistence of fetal hemoglobin-6 3' breakpoint enhancer [Gene]
  • IGF2:insulin like growth factor 2 [Gene - OMIM - HGNC]
  • LOC109623489:insulin repeat instability region [Gene]
  • INS:insulin [Gene - OMIM - HGNC]
  • IFITM10:interferon induced transmembrane protein 10 [Gene - OMIM - HGNC]
  • IRF7:interferon regulatory factor 7 [Gene - OMIM - HGNC]
  • KRTAP5-1:keratin associated protein 5-1 [Gene - OMIM - HGNC]
  • KRTAP5-2:keratin associated protein 5-2 [Gene - HGNC]
  • KRTAP5-3:keratin associated protein 5-3 [Gene - HGNC]
  • KRTAP5-4:keratin associated protein 5-4 [Gene - HGNC]
  • KRTAP5-5:keratin associated protein 5-5 [Gene - HGNC]
  • KRTAP5-6:keratin associated protein 5-6 [Gene - HGNC]
  • LMNTD2:lamin tail domain containing 2 [Gene - HGNC]
  • LRRC56:leucine rich repeat containing 56 [Gene - OMIM - HGNC]
  • LINC01150:long intergenic non-protein coding RNA 1150 [Gene - HGNC]
  • LINC01219:long intergenic non-protein coding RNA 1219 [Gene - HGNC]
  • LINC02688:long intergenic non-protein coding RNA 2688 [Gene - HGNC]
  • LINC02708:long intergenic non-protein coding RNA 2708 [Gene - HGNC]
  • LINC02749:long intergenic non-protein coding RNA 2749 [Gene - HGNC]
  • LSP1:lymphocyte specific protein 1 [Gene - OMIM - HGNC]
  • MMP26:matrix metallopeptidase 26 [Gene - OMIM - HGNC]
  • MIR210:microRNA 210 [Gene - OMIM - HGNC]
  • MIR4298:microRNA 4298 [Gene - HGNC]
  • MIR4686:microRNA 4686 [Gene - HGNC]
  • MIR4687:microRNA 4687 [Gene - HGNC]
  • MIR483:microRNA 483 [Gene - HGNC]
  • MIR6744:microRNA 6744 [Gene - HGNC]
  • MIR675:microRNA 675 [Gene - OMIM - HGNC]
  • MIR7847:microRNA 7847 [Gene - HGNC]
  • MRPL23:mitochondrial ribosomal protein L23 [Gene - OMIM - HGNC]
  • MUC2:mucin 2, oligomeric mucus/gel-forming [Gene - OMIM - HGNC]
  • MUC5AC:mucin 5AC, oligomeric mucus/gel-forming [Gene - OMIM - HGNC]
  • MUC5B:mucin 5B, oligomeric mucus/gel-forming [Gene - OMIM - HGNC]
  • MUC6:mucin 6, oligomeric mucus/gel-forming [Gene - OMIM - HGNC]
  • LOC106783508:nonconserved acetylation island sequence 52 enhancer [Gene]
  • LOC106799843:nonconserved acetylation island sequence 93 enhancer [Gene]
  • NUP98:nucleoporin 98 and 96 precursor [Gene - OMIM - HGNC]
  • LOC106865369:nucleoporin 98kDa recombination region [Gene]
  • NAP1L4:nucleosome assembly protein 1 like 4 [Gene - OMIM - HGNC]
  • OR51A2:olfactory receptor family 51 subfamily A member 2 [Gene - HGNC]
  • OR51A4:olfactory receptor family 51 subfamily A member 4 [Gene - HGNC]
  • OR51A7:olfactory receptor family 51 subfamily A member 7 [Gene - HGNC]
  • OR51C1P:olfactory receptor family 51 subfamily C member 1 pseudogene [Gene - HGNC]
  • OR51D1:olfactory receptor family 51 subfamily D member 1 [Gene - HGNC]
  • OR51E1:olfactory receptor family 51 subfamily E member 1 [Gene - OMIM - HGNC]
  • OR51E2:olfactory receptor family 51 subfamily E member 2 [Gene - OMIM - HGNC]
  • OR51F1:olfactory receptor family 51 subfamily F member 1 [Gene - HGNC]
  • OR51F2:olfactory receptor family 51 subfamily F member 2 [Gene - HGNC]
  • OR51G1:olfactory receptor family 51 subfamily G member 1 [Gene - HGNC]
  • OR51G2:olfactory receptor family 51 subfamily G member 2 [Gene - HGNC]
  • OR51L1:olfactory receptor family 51 subfamily L member 1 [Gene - HGNC]
  • OR51S1:olfactory receptor family 51 subfamily S member 1 [Gene - HGNC]
  • OR51T1:olfactory receptor family 51 subfamily T member 1 [Gene - HGNC]
  • OR51V1:olfactory receptor family 51 subfamily V member 1 [Gene - HGNC]
  • OR52A1:olfactory receptor family 52 subfamily A member 1 [Gene - HGNC]
  • OR52A5:olfactory receptor family 52 subfamily A member 5 [Gene - HGNC]
  • OR52B4:olfactory receptor family 52 subfamily B member 4 [Gene - HGNC]
  • OR52E1:olfactory receptor family 52 subfamily E member 1 (gene/pseudogene) [Gene - HGNC]
  • OR52E2:olfactory receptor family 52 subfamily E member 2 [Gene - HGNC]
  • OR52I1:olfactory receptor family 52 subfamily I member 1 [Gene - HGNC]
  • OR52I2:olfactory receptor family 52 subfamily I member 2 [Gene - HGNC]
  • OR52J3:olfactory receptor family 52 subfamily J member 3 [Gene - HGNC]
  • OR52K1:olfactory receptor family 52 subfamily K member 1 [Gene - HGNC]
  • OR52K2:olfactory receptor family 52 subfamily K member 2 [Gene - HGNC]
  • OR52M1:olfactory receptor family 52 subfamily M member 1 [Gene - HGNC]
  • OR52R1:olfactory receptor family 52 subfamily R member 1 [Gene - HGNC]
  • LOC107133510:origin of replication at HBB [Gene]
  • OSBPL5:oxysterol binding protein like 5 [Gene - OMIM - HGNC]
  • PIDD1:p53-induced death domain protein 1 [Gene - OMIM - HGNC]
  • PNPLA2:patatin like phospholipase domain containing 2 [Gene - OMIM - HGNC]
  • PHLDA2:pleckstrin homology like domain family A member 2 [Gene - OMIM - HGNC]
  • PGAP2:post-GPI attachment to proteins 2 [Gene - OMIM - HGNC]
  • KCNQ1:potassium voltage-gated channel subfamily Q member 1 [Gene - OMIM - HGNC]
  • PANO1:proapoptotic nucleolar protein 1 [Gene - HGNC]
  • PRR33:proline rich 33 [Gene - HGNC]
  • RHOG:ras homolog family member G [Gene - OMIM - HGNC]
  • RNH1:ribonuclease/angiogenin inhibitor 1 [Gene - OMIM - HGNC]
  • RRM1:ribonucleotide reductase catalytic subunit M1 [Gene - OMIM - HGNC]
  • RPLP2:ribosomal protein lateral stalk subunit P2 [Gene - OMIM - HGNC]
  • SCT:secretin [Gene - OMIM - HGNC]
  • LOC111718490:skeletal muscle cis-regulatory module in IFITM10 intron [Gene]
  • SNORD131:small nucleolar RNA, C/D box 131 [Gene - HGNC]
  • SNORA52:small nucleolar RNA, H/ACA box 52 [Gene - HGNC]
  • SNORA54:small nucleolar RNA, H/ACA box 54 [Gene - HGNC]
  • SLC22A18:solute carrier family 22 member 18 [Gene - OMIM - HGNC]
  • SLC25A22:solute carrier family 25 member 22 [Gene - OMIM - HGNC]
  • STIM1:stromal interaction molecule 1 [Gene - OMIM - HGNC]
  • SYT8:synaptotagmin 8 [Gene - OMIM - HGNC]
  • TSPAN32:tetraspanin 32 [Gene - OMIM - HGNC]
  • TSPAN4:tetraspanin 4 [Gene - OMIM - HGNC]
  • TOLLIP:toll interacting protein [Gene - OMIM - HGNC]
  • TALDO1:transaldolase 1 [Gene - OMIM - HGNC]
  • TRPM5:transient receptor potential cation channel subfamily M member 5 [Gene - OMIM - HGNC]
  • TMEM80:transmembrane protein 80 [Gene - OMIM - HGNC]
  • TRIM21:tripartite motif containing 21 [Gene - OMIM - HGNC]
  • TRIM68:tripartite motif containing 68 [Gene - OMIM - HGNC]
  • TNNI2:troponin I2, fast skeletal type [Gene - OMIM - HGNC]
  • TNNT3:troponin T3, fast skeletal type [Gene - OMIM - HGNC]
  • TSSC4:tumor suppressing subtransferable candidate 4 [Gene - OMIM - HGNC]
  • TH:tyrosine hydroxylase [Gene - OMIM - HGNC]
  • LOC101927708:uncharacterized LOC101927708 [Gene]
  • LOC105376526:uncharacterized LOC105376526 [Gene]
  • LOC143666:uncharacterized LOC143666 [Gene]
  • ZNF195:zinc finger protein 195 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
11p15.5-15.4
Genomic location:
Chr11: 499700 - 5279697 (on Assembly GRCh38)
Preferred name:
NC_000011.10:g.(499700_4999400)_(5279346_5279697)del
HGVS:
NC_000011.10:g.(499700_4999400)_(5279346_5279697)del
Note:
NCBI staff provided an HGVS expression for allelic variant 152424.0001 based on the description in the paper by Driscoll et al., 1989 (PubMed 2798417) that the deletion extended upstream from a point between an intact XbaI site ~-9.5 kb of HbE and the probe AGCGAAACCGAGTAGACTG.
Nucleotide change:
30-KB DEL
Links:
OMIM: 152424.0001

Condition(s)

Name:
Thalassemia, gamma-delta-beta
Identifiers:
MedGen: C4016247

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000035794OMIM
no assertion criteria provided
Pathogenic
(Oct 1, 1989) 		germlineliterature only

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

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Gamma delta beta-thalassemia due to a de novo mutation deleting the 5' beta-globin gene activation-region hypersensitive sites.

Driscoll MC, Dobkin CS, Alter BP.

Proc Natl Acad Sci U S A. 1989 Oct;86(19):7470-4.

PubMed [citation]
PMID:
2798417
PMCID:
PMC298086

Details of each submission

From OMIM, SCV000035794.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

Driscoll et al. (1989) described a Hispanic patient with gamma-delta-beta thalassemia (see 613985) caused by a de novo deletion of approximately 30 kb 5-prime to the HBE1 gene that included LCRB.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 14, 2023