ASB10 (ankyrin repeat and SOCS box containing 10) - Rat Genome Database

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Gene: ASB10 (ankyrin repeat and SOCS box containing 10) Homo sapiens
Analyze
Symbol: ASB10
Name: ankyrin repeat and SOCS box containing 10
RGD ID: 1353086
HGNC Page HGNC:17185
Description: Predicted to enable chloroplast targeting sequence binding activity. Predicted to be involved in several processes, including protein targeting to chloroplast; protein ubiquitination; and regulation of signal transduction. Located in cytoplasm and nucleus.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ankyrin repeat and SOCS box protein 10; ankyrin repeat and SOCS box-containing 10; glaucoma 1, open angle, F (adult-onset); GLC1F
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
GRCh387151,175,698 - 151,187,792 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7151,175,698 - 151,187,832 (-)EnsemblGRCh38hg38GRCh38
GRCh377150,872,785 - 150,884,879 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 367150,503,718 - 150,515,411 (-)NCBINCBI36Build 36hg18NCBI36
Build 347150,310,432 - 150,322,126NCBI
Celera7145,430,126 - 145,442,260 (-)NCBICelera
Cytogenetic Map7q36.1NCBI
HuRef7144,683,659 - 144,695,741 (-)NCBIHuRef
CHM1_17150,881,185 - 150,893,318 (-)NCBICHM1_1
T2T-CHM13v2.07152,348,791 - 152,360,884 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v27150,202,306 - 150,214,439 (-)NCBI
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

Cellular Component
cytoplasm  (IDA,IEA)
cytosol  (IEA,TAS)
nucleus  (IDA,IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:12076535   PMID:12477932   PMID:12690205   PMID:14702039   PMID:15489334   PMID:16325183   PMID:16344560   PMID:20309402   PMID:21988832   PMID:22156576   PMID:22798626   PMID:23455924  
PMID:23901248   PMID:24337577   PMID:26713451   PMID:28514442   PMID:31522561   PMID:32296183   PMID:33961781   PMID:34285210  


Genomics

Comparative Map Data
ASB10
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh387151,175,698 - 151,187,792 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7151,175,698 - 151,187,832 (-)EnsemblGRCh38hg38GRCh38
GRCh377150,872,785 - 150,884,879 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 367150,503,718 - 150,515,411 (-)NCBINCBI36Build 36hg18NCBI36
Build 347150,310,432 - 150,322,126NCBI
Celera7145,430,126 - 145,442,260 (-)NCBICelera
Cytogenetic Map7q36.1NCBI
HuRef7144,683,659 - 144,695,741 (-)NCBIHuRef
CHM1_17150,881,185 - 150,893,318 (-)NCBICHM1_1
T2T-CHM13v2.07152,348,791 - 152,360,884 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v27150,202,306 - 150,214,439 (-)NCBI
Asb10
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39524,737,695 - 24,745,976 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl524,737,695 - 24,745,976 (-)EnsemblGRCm39 Ensembl
GRCm38524,532,697 - 24,540,978 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl524,532,697 - 24,540,978 (-)EnsemblGRCm38mm10GRCm38
MGSCv37524,038,515 - 24,046,266 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36524,042,762 - 24,050,513 (-)NCBIMGSCv36mm8
Celera521,482,815 - 21,490,533 (-)NCBICelera
Cytogenetic Map5A3NCBI
cM Map511.93NCBI
Asb10
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8411,522,531 - 11,531,946 (+)NCBIGRCr8
mRatBN7.2410,630,318 - 10,644,270 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl410,630,448 - 10,639,060 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx415,777,065 - 15,785,594 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0411,597,256 - 11,605,785 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.049,949,036 - 9,957,565 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.047,158,293 - 7,167,505 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl47,158,448 - 7,167,509 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.047,170,905 - 7,180,029 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.446,010,913 - 6,019,444 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera46,246,912 - 6,255,443 (+)NCBICelera
Cytogenetic Map4q11NCBI
Asb10
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554915,597,485 - 5,609,086 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554915,597,623 - 5,609,086 (-)NCBIChiLan1.0ChiLan1.0
ASB10
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v26187,597,655 - 187,609,829 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1739,607,921 - 39,620,095 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v07142,762,583 - 142,774,796 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.17154,914,516 - 154,926,719 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl7154,914,930 - 154,926,719 (-)Ensemblpanpan1.1panPan2
ASB10
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11615,220,042 - 15,230,702 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1615,220,507 - 15,230,134 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1615,828,053 - 15,839,835 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01616,942,250 - 16,954,034 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1616,942,716 - 16,952,054 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11615,314,422 - 15,326,202 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01615,896,020 - 15,906,663 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01615,946,697 - 15,958,460 (-)NCBIUU_Cfam_GSD_1.0
Asb10
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244051186,304,226 - 6,314,358 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365276,589,021 - 6,598,591 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365276,589,105 - 6,598,591 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ASB10
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl186,039,507 - 6,049,861 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1186,039,253 - 6,050,335 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2186,403,355 - 6,414,192 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ASB10
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.121119,360,034 - 119,372,779 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl21119,360,450 - 119,371,197 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607215,330,670 - 15,342,699 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Asb10
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248005,450,660 - 5,459,524 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248005,450,695 - 5,459,221 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ASB10
126 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001142459.2(ASB10):c.810C>T (p.Thr270=) single nucleotide variant Glaucoma 1, open angle, F [RCV000043656] Chr7:151181233 [GRCh38]
Chr7:150878320 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_001142459.2(ASB10):c.564C>A (p.Cys188Ter) single nucleotide variant Glaucoma 1, open angle, F [RCV000043657] Chr7:151186412 [GRCh38]
Chr7:150883499 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_001142459.2(ASB10):c.619G>C (p.Val207Leu) single nucleotide variant ASB10-related condition [RCV003915009]|Glaucoma 1, open angle, F [RCV000043658]|not provided [RCV001498843] Chr7:151181424 [GRCh38]
Chr7:150878511 [GRCh37]
Chr7:7q36.1		 pathogenic|benign|likely benign
NM_001142459.2(ASB10):c.215G>A (p.Arg72His) single nucleotide variant Glaucoma 1, open angle, F [RCV000043659]|not provided [RCV000970678] Chr7:151186916 [GRCh38]
Chr7:150884003 [GRCh37]
Chr7:7q36.1		 pathogenic|likely benign
GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3 copy number gain See cases [RCV000050876] Chr7:129310166..159282390 [GRCh38]
Chr7:128950007..159075079 [GRCh37]
Chr7:128737243..158767840 [NCBI36]
Chr7:7q32.1-36.3		 pathogenic
GRCh38/hg38 7q36.1(chr7:150319864-152674271)x1 copy number loss See cases [RCV000050552] Chr7:150319864..152674271 [GRCh38]
Chr7:150016953..152371356 [GRCh37]
Chr7:149647886..152002289 [NCBI36]
Chr7:7q36.1		 pathogenic
GRCh38/hg38 7q35-36.1(chr7:143884559-152674271)x1 copy number loss See cases [RCV000050750] Chr7:143884559..152674271 [GRCh38]
Chr7:143581652..152371356 [GRCh37]
Chr7:143212585..152002289 [NCBI36]
Chr7:7q35-36.1		 pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3 copy number gain See cases [RCV000051101] Chr7:132850196..159325876 [GRCh38]
Chr7:132534956..159118566 [GRCh37]
Chr7:132185496..158811327 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh38/hg38 7q35-36.3(chr7:147250465-159325876)x1 copy number loss See cases [RCV000051108] Chr7:147250465..159325876 [GRCh38]
Chr7:146947557..159118566 [GRCh37]
Chr7:146578490..158811327 [NCBI36]
Chr7:7q35-36.3		 pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3 copy number gain See cases [RCV000053576] Chr7:136309982..159307523 [GRCh38]
Chr7:135994730..159100212 [GRCh37]
Chr7:135645270..158792973 [NCBI36]
Chr7:7q33-36.3		 pathogenic
GRCh38/hg38 7q34-36.3(chr7:142021716-159325876)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053577]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053577]|See cases [RCV000053577] Chr7:142021716..159325876 [GRCh38]
Chr7:142528609..159118566 [GRCh37]
Chr7:141367985..158811327 [NCBI36]
Chr7:7q34-36.3		 pathogenic
GRCh38/hg38 7q35-36.3(chr7:143884559-159282390)x1 copy number loss See cases [RCV000054178] Chr7:143884559..159282390 [GRCh38]
Chr7:143581652..159075079 [GRCh37]
Chr7:143212585..158767840 [NCBI36]
Chr7:7q35-36.3		 pathogenic
GRCh38/hg38 7q35-36.3(chr7:145699944-159296617)x1 copy number loss See cases [RCV000054188] Chr7:145699944..159296617 [GRCh38]
Chr7:145397037..159089306 [GRCh37]
Chr7:145027970..158782067 [NCBI36]
Chr7:7q35-36.3		 pathogenic
GRCh38/hg38 7q34-36.3(chr7:139365967-159282531)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054175]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054175]|See cases [RCV000054175] Chr7:139365967..159282531 [GRCh38]
Chr7:139050713..159075220 [GRCh37]
Chr7:138701253..158767981 [NCBI36]
Chr7:7q34-36.3		 pathogenic
GRCh38/hg38 7q34-36.3(chr7:142358524-159282531)x1 copy number loss See cases [RCV000054177] Chr7:142358524..159282531 [GRCh38]
Chr7:142528609..159075220 [GRCh37]
Chr7:141726947..158767981 [NCBI36]
Chr7:7q34-36.3		 pathogenic
NM_001142459.2(ASB10):c.271G>T (p.Asp91Tyr) single nucleotide variant Glaucoma 1, open angle, F [RCV000086395]|not provided [RCV003546468] Chr7:151186860 [GRCh38]
Chr7:150883947 [GRCh37]
Chr7:7q36.1		 uncertain significance|not provided
GRCh38/hg38 7q36.1(chr7:148256584-152332535)x1 copy number loss See cases [RCV000054189] Chr7:148256584..152332535 [GRCh38]
Chr7:147953676..152029620 [GRCh37]
Chr7:147584609..151660553 [NCBI36]
Chr7:7q36.1		 pathogenic
GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1 copy number loss See cases [RCV000054176] Chr7:140754198..159307523 [GRCh38]
Chr7:140453998..159100212 [GRCh37]
Chr7:140100467..158792973 [NCBI36]
Chr7:7q34-36.3		 pathogenic
NM_001142459.2(ASB10):c.224C>A (p.Ala75Glu) single nucleotide variant Glaucoma 1, open angle, F [RCV000086394]|not provided [RCV000968118] Chr7:151186907 [GRCh38]
Chr7:150883994 [GRCh37]
Chr7:7q36.1		 benign|likely benign|not provided
NM_001142459.2(ASB10):c.1046T>C (p.Val349Ala) single nucleotide variant Glaucoma 1, open angle, F [RCV000086396]|not provided [RCV002513929] Chr7:151180997 [GRCh38]
Chr7:150878084 [GRCh37]
Chr7:7q36.1		 uncertain significance|not provided
NM_001142459.2(ASB10):c.1078C>T (p.Arg360Cys) single nucleotide variant Glaucoma 1, open angle, F [RCV000086397]|not provided [RCV002055257] Chr7:151180965 [GRCh38]
Chr7:150878052 [GRCh37]
Chr7:7q36.1		 benign|not provided
NM_001142459.2(ASB10):c.1096C>T (p.Leu366Phe) single nucleotide variant Glaucoma 1, open angle, F [RCV000086398] Chr7:151180947 [GRCh38]
Chr7:150878034 [GRCh37]
Chr7:7q36.1		 not provided
NM_080871.4(ASB10):c.115C>T (p.Arg39Trp) single nucleotide variant Glaucoma 1, open angle, F [RCV000086399] Chr7:151187608 [GRCh38]
Chr7:150884695 [GRCh37]
Chr7:7q36.1		 not provided
NM_080871.4(ASB10):c.116G>A (p.Arg39Gln) single nucleotide variant Glaucoma 1, open angle, F [RCV000086400] Chr7:151187607 [GRCh38]
Chr7:150884694 [GRCh37]
Chr7:7q36.1		 not provided
NM_001142459.2(ASB10):c.1272G>A (p.Ser424=) single nucleotide variant Glaucoma 1, open angle, F [RCV000086401]|not provided [RCV000953138] Chr7:151176244 [GRCh38]
Chr7:150873331 [GRCh37]
Chr7:7q36.1		 benign|likely benign|not provided
NM_001142459.2(ASB10):c.1318A>G (p.Ser440Gly) single nucleotide variant Glaucoma 1, open angle, F [RCV000086402] Chr7:151176198 [GRCh38]
Chr7:150873285 [GRCh37]
Chr7:7q36.1		 not provided
NM_080871.4(ASB10):c.176T>C (p.Leu59Pro) single nucleotide variant Glaucoma 1, open angle, F [RCV000086403] Chr7:151187547 [GRCh38]
Chr7:150884634 [GRCh37]
Chr7:7q36.1		 not provided
NM_080871.4(ASB10):c.204G>T (p.Pro68=) single nucleotide variant Glaucoma 1, open angle, F [RCV000086404] Chr7:151187519 [GRCh38]
Chr7:150884606 [GRCh37]
Chr7:7q36.1		 not provided
NM_001142459.2(ASB10):c.470C>T (p.Ala157Val) single nucleotide variant Glaucoma 1, open angle, F [RCV000086405]|not provided [RCV001664397] Chr7:151186506 [GRCh38]
Chr7:150883593 [GRCh37]
Chr7:7q36.1		 benign|not provided
NM_001142459.2(ASB10):c.487T>A (p.Cys163Ser) single nucleotide variant Glaucoma 1, open angle, F [RCV000086406] Chr7:151186489 [GRCh38]
Chr7:150883576 [GRCh37]
Chr7:7q36.1		 not provided
NM_001142459.2(ASB10):c.516C>T (p.Ala172=) single nucleotide variant Glaucoma 1, open angle, F [RCV000086407]|not provided [RCV002055258] Chr7:151186460 [GRCh38]
Chr7:150883547 [GRCh37]
Chr7:7q36.1		 benign|not provided
NM_001142459.2(ASB10):c.524A>C (p.Asn175Thr) single nucleotide variant Glaucoma 1, open angle, F [RCV000086408] Chr7:151186452 [GRCh38]
Chr7:150883539 [GRCh37]
Chr7:7q36.1		 not provided
NM_001142459.2(ASB10):c.565C>T (p.Arg189Trp) single nucleotide variant Glaucoma 1, open angle, F [RCV000086409]|not provided [RCV002514531] Chr7:151186411 [GRCh38]
Chr7:150883498 [GRCh37]
Chr7:7q36.1		 likely benign|not provided
NM_080871.4(ASB10):c.55C>T (p.Pro19Ser) single nucleotide variant Glaucoma 1, open angle, F [RCV000086410]|not provided [RCV003542285] Chr7:151187668 [GRCh38]
Chr7:150884755 [GRCh37]
Chr7:7q36.1		 likely benign|not provided
NM_080871.4(ASB10):c.56C>G (p.Pro19Arg) single nucleotide variant Glaucoma 1, open angle, F [RCV000086411]|not provided [RCV001723673] Chr7:151187667 [GRCh38]
Chr7:150884754 [GRCh37]
Chr7:7q36.1		 benign|not provided
NM_080871.4(ASB10):c.60C>T (p.Ser20=) single nucleotide variant Glaucoma 1, open angle, F [RCV000086412] Chr7:151187663 [GRCh38]
Chr7:150884750 [GRCh37]
Chr7:7q36.1		 not provided
NM_001142459.2(ASB10):c.731G>A (p.Arg244His) single nucleotide variant Glaucoma 1, open angle, F [RCV000086413]|not provided [RCV001358001] Chr7:151181312 [GRCh38]
Chr7:150878399 [GRCh37]
Chr7:7q36.1		 benign|uncertain significance|not provided
NM_001142459.2(ASB10):c.737C>A (p.Ala246Asp) single nucleotide variant Glaucoma 1, open angle, F [RCV000086414]|not specified [RCV004019589] Chr7:151181306 [GRCh38]
Chr7:150878393 [GRCh37]
Chr7:7q36.1		 uncertain significance|not provided
NM_001142459.2(ASB10):c.908G>A (p.Arg303His) single nucleotide variant Glaucoma 1, open angle, F [RCV000086415] Chr7:151181135 [GRCh38]
Chr7:150878222 [GRCh37]
Chr7:7q36.1		 not provided
NM_001142459.2(ASB10):c.910C>T (p.Arg304Cys) single nucleotide variant Glaucoma 1, open angle, F [RCV000086416]|not provided [RCV000974090] Chr7:151181133 [GRCh38]
Chr7:150878220 [GRCh37]
Chr7:7q36.1		 benign|not provided
NM_001142459.2(ASB10):c.986C>T (p.Thr329Met) single nucleotide variant Glaucoma 1, open angle, F [RCV000086417]|not provided [RCV002055259] Chr7:151181057 [GRCh38]
Chr7:150878144 [GRCh37]
Chr7:7q36.1		 likely benign|not provided
NM_080871.4(ASB10):c.94C>A (p.Arg32Ser) single nucleotide variant Glaucoma 1, open angle, F [RCV000086418] Chr7:151187629 [GRCh38]
Chr7:150884716 [GRCh37]
Chr7:7q36.1		 not provided
NM_001142459.2(ASB10):c.996C>G (p.His332Gln) single nucleotide variant Glaucoma 1, open angle, F [RCV000086419] Chr7:151181047 [GRCh38]
Chr7:150878134 [GRCh37]
Chr7:7q36.1		 not provided
NM_001142459.2(ASB10):c.105T>G (p.Ser35=) single nucleotide variant Glaucoma 1, open angle, F [RCV000086420] Chr7:151187026 [GRCh38]
Chr7:150884113 [GRCh37]
Chr7:7q36.1		 not provided
NM_001142459.2(ASB10):c.143C>G (p.Thr48Ser) single nucleotide variant Glaucoma 1, open angle, F [RCV000086421]|not provided [RCV002513930] Chr7:151186988 [GRCh38]
Chr7:150884075 [GRCh37]
Chr7:7q36.1		 uncertain significance|not provided
NM_001142459.2(ASB10):c.199G>A (p.Val67Met) single nucleotide variant Glaucoma 1, open angle, F [RCV000086422] Chr7:151186932 [GRCh38]
Chr7:150884019 [GRCh37]
Chr7:7q36.1		 not provided
NM_001142459.2(ASB10):c.204C>G (p.Gly68=) single nucleotide variant Glaucoma 1, open angle, F [RCV000086423] Chr7:151186927 [GRCh38]
Chr7:150884014 [GRCh37]
Chr7:7q36.1		 not provided
NM_001142459.2(ASB10):c.225G>A (p.Ala75=) single nucleotide variant Glaucoma 1, open angle, F [RCV000086424] Chr7:151186906 [GRCh38]
Chr7:150883993 [GRCh37]
Chr7:7q36.1		 not provided
NM_001142459.2(ASB10):c.263A>T (p.Asp88Val) single nucleotide variant Glaucoma 1, open angle, F [RCV000086425] Chr7:151186868 [GRCh38]
Chr7:150883955 [GRCh37]
Chr7:7q36.1		 not provided
NM_001142459.2(ASB10):c.281G>A (p.Arg94Gln) single nucleotide variant Glaucoma 1, open angle, F [RCV000086426]|not provided [RCV002225288] Chr7:151186850 [GRCh38]
Chr7:150883937 [GRCh37]
Chr7:7q36.1		 likely benign|not provided
NM_001142459.2(ASB10):c.291T>A (p.Asp97Glu) single nucleotide variant Glaucoma 1, open angle, F [RCV000086427]|not provided [RCV002513931] Chr7:151186840 [GRCh38]
Chr7:150883927 [GRCh37]
Chr7:7q36.1		 uncertain significance|not provided
NM_001142459.2(ASB10):c.1066C>T (p.His356Tyr) single nucleotide variant Glaucoma 1, open angle, F [RCV000086428] Chr7:151180977 [GRCh38]
Chr7:150878064 [GRCh37]
Chr7:7q36.1		 not provided
NM_001142459.2(ASB10):c.1079G>A (p.Arg360His) single nucleotide variant Glaucoma 1, open angle, F [RCV000086429] Chr7:151180964 [GRCh38]
Chr7:150878051 [GRCh37]
Chr7:7q36.1		 not provided
NM_001142459.2(ASB10):c.1092G>T (p.Gly364=) single nucleotide variant Glaucoma 1, open angle, F [RCV000086430] Chr7:151180951 [GRCh38]
Chr7:150878038 [GRCh37]
Chr7:7q36.1		 not provided
NM_080871.4(ASB10):c.204G>A (p.Pro68=) single nucleotide variant Glaucoma 1, open angle, F [RCV000086431] Chr7:151187519 [GRCh38]
Chr7:150884606 [GRCh37]
Chr7:7q36.1		 not provided
NM_001142459.2(ASB10):c.515C>T (p.Ala172Val) single nucleotide variant Glaucoma 1, open angle, F [RCV000086432] Chr7:151186461 [GRCh38]
Chr7:150883548 [GRCh37]
Chr7:7q36.1		 not provided
NM_001142459.2(ASB10):c.547C>T (p.Arg183Cys) single nucleotide variant Glaucoma 1, open angle, F [RCV000086433] Chr7:151186429 [GRCh38]
Chr7:150883516 [GRCh37]
Chr7:7q36.1		 not provided
NM_001142459.2(ASB10):c.590C>T (p.Ala197Val) single nucleotide variant Glaucoma 1, open angle, F [RCV000086434] Chr7:151181453 [GRCh38]
Chr7:150878540 [GRCh37]
Chr7:7q36.1		 not provided
NM_001142459.2(ASB10):c.628C>A (p.Arg210=) single nucleotide variant Glaucoma 1, open angle, F [RCV000086435] Chr7:151181415 [GRCh38]
Chr7:150878502 [GRCh37]
Chr7:7q36.1		 not provided
NM_001142459.2(ASB10):c.714G>A (p.Gly238=) single nucleotide variant Glaucoma 1, open angle, F [RCV000086436]|not provided [RCV003546469] Chr7:151181329 [GRCh38]
Chr7:150878416 [GRCh37]
Chr7:7q36.1		 benign|not provided
NM_001142459.2(ASB10):c.815G>A (p.Arg272His) single nucleotide variant Glaucoma 1, open angle, F [RCV000086437] Chr7:151181228 [GRCh38]
Chr7:150878315 [GRCh37]
Chr7:7q36.1		 not provided
NM_001142459.2(ASB10):c.884A>T (p.Gln295Leu) single nucleotide variant Glaucoma 1, open angle, F [RCV000086438] Chr7:151181159 [GRCh38]
Chr7:150878246 [GRCh37]
Chr7:7q36.1		 not provided
NM_001142459.2(ASB10):c.958G>A (p.Ala320Thr) single nucleotide variant Glaucoma 1, open angle, F [RCV000086439] Chr7:151181085 [GRCh38]
Chr7:150878172 [GRCh37]
Chr7:7q36.1		 not provided
NM_001142459.2(ASB10):c.1024C>T (p.Leu342=) single nucleotide variant Glaucoma 1, open angle, F [RCV000086440]|not provided [RCV002055260] Chr7:151181019 [GRCh38]
Chr7:150878106 [GRCh37]
Chr7:7q36.1		 benign|not provided
NM_001142459.2(ASB10):c.194G>A (p.Gly65Glu) single nucleotide variant not provided [RCV000086441] Chr7:151186937 [GRCh38]
Chr7:150884024 [GRCh37]
Chr7:7q36.1		 not provided
GRCh38/hg38 7q33-36.2(chr7:137751200-154815582)x3 copy number gain See cases [RCV000136592] Chr7:137751200..154815582 [GRCh38]
Chr7:137435946..154607292 [GRCh37]
Chr7:137086486..154238225 [NCBI36]
Chr7:7q33-36.2		 pathogenic
GRCh38/hg38 7q36.1-36.3(chr7:150486071-159335865)x1 copy number loss See cases [RCV000136089] Chr7:150486071..159335865 [GRCh38]
Chr7:150183159..159128555 [GRCh37]
Chr7:149814092..158821316 [NCBI36]
Chr7:7q36.1-36.3		 pathogenic
GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3 copy number gain See cases [RCV000136717] Chr7:97419852..158923762 [GRCh38]
Chr7:97049164..158716453 [GRCh37]
Chr7:96887100..158409214 [NCBI36]
Chr7:7q21.3-36.3		 pathogenic
GRCh38/hg38 7q36.1-36.3(chr7:151104277-159325876)x3 copy number gain See cases [RCV000136683] Chr7:151104277..159325876 [GRCh38]
Chr7:150801364..159118566 [GRCh37]
Chr7:150432297..158811327 [NCBI36]
Chr7:7q36.1-36.3		 pathogenic
GRCh38/hg38 7q36.1-36.3(chr7:150802801-159335866)x1 copy number loss See cases [RCV000137465] Chr7:150802801..159335866 [GRCh38]
Chr7:150499889..159128556 [GRCh37]
Chr7:150130822..158821317 [NCBI36]
Chr7:7q36.1-36.3		 pathogenic
GRCh38/hg38 7q34-36.3(chr7:141960861-159335866)x1 copy number loss See cases [RCV000137256] Chr7:141960861..159335866 [GRCh38]
Chr7:142528609..159128556 [GRCh37]
Chr7:141307130..158821317 [NCBI36]
Chr7:7q34-36.3		 pathogenic
GRCh38/hg38 7q35-36.3(chr7:146047157-157522158)x1 copy number loss See cases [RCV000137781] Chr7:146047157..157522158 [GRCh38]
Chr7:145744250..157314852 [GRCh37]
Chr7:145375183..157007613 [NCBI36]
Chr7:7q35-36.3		 pathogenic
GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3 copy number gain See cases [RCV000138847] Chr7:121863759..159335865 [GRCh38]
Chr7:121503813..159128555 [GRCh37]
Chr7:121291049..158821316 [NCBI36]
Chr7:7q31.32-36.3		 pathogenic
GRCh38/hg38 7q36.1-36.2(chr7:150113232-154162779)x3 copy number gain See cases [RCV000138566] Chr7:150113232..154162779 [GRCh38]
Chr7:149810321..153859864 [GRCh37]
Chr7:149441254..153490797 [NCBI36]
Chr7:7q36.1-36.2		 likely pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3 copy number gain See cases [RCV000139654] Chr7:132444095..159335866 [GRCh38]
Chr7:132128854..159128556 [GRCh37]
Chr7:131779394..158821317 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh38/hg38 7q36.1-36.2(chr7:150275734-153342804)x3 copy number gain See cases [RCV000139660] Chr7:150275734..153342804 [GRCh38]
Chr7:149972823..153039889 [GRCh37]
Chr7:149603756..152670822 [NCBI36]
Chr7:7q36.1-36.2		 uncertain significance
GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3 copy number gain See cases [RCV000141413] Chr7:115459015..159325817 [GRCh38]
Chr7:115099069..159118507 [GRCh37]
Chr7:114886305..158811268 [NCBI36]
Chr7:7q31.2-36.3		 pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3 copy number gain See cases [RCV000142802] Chr7:131228764..159335866 [GRCh38]
Chr7:130913523..159128556 [GRCh37]
Chr7:130564063..158821317 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh38/hg38 7q36.1-36.3(chr7:150260297-159325876)x1 copy number loss See cases [RCV000142592] Chr7:150260297..159325876 [GRCh38]
Chr7:149957386..159118566 [GRCh37]
Chr7:149588319..158811327 [NCBI36]
Chr7:7q36.1-36.3		 pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3 copy number gain See cases [RCV000143754] Chr7:131171478..159327017 [GRCh38]
Chr7:130856237..159119707 [GRCh37]
Chr7:130506777..158812468 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3 copy number gain See cases [RCV000143707] Chr7:132438072..159327017 [GRCh38]
Chr7:132122831..159119707 [GRCh37]
Chr7:131773371..158812468 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q22.1-36.3(chr7:98969247-159119707)x3 copy number gain See cases [RCV000447709] Chr7:98969247..159119707 [GRCh37]
Chr7:7q22.1-36.3		 pathogenic
GRCh37/hg19 7q33-36.3(chr7:133799185-159119707)x1 copy number loss See cases [RCV000448836] Chr7:133799185..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
GRCh37/hg19 7q32.1-36.3(chr7:128276078-159119707)x3 copy number gain See cases [RCV000447956] Chr7:128276078..159119707 [GRCh37]
Chr7:7q32.1-36.3		 pathogenic
NM_001142459.2(ASB10):c.-67CT[8] microsatellite not specified [RCV000454657] Chr7:151187180..151187181 [GRCh38]
Chr7:150884267..150884268 [GRCh37]
Chr7:7q36.1		 benign
NM_001142459.2(ASB10):c.-67CT[10] microsatellite not provided [RCV001683472]|not specified [RCV000455884] Chr7:151187179..151187180 [GRCh38]
Chr7:150884266..150884267 [GRCh37]
Chr7:7q36.1		 benign
GRCh37/hg19 7q34-36.3(chr7:140636858-159119707)x1 copy number loss See cases [RCV000510250] Chr7:140636858..159119707 [GRCh37]
Chr7:7q34-36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q33-36.3(chr7:136758593-159119707)x3 copy number gain See cases [RCV000510490] Chr7:136758593..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
GRCh37/hg19 7q33-36.3(chr7:137917376-159119707)x1 copy number loss See cases [RCV000511889] Chr7:137917376..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_001142459.2(ASB10):c.257T>C (p.Val86Ala) single nucleotide variant not specified [RCV004307858] Chr7:151186874 [GRCh38]
Chr7:150883961 [GRCh37]
Chr7:7q36.1		 uncertain significance
NC_000007.13:g.(?_150642433)_(151573725_?)del deletion Long QT syndrome [RCV000631876] Chr7:150642433..151573725 [GRCh37]
Chr7:7q36.1		 pathogenic
GRCh37/hg19 7q34-36.3(chr7:140133025-158982771)x1 copy number loss not provided [RCV000682910] Chr7:140133025..158982771 [GRCh37]
Chr7:7q34-36.3		 pathogenic
GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3 copy number gain not provided [RCV000682911] Chr7:98693388..159119707 [GRCh37]
Chr7:7q22.1-36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q34-36.3(chr7:141938235-159126310)x1 copy number loss not provided [RCV000747083] Chr7:141938235..159126310 [GRCh37]
Chr7:7q34-36.3		 pathogenic
GRCh37/hg19 7q36.1-36.3(chr7:148238976-159126310)x1 copy number loss not provided [RCV000747115] Chr7:148238976..159126310 [GRCh37]
Chr7:7q36.1-36.3		 pathogenic
NM_001142459.2(ASB10):c.173T>C (p.Phe58Ser) single nucleotide variant not provided [RCV000916053] Chr7:151186958 [GRCh38]
Chr7:150884045 [GRCh37]
Chr7:7q36.1		 likely benign
NM_001142459.2(ASB10):c.584+192G>A single nucleotide variant not provided [RCV001644510] Chr7:151186200 [GRCh38]
Chr7:150883287 [GRCh37]
Chr7:7q36.1		 benign
NM_001142459.2(ASB10):c.1218+42T>C single nucleotide variant not provided [RCV001648481] Chr7:151176521 [GRCh38]
Chr7:150873608 [GRCh37]
Chr7:7q36.1		 benign
NC_000007.14:g.151188017G>A single nucleotide variant not provided [RCV001766299] Chr7:151188017 [GRCh38]
Chr7:150885104 [GRCh37]
Chr7:7q36.1		 likely benign
NM_001142459.2(ASB10):c.1104+144C>T single nucleotide variant not provided [RCV001669605] Chr7:151180795 [GRCh38]
Chr7:150877882 [GRCh37]
Chr7:7q36.1		 benign
NM_001142459.2(ASB10):c.1132C>T (p.Arg378Trp) single nucleotide variant ASB10-related condition [RCV003932858]|not provided [RCV000903192] Chr7:151176649 [GRCh38]
Chr7:150873736 [GRCh37]
Chr7:7q36.1		 benign
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_001142459.2(ASB10):c.870G>C (p.Ala290=) single nucleotide variant not provided [RCV000826394] Chr7:151181173 [GRCh38]
Chr7:150878260 [GRCh37]
Chr7:7q36.1		 benign
NM_001142459.2(ASB10):c.709C>G (p.Arg237Gly) single nucleotide variant Glaucoma 1, open angle, F [RCV002479120]|not provided [RCV000964482] Chr7:151181334 [GRCh38]
Chr7:150878421 [GRCh37]
Chr7:7q36.1		 benign|likely benign
NM_001142459.2(ASB10):c.392T>C (p.Val131Ala) single nucleotide variant not provided [RCV000902176] Chr7:151186584 [GRCh38]
Chr7:150883671 [GRCh37]
Chr7:7q36.1		 benign
GRCh37/hg19 7q32.1-36.3(chr7:128312450-159119220) copy number gain not provided [RCV000767558] Chr7:128312450..159119220 [GRCh37]
Chr7:7q32.1-36.3		 pathogenic
NM_001142459.2(ASB10):c.798C>T (p.Ala266=) single nucleotide variant not provided [RCV000836746] Chr7:151181245 [GRCh38]
Chr7:150878332 [GRCh37]
Chr7:7q36.1		 benign
NM_001142459.2(ASB10):c.1114C>T (p.Arg372Cys) single nucleotide variant not provided [RCV000836647] Chr7:151176667 [GRCh38]
Chr7:150873754 [GRCh37]
Chr7:7q36.1		 benign
GRCh37/hg19 7q32.3-36.3(chr7:131414604-159126310)x1 copy number loss See cases [RCV001007432] Chr7:131414604..159126310 [GRCh37]
Chr7:7q32.3-36.3		 pathogenic
GRCh37/hg19 7q36.1(chr7:149968222-152539376)x3 copy number gain not provided [RCV000847582] Chr7:149968222..152539376 [GRCh37]
Chr7:7q36.1		 uncertain significance
GRCh37/hg19 7q32.3-36.3(chr7:130592554-159119707)x3 copy number gain not provided [RCV000849569] Chr7:130592554..159119707 [GRCh37]
Chr7:7q32.3-36.3		 pathogenic
NM_001142459.2(ASB10):c.460G>A (p.Glu154Lys) single nucleotide variant not specified [RCV004286750] Chr7:151186516 [GRCh38]
Chr7:150883603 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_001142459.2(ASB10):c.585-300A>C single nucleotide variant not provided [RCV001674025] Chr7:151181758 [GRCh38]
Chr7:150878845 [GRCh37]
Chr7:7q36.1		 benign
NM_001142459.2(ASB10):c.1386T>G (p.Phe462Leu) single nucleotide variant not provided [RCV001723324] Chr7:151176130 [GRCh38]
Chr7:150873217 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_001142459.2(ASB10):c.317-75C>T single nucleotide variant not provided [RCV001650017] Chr7:151186734 [GRCh38]
Chr7:150883821 [GRCh37]
Chr7:7q36.1		 benign
NM_001142459.2(ASB10):c.1357C>T (p.Arg453Cys) single nucleotide variant not provided [RCV001617314] Chr7:151176159 [GRCh38]
Chr7:150873246 [GRCh37]
Chr7:7q36.1		 benign
NM_001142459.2(ASB10):c.886C>T (p.Arg296Ter) single nucleotide variant not provided [RCV000896643] Chr7:151181157 [GRCh38]
Chr7:150878244 [GRCh37]
Chr7:7q36.1		 likely benign
NM_001142459.2(ASB10):c.585-4A>G single nucleotide variant not provided [RCV001720986] Chr7:151181462 [GRCh38]
Chr7:150878549 [GRCh37]
Chr7:7q36.1		 benign
NC_000007.14:g.151187857T>A single nucleotide variant not provided [RCV001637436] Chr7:151187857 [GRCh38]
Chr7:150884944 [GRCh37]
Chr7:7q36.1		 benign
NM_001142459.2(ASB10):c.316+10G>A single nucleotide variant ASB10-related condition [RCV003975819]|not provided [RCV001657528] Chr7:151186805 [GRCh38]
Chr7:150883892 [GRCh37]
Chr7:7q36.1		 benign
NM_001142459.2(ASB10):c.1204C>A (p.Pro402Thr) single nucleotide variant not provided [RCV001621531] Chr7:151176577 [GRCh38]
Chr7:150873664 [GRCh37]
Chr7:7q36.1		 benign
GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3 copy number gain Neurodevelopmental disorder [RCV003327610] Chr7:138620939..159233475 [GRCh38]
Chr7:7q34-36.3		 likely pathogenic
NM_001142459.2(ASB10):c.1104+252T>C single nucleotide variant not provided [RCV001675021] Chr7:151180687 [GRCh38]
Chr7:150877774 [GRCh37]
Chr7:7q36.1		 benign
GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3 copy number gain not provided [RCV001005994] Chr7:109251060..159119707 [GRCh37]
Chr7:7q31.1-36.3		 pathogenic
NM_001142459.2(ASB10):c.585-315G>A single nucleotide variant not provided [RCV001677994] Chr7:151181773 [GRCh38]
Chr7:150878860 [GRCh37]
Chr7:7q36.1		 benign
NM_001142459.2(ASB10):c.584+258T>C single nucleotide variant not provided [RCV001677007] Chr7:151186134 [GRCh38]
Chr7:150883221 [GRCh37]
Chr7:7q36.1		 benign
NM_001142459.2(ASB10):c.584+253C>T single nucleotide variant not provided [RCV001613826] Chr7:151186139 [GRCh38]
Chr7:150883226 [GRCh37]
Chr7:7q36.1		 benign
NM_001142459.2(ASB10):c.1075G>A (p.Val359Ile) single nucleotide variant not provided [RCV001614096] Chr7:151180968 [GRCh38]
Chr7:150878055 [GRCh37]
Chr7:7q36.1		 benign
NM_001142459.2(ASB10):c.1104+220A>G single nucleotide variant not provided [RCV001724427] Chr7:151180719 [GRCh38]
Chr7:150877806 [GRCh37]
Chr7:7q36.1		 benign
NM_001142459.2(ASB10):c.585-258C>T single nucleotide variant not provided [RCV001537096] Chr7:151181716 [GRCh38]
Chr7:150878803 [GRCh37]
Chr7:7q36.1		 benign
NC_000007.13:g.(?_150642443)_(151385353_?)dup duplication Long QT syndrome [RCV001031214] Chr7:150642443..151385353 [GRCh37]
Chr7:7q36.1		 uncertain significance
GRCh37/hg19 7q35-36.3(chr7:145962558-159119707)x1 copy number loss not provided [RCV001006022] Chr7:145962558..159119707 [GRCh37]
Chr7:7q35-36.3		 pathogenic
NC_000007.13:g.(?_150642453)_(152373165_?)dup duplication Long QT syndrome [RCV001327691] Chr7:150642453..152373165 [GRCh37]
Chr7:7q36.1		 uncertain significance
NC_000007.13:g.(?_150642443)_(151385353_?)del deletion Long QT syndrome [RCV001380536] Chr7:150642443..151385353 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_001142459.2(ASB10):c.317-15G>A single nucleotide variant not provided [RCV001534625] Chr7:151186674 [GRCh38]
Chr7:150883761 [GRCh37]
Chr7:7q36.1		 benign
NM_001142459.2(ASB10):c.585-157del deletion not provided [RCV001684900] Chr7:151181615 [GRCh38]
Chr7:150878702 [GRCh37]
Chr7:7q36.1		 benign
NM_001142459.2(ASB10):c.450C>T (p.Thr150=) single nucleotide variant ASB10-related condition [RCV003956366]|not provided [RCV001769787] Chr7:151186526 [GRCh38]
Chr7:150883613 [GRCh37]
Chr7:7q36.1		 benign|likely benign
NM_001142459.2(ASB10):c.585-158_585-157del deletion not provided [RCV001776567] Chr7:151181615..151181616 [GRCh38]
Chr7:150878702..150878703 [GRCh37]
Chr7:7q36.1		 likely benign
NM_001142459.2(ASB10):c.1218+84G>A single nucleotide variant not provided [RCV001768067] Chr7:151176479 [GRCh38]
Chr7:150873566 [GRCh37]
Chr7:7q36.1		 likely benign
NM_001142459.2(ASB10):c.1036C>T (p.Pro346Ser) single nucleotide variant not provided [RCV001874199]|not specified [RCV004039754] Chr7:151181007 [GRCh38]
Chr7:150878094 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_001142459.2(ASB10):c.872A>G (p.Asp291Gly) single nucleotide variant not provided [RCV001988087] Chr7:151181171 [GRCh38]
Chr7:150878258 [GRCh37]
Chr7:7q36.1		 uncertain significance
GRCh37/hg19 7q36.1-36.3(chr7:148153261-157543640)x3 copy number gain not provided [RCV001827941] Chr7:148153261..157543640 [GRCh37]
Chr7:7q36.1-36.3		 pathogenic
GRCh37/hg19 7q36.1-36.3(chr7:148695373-159119707)x1 copy number loss not provided [RCV001832910] Chr7:148695373..159119707 [GRCh37]
Chr7:7q36.1-36.3		 pathogenic
NC_000007.13:g.(?_150642453)_(151573705_?)dup duplication Lethal congenital glycogen storage disease of heart [RCV001978713] Chr7:150642453..151573705 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_001142459.2(ASB10):c.1246T>C (p.Phe416Leu) single nucleotide variant not provided [RCV001878345] Chr7:151176270 [GRCh38]
Chr7:150873357 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_001142459.2(ASB10):c.327T>C (p.Ser109=) single nucleotide variant not provided [RCV002210055] Chr7:151186649 [GRCh38]
Chr7:150883736 [GRCh37]
Chr7:7q36.1		 likely benign
NM_001142459.2(ASB10):c.321C>G (p.Leu107=) single nucleotide variant not provided [RCV002159674] Chr7:151186655 [GRCh38]
Chr7:150883742 [GRCh37]
Chr7:7q36.1		 benign
NM_001142459.2(ASB10):c.129G>A (p.Pro43=) single nucleotide variant ASB10-related condition [RCV003968774]|not provided [RCV002200161] Chr7:151187002 [GRCh38]
Chr7:150884089 [GRCh37]
Chr7:7q36.1		 benign|likely benign
NM_001142459.2(ASB10):c.1306C>A (p.His436Asn) single nucleotide variant not provided [RCV002176411]|not specified [RCV004047086] Chr7:151176210 [GRCh38]
Chr7:150873297 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_001142459.2(ASB10):c.27G>T (p.Glu9Asp) single nucleotide variant not provided [RCV002101733] Chr7:151187104 [GRCh38]
Chr7:150884191 [GRCh37]
Chr7:7q36.1		 likely benign
NC_000007.13:g.(?_150307047)_(152613597_?)del deletion not provided [RCV003113787] Chr7:150307047..152613597 [GRCh37]
Chr7:7q36.1-36.2		 pathogenic
NC_000007.13:g.(?_150324807)_(152373164_?)dup duplication not provided [RCV003113607] Chr7:150324807..152373164 [GRCh37]
Chr7:7q36.1		 uncertain significance
NC_000007.13:g.(?_150642453)_(151573705_?)del deletion Lethal congenital glycogen storage disease of heart [RCV003119718] Chr7:150642453..151573705 [GRCh37]
Chr7:7q36.1		 uncertain significance
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q35-36.3(chr7:146927174-159128556)x3 copy number gain not provided [RCV002279740] Chr7:146927174..159128556 [GRCh37]
Chr7:7q35-36.3		 pathogenic
NM_001142459.2(ASB10):c.856G>A (p.Asp286Asn) single nucleotide variant not specified [RCV004310481] Chr7:151181187 [GRCh38]
Chr7:150878274 [GRCh37]
Chr7:7q36.1		 uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1 copy number loss See cases [RCV002287832] Chr7:56604613..96692931 [GRCh37]
Chr7:7p22.3-q36.3		 uncertain significance
GRCh37/hg19 7q36.1(chr7:149332630-151498689)x1 copy number loss not provided [RCV002472413] Chr7:149332630..151498689 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_001142459.2(ASB10):c.1091G>T (p.Gly364Val) single nucleotide variant not specified [RCV004245635] Chr7:151180952 [GRCh38]
Chr7:150878039 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_001142459.2(ASB10):c.514G>A (p.Ala172Thr) single nucleotide variant not specified [RCV004210395] Chr7:151186462 [GRCh38]
Chr7:150883549 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_001142459.2(ASB10):c.1072G>A (p.Ala358Thr) single nucleotide variant not specified [RCV004216200] Chr7:151180971 [GRCh38]
Chr7:150878058 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_001142459.2(ASB10):c.307C>T (p.Arg103Cys) single nucleotide variant not specified [RCV004086829] Chr7:151186824 [GRCh38]
Chr7:150883911 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_001142459.2(ASB10):c.1168G>A (p.Val390Met) single nucleotide variant not specified [RCV004192960] Chr7:151176613 [GRCh38]
Chr7:150873700 [GRCh37]
Chr7:7q36.1		 likely benign
NM_001142459.2(ASB10):c.928G>A (p.Val310Met) single nucleotide variant not specified [RCV004211432] Chr7:151181115 [GRCh38]
Chr7:150878202 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_001142459.2(ASB10):c.512G>A (p.Gly171Glu) single nucleotide variant not specified [RCV004152661] Chr7:151186464 [GRCh38]
Chr7:150883551 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_001142459.2(ASB10):c.907C>T (p.Arg303Cys) single nucleotide variant not specified [RCV004102640] Chr7:151181136 [GRCh38]
Chr7:150878223 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_001142459.2(ASB10):c.1319G>T (p.Ser440Ile) single nucleotide variant not provided [RCV002667308] Chr7:151176197 [GRCh38]
Chr7:150873284 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_001142459.2(ASB10):c.478C>T (p.His160Tyr) single nucleotide variant not specified [RCV004121706] Chr7:151186498 [GRCh38]
Chr7:150883585 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_001142459.2(ASB10):c.1300C>T (p.Arg434Cys) single nucleotide variant not provided [RCV002623891]|not specified [RCV004070660] Chr7:151176216 [GRCh38]
Chr7:150873303 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_001142459.2(ASB10):c.738C>T (p.Ala246=) single nucleotide variant not provided [RCV003082556] Chr7:151181305 [GRCh38]
Chr7:150878392 [GRCh37]
Chr7:7q36.1		 benign
NM_001142459.2(ASB10):c.131G>A (p.Gly44Glu) single nucleotide variant not specified [RCV004152638] Chr7:151187000 [GRCh38]
Chr7:150884087 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_001142459.2(ASB10):c.350C>A (p.Thr117Asn) single nucleotide variant not specified [RCV004167919] Chr7:151186626 [GRCh38]
Chr7:150883713 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_001142459.2(ASB10):c.1138A>T (p.Ile380Phe) single nucleotide variant not specified [RCV004140137] Chr7:151176643 [GRCh38]
Chr7:150873730 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_001142459.2(ASB10):c.316+7G>A single nucleotide variant not provided [RCV002899643] Chr7:151186808 [GRCh38]
Chr7:150883895 [GRCh37]
Chr7:7q36.1		 benign
NM_001142459.2(ASB10):c.412C>T (p.Arg138Trp) single nucleotide variant not specified [RCV004172015] Chr7:151186564 [GRCh38]
Chr7:150883651 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_001142459.2(ASB10):c.256G>A (p.Val86Ile) single nucleotide variant not provided [RCV002628748] Chr7:151186875 [GRCh38]
Chr7:150883962 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_001142459.2(ASB10):c.1265C>G (p.Pro422Arg) single nucleotide variant not provided [RCV002583769]|not specified [RCV004064498] Chr7:151176251 [GRCh38]
Chr7:150873338 [GRCh37]
Chr7:7q36.1		 uncertain significance
GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3 copy number gain Neurodevelopmental disorder [RCV003327609] Chr7:137463392..159345973 [GRCh38]
Chr7:7q33-36.3		 pathogenic
NM_001142459.2(ASB10):c.11G>C (p.Ser4Thr) single nucleotide variant not specified [RCV004275427] Chr7:151187120 [GRCh38]
Chr7:150884207 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_001142459.2(ASB10):c.1008G>C (p.Gln336His) single nucleotide variant not specified [RCV004324840] Chr7:151181035 [GRCh38]
Chr7:150878122 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_001142459.2(ASB10):c.911G>A (p.Arg304His) single nucleotide variant not specified [RCV004335959] Chr7:151181132 [GRCh38]
Chr7:150878219 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_001142459.2(ASB10):c.1265C>A (p.Pro422His) single nucleotide variant not specified [RCV004352495] Chr7:151176251 [GRCh38]
Chr7:150873338 [GRCh37]
Chr7:7q36.1		 uncertain significance
GRCh37/hg19 7q34-36.3(chr7:142099013-159119707)x1 copy number loss not provided [RCV003482989] Chr7:142099013..159119707 [GRCh37]
Chr7:7q34-36.3		 pathogenic
NM_001142459.2(ASB10):c.451G>A (p.Ala151Thr) single nucleotide variant not provided [RCV003874445] Chr7:151186525 [GRCh38]
Chr7:150883612 [GRCh37]
Chr7:7q36.1		 uncertain significance
GRCh37/hg19 7q36.1(chr7:148538593-150967829)x1 copy number loss not provided [RCV003482992] Chr7:148538593..150967829 [GRCh37]
Chr7:7q36.1		 pathogenic
GRCh37/hg19 7q33-36.3(chr7:135639005-159119707)x1 copy number loss not provided [RCV003482988] Chr7:135639005..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
NM_001142459.2(ASB10):c.1155C>T (p.Asn385=) single nucleotide variant not provided [RCV003572026] Chr7:151176626 [GRCh38]
Chr7:150873713 [GRCh37]
Chr7:7q36.1		 likely benign
NM_001142459.2(ASB10):c.1165_1166del (p.Val389fs) microsatellite not provided [RCV003879970] Chr7:151176615..151176616 [GRCh38]
Chr7:150873702..150873703 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_001142459.2(ASB10):c.570del (p.Pro191fs) deletion not provided [RCV003724326] Chr7:151186406 [GRCh38]
Chr7:150883493 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_001142459.2(ASB10):c.571C>A (p.Pro191Thr) single nucleotide variant not provided [RCV003724689] Chr7:151186405 [GRCh38]
Chr7:150883492 [GRCh37]
Chr7:7q36.1		 likely benign
GRCh37/hg19 7q33-36.3(chr7:137456457-159119707)x3 copy number gain not specified [RCV003986713] Chr7:137456457..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
NM_080871.4(ASB10):c.250C>T (p.Arg84Cys) single nucleotide variant ASB10-related condition [RCV003961589] Chr7:151187473 [GRCh38]
Chr7:150884560 [GRCh37]
Chr7:7q36.1		 likely benign
NM_001142459.2(ASB10):c.529G>A (p.Ala177Thr) single nucleotide variant not specified [RCV004420498] Chr7:151186447 [GRCh38]
Chr7:150883534 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_001142459.2(ASB10):c.826C>A (p.Leu276Met) single nucleotide variant not specified [RCV004420501] Chr7:151181217 [GRCh38]
Chr7:150878304 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_001142459.2(ASB10):c.546A>T (p.Lys182Asn) single nucleotide variant not specified [RCV004420499] Chr7:151186430 [GRCh38]
Chr7:150883517 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_001142459.2(ASB10):c.927C>T (p.Val309=) single nucleotide variant ASB10-related condition [RCV003981662] Chr7:151181116 [GRCh38]
Chr7:150878203 [GRCh37]
Chr7:7q36.1		 likely benign
NM_001142459.2(ASB10):c.1197G>T (p.Leu399=) single nucleotide variant ASB10-related condition [RCV003931385] Chr7:151176584 [GRCh38]
Chr7:150873671 [GRCh37]
Chr7:7q36.1		 likely benign
NM_001142459.2(ASB10):c.515C>G (p.Ala172Gly) single nucleotide variant not specified [RCV004420496] Chr7:151186461 [GRCh38]
Chr7:150883548 [GRCh37]
Chr7:7q36.1		 uncertain significance
GRCh37/hg19 7q34-36.3(chr7:141690279-159119707)x3 copy number gain See cases [RCV004442845] Chr7:141690279..159119707 [GRCh37]
Chr7:7q34-36.3		 pathogenic
NM_001142459.2(ASB10):c.15G>T (p.Trp5Cys) single nucleotide variant not specified [RCV004420494] Chr7:151187116 [GRCh38]
Chr7:150884203 [GRCh37]
Chr7:7q36.1		 uncertain significance
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7q35-36.2(chr7:147345844-153833351)x3 copy number gain See cases [RCV000135825] Chr7:147345844..153833351 [GRCh38]
Chr7:147042936..153530436 [GRCh37]
Chr7:146673869..153161369 [NCBI36]
Chr7:7q35-36.2		 pathogenic
GRCh38/hg38 7q35-36.3(chr7:145436544-159331441)x1 copy number loss See cases [RCV000137338] Chr7:145436544..159331441 [GRCh38]
Chr7:145133637..159124131 [GRCh37]
Chr7:144764570..158816892 [NCBI36]
Chr7:7q35-36.3		 pathogenic|likely pathogenic
GRCh38/hg38 7q35-36.3(chr7:145250254-159335866)x1 copy number loss See cases [RCV000138005] Chr7:145250254..159335866 [GRCh38]
Chr7:144947347..159128556 [GRCh37]
Chr7:144578280..158821317 [NCBI36]
Chr7:7q35-36.3		 pathogenic
GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1 copy number loss See cases [RCV000138120] Chr7:134666829..158591882 [GRCh38]
Chr7:134351581..158384574 [GRCh37]
Chr7:134002121..158077335 [NCBI36]
Chr7:7q33-36.3		 pathogenic
GRCh38/hg38 7q35-36.3(chr7:147144002-159327017)x1 copy number loss See cases [RCV000143503] Chr7:147144002..159327017 [GRCh38]
Chr7:146841094..159119707 [GRCh37]
Chr7:146472027..158812468 [NCBI36]
Chr7:7q35-36.3		 pathogenic
GRCh37/hg19 7q33-36.3(chr7:137589621-159119707)x3 copy number gain See cases [RCV000449264] Chr7:137589621..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
GRCh37/hg19 7q35-36.3(chr7:143839360-159138663) copy number loss Abnormal esophagus morphology [RCV000416719] Chr7:143839360..159138663 [GRCh37]
Chr7:7q35-36.3		 pathogenic
GRCh37/hg19 7q36.1-36.3(chr7:149261179-159075020)x3 copy number gain See cases [RCV000447776] Chr7:149261179..159075020 [GRCh37]
Chr7:7q36.1-36.3		 pathogenic
GRCh37/hg19 7q36.1-36.3(chr7:150553743-159119707)x3 copy number gain See cases [RCV000510762] Chr7:150553743..159119707 [GRCh37]
Chr7:7q36.1-36.3		 likely pathogenic
GRCh37/hg19 7q34-36.3(chr7:139623170-158329903)x3 copy number gain not provided [RCV000747070] Chr7:139623170..158329903 [GRCh37]
Chr7:7q34-36.3		 pathogenic
GRCh37/hg19 7q35-36.1(chr7:143711059-152573935)x3 copy number gain not provided [RCV000747094] Chr7:143711059..152573935 [GRCh37]
Chr7:7q35-36.1		 benign
GRCh37/hg19 7q35-36.3(chr7:143107740-156886246)x3 copy number gain not provided [RCV001249383] Chr7:143107740..156886246 [GRCh37]
Chr7:7q35-36.3		 not provided
NM_001142459.2(ASB10):c.*8T>C single nucleotide variant not provided [RCV001597763] Chr7:151175959 [GRCh38]
Chr7:150873046 [GRCh37]
Chr7:7q36.1		 benign
NM_001142459.2(ASB10):c.1218+26G>C single nucleotide variant not provided [RCV001768122] Chr7:151176537 [GRCh38]
Chr7:150873624 [GRCh37]
Chr7:7q36.1		 likely benign
GRCh37/hg19 7q36.1(chr7:150745923-152373214)x1 copy number loss Kleefstra syndrome 2 [RCV001801228] Chr7:150745923..152373214 [GRCh37]
Chr7:7q36.1		 pathogenic
GRCh37/hg19 7q33-36.3(chr7:133851002-159119707)x3 copy number gain not provided [RCV001834520] Chr7:133851002..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
NC_000007.13:g.(?_150324807)_(152373164_?)del deletion not provided [RCV003113606] Chr7:150324807..152373164 [GRCh37]
Chr7:7q36.1		 pathogenic
GRCh37/hg19 7q36.1-36.3(chr7:149062717-159124131)x1 copy number loss not provided [RCV002279756] Chr7:149062717..159124131 [GRCh37]
Chr7:7q36.1-36.3		 pathogenic
NM_001142459.2(ASB10):c.398G>A (p.Arg133Gln) single nucleotide variant not provided [RCV003099093] Chr7:151186578 [GRCh38]
Chr7:150883665 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_001142459.2(ASB10):c.91C>A (p.Pro31Thr) single nucleotide variant not provided [RCV002800723]|not specified [RCV004064810] Chr7:151187040 [GRCh38]
Chr7:150884127 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_080871.4(ASB10):c.236G>A (p.Arg79Gln) single nucleotide variant not provided [RCV002922406] Chr7:151187487 [GRCh38]
Chr7:150884574 [GRCh37]
Chr7:7q36.1		 likely benign
NM_001142459.2(ASB10):c.859G>A (p.Ala287Thr) single nucleotide variant not specified [RCV004179496] Chr7:151181184 [GRCh38]
Chr7:150878271 [GRCh37]
Chr7:7q36.1		 uncertain significance
GRCh37/hg19 7q34-36.1(chr7:140154317-152551638)x1 copy number loss not provided [RCV003334300] Chr7:140154317..152551638 [GRCh37]
Chr7:7q34-36.1		 pathogenic
GRCh37/hg19 7q35-36.3(chr7:144940098-159119707)x1 copy number loss not provided [RCV003482991] Chr7:144940098..159119707 [GRCh37]
Chr7:7q35-36.3		 pathogenic
NM_001142459.2(ASB10):c.1029C>T (p.Ala343=) single nucleotide variant not provided [RCV003817085] Chr7:151181014 [GRCh38]
Chr7:150878101 [GRCh37]
Chr7:7q36.1		 likely benign
GRCh37/hg19 7q36.1(chr7:148896264-150963866)x1 copy number loss not specified [RCV003986691] Chr7:148896264..150963866 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_001142459.2(ASB10):c.1140C>G (p.Ile380Met) single nucleotide variant not specified [RCV004420490] Chr7:151176641 [GRCh38]
Chr7:150873728 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_001142459.2(ASB10):c.1189G>A (p.Val397Ile) single nucleotide variant not specified [RCV004420491] Chr7:151176592 [GRCh38]
Chr7:150873679 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_001142459.2(ASB10):c.1352C>T (p.Pro451Leu) single nucleotide variant not specified [RCV004420493] Chr7:151176164 [GRCh38]
Chr7:150873251 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_001142459.2(ASB10):c.239G>T (p.Gly80Val) single nucleotide variant not specified [RCV004420495] Chr7:151186892 [GRCh38]
Chr7:150883979 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_001142459.2(ASB10):c.517G>A (p.Asp173Asn) single nucleotide variant not specified [RCV004420497] Chr7:151186459 [GRCh38]
Chr7:150883546 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_001142459.2(ASB10):c.574G>A (p.Gly192Ser) single nucleotide variant not specified [RCV004420500] Chr7:151186402 [GRCh38]
Chr7:150883489 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_001142459.2(ASB10):c.869C>T (p.Ala290Val) single nucleotide variant not specified [RCV004420502] Chr7:151181174 [GRCh38]
Chr7:150878261 [GRCh37]
Chr7:7q36.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2197
Count of miRNA genes:560
Interacting mature miRNAs:620
Transcripts:ENST00000275838, ENST00000377867, ENST00000415615, ENST00000420175, ENST00000422024, ENST00000434669
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 318 3 765 1015 3 765
Low 17 727 14 32 21 87 238 18 1 96 17 34 17 78 1
Below cutoff 1442 940 697 177 432 85 1903 709 1684 114 815 629 92 786 1211

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000275838   ⟹   ENSP00000275838
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7151,175,698 - 151,187,391 (-)Ensembl
RefSeq Acc Id: ENST00000377867   ⟹   ENSP00000367098
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7151,175,698 - 151,187,832 (-)Ensembl
RefSeq Acc Id: ENST00000415615   ⟹   ENSP00000410871
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7151,186,645 - 151,187,778 (-)Ensembl
RefSeq Acc Id: ENST00000420175   ⟹   ENSP00000391137
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7151,175,698 - 151,187,250 (-)Ensembl
RefSeq Acc Id: NM_001142459   ⟹   NP_001135931
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387151,175,698 - 151,187,250 (-)NCBI
GRCh377150,872,785 - 150,884,919 (-)RGD
Celera7145,430,126 - 145,442,260 (-)RGD
HuRef7144,683,659 - 144,695,741 (-)ENTREZGENE
CHM1_17150,881,185 - 150,892,877 (-)NCBI
T2T-CHM13v2.07152,348,791 - 152,360,342 (-)NCBI
CRA_TCAGchr7v27150,202,306 - 150,214,439 (-)RGD
Sequence:
RefSeq Acc Id: NM_001142460   ⟹   NP_001135932
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387151,175,698 - 151,187,391 (-)NCBI
GRCh377150,872,785 - 150,884,919 (-)RGD
Celera7145,430,126 - 145,442,260 (-)RGD
HuRef7144,683,659 - 144,695,741 (-)ENTREZGENE
CHM1_17150,881,185 - 150,892,877 (-)NCBI
T2T-CHM13v2.07152,348,791 - 152,360,483 (-)NCBI
CRA_TCAGchr7v27150,202,306 - 150,214,439 (-)RGD
Sequence:
RefSeq Acc Id: NM_080871   ⟹   NP_543147
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387151,175,698 - 151,187,792 (-)NCBI
GRCh377150,872,785 - 150,884,919 (-)NCBI
Build 367150,503,718 - 150,515,411 (-)NCBI Archive
Celera7145,430,126 - 145,442,260 (-)RGD
HuRef7144,683,659 - 144,695,741 (-)ENTREZGENE
CHM1_17150,881,185 - 150,893,318 (-)NCBI
T2T-CHM13v2.07152,348,791 - 152,360,884 (-)NCBI
CRA_TCAGchr7v27150,202,306 - 150,214,439 (-)RGD
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_543147   ⟸   NM_080871
- Peptide Label: isoform 3
- UniProtKB: Q8WXI3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001135932   ⟸   NM_001142460
- Peptide Label: isoform 2
- UniProtKB: A0A090N8I2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001135931   ⟸   NM_001142459
- Peptide Label: isoform 1
- UniProtKB: A0AVH0 (UniProtKB/Swiss-Prot),   Q6ZUL6 (UniProtKB/Swiss-Prot),   Q8WXI3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000410871   ⟸   ENST00000415615
RefSeq Acc Id: ENSP00000367098   ⟸   ENST00000377867
RefSeq Acc Id: ENSP00000275838   ⟸   ENST00000275838
RefSeq Acc Id: ENSP00000391137   ⟸   ENST00000420175
Protein Domains
SOCS box

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8WXI3-F1-model_v2 AlphaFold Q8WXI3 1-467 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:17185 AgrOrtholog
COSMIC ASB10 COSMIC
Ensembl Genes ENSG00000146926 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000275838 ENTREZGENE
  ENST00000275838.5 UniProtKB/Swiss-Prot
  ENST00000377867 ENTREZGENE
  ENST00000377867.7 UniProtKB/Swiss-Prot
  ENST00000415615.1 UniProtKB/TrEMBL
  ENST00000420175 ENTREZGENE
  ENST00000420175.3 UniProtKB/Swiss-Prot
Gene3D-CATH 1.25.40.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SOCS box UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000146926 GTEx
HGNC ID HGNC:17185 ENTREZGENE
Human Proteome Map ASB10 Human Proteome Map
InterPro Ankyrin_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ankyrin_rpt-contain_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SOCS_box UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SOCS_box-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:136371 UniProtKB/Swiss-Prot
NCBI Gene 136371 ENTREZGENE
OMIM 615054 OMIM
PANTHER ANKYRIN REPEAT FAMILY PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DIEGO, ISOFORM A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Ank UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ank_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SOCS_box UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA25028 PharmGKB
PRINTS ANKYRIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ANK_REP_REGION UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ANK_REPEAT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SOCS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART ANK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SOCS_box UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF158235 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF48403 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A090N8I2 ENTREZGENE, UniProtKB/TrEMBL
  A0AVH0 ENTREZGENE
  ASB10_HUMAN UniProtKB/Swiss-Prot
  F8WB38_HUMAN UniProtKB/TrEMBL
  Q6ZUL6 ENTREZGENE
  Q8WXI3 ENTREZGENE
UniProt Secondary A0AVH0 UniProtKB/Swiss-Prot
  Q6ZUL6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-24 ASB10  ankyrin repeat and SOCS box containing 10  GLC1F  glaucoma 1, open angle, F (adult-onset)  Data merged from RGD:1347214 737654 PROVISIONAL
2011-07-27 ASB10  ankyrin repeat and SOCS box containing 10  ASB10  ankyrin repeat and SOCS box-containing 10  Symbol and/or name change 5135510 APPROVED