VWA3A (von Willebrand factor A domain containing 3A) - Rat Genome Database

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Gene: VWA3A (von Willebrand factor A domain containing 3A) Homo sapiens
Analyze
Symbol: VWA3A
Name: von Willebrand factor A domain containing 3A
RGD ID: 1641961
HGNC Page HGNC:27088
Description: Predicted to be located in extracellular region.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: FLJ40941; FLJ46765; von Willebrand factor A domain-containing protein 3A
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
GRCh381622,092,541 - 22,156,964 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1622,092,538 - 22,156,964 (+)EnsemblGRCh38hg38GRCh38
GRCh371622,103,862 - 22,168,285 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361622,011,363 - 22,075,788 (+)NCBINCBI36Build 36hg18NCBI36
Celera1620,883,746 - 20,948,192 (+)NCBICelera
Cytogenetic Map16p12.2NCBI
HuRef1620,348,542 - 20,413,025 (+)NCBIHuRef
CHM1_11622,223,039 - 22,287,463 (-)NCBICHM1_1
T2T-CHM13v2.01622,060,249 - 22,125,572 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Autism  (IAGP)
Schizophrenia  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:11181995   PMID:12477932   PMID:14702039   PMID:16344560   PMID:29987050   PMID:30021884   PMID:32106291   PMID:35256949  


Genomics

Comparative Map Data
VWA3A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381622,092,541 - 22,156,964 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1622,092,538 - 22,156,964 (+)EnsemblGRCh38hg38GRCh38
GRCh371622,103,862 - 22,168,285 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361622,011,363 - 22,075,788 (+)NCBINCBI36Build 36hg18NCBI36
Celera1620,883,746 - 20,948,192 (+)NCBICelera
Cytogenetic Map16p12.2NCBI
HuRef1620,348,542 - 20,413,025 (+)NCBIHuRef
CHM1_11622,223,039 - 22,287,463 (-)NCBICHM1_1
T2T-CHM13v2.01622,060,249 - 22,125,572 (-)NCBIT2T-CHM13v2.0
Vwa3a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm397120,336,554 - 120,404,769 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl7120,338,541 - 120,404,965 (+)EnsemblGRCm39 Ensembl
GRCm387120,737,331 - 120,805,546 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl7120,739,318 - 120,805,742 (+)EnsemblGRCm38mm10GRCm38
MGSCv377127,883,071 - 127,949,055 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv367120,531,196 - 120,596,891 (+)NCBIMGSCv36mm8
Celera7120,646,862 - 120,713,473 (+)NCBICelera
Cytogenetic Map7F2NCBI
cM Map764.9NCBI
Vwa3a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81184,725,106 - 184,786,884 (+)NCBIGRCr8
mRatBN7.21175,293,782 - 175,355,588 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1175,293,873 - 175,355,602 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1183,635,615 - 183,697,477 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01190,821,593 - 190,883,457 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01183,506,845 - 183,569,030 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01190,679,722 - 190,742,444 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1190,681,094 - 190,742,444 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01197,606,342 - 197,667,768 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41179,585,656 - 179,634,495 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11179,724,902 - 179,782,786 (+)NCBI
Celera1173,027,841 - 173,088,348 (+)NCBICelera
Cytogenetic Map1q36NCBI
Vwa3a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955493781,031 - 829,957 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955493780,808 - 829,768 (+)NCBIChiLan1.0ChiLan1.0
VWA3A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21822,936,316 - 23,001,619 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11627,456,711 - 27,522,802 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01616,575,765 - 16,640,697 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11622,403,709 - 22,468,186 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1622,403,518 - 22,468,186 (+)Ensemblpanpan1.1panPan2
VWA3A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1623,473,609 - 23,533,434 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl623,473,810 - 23,532,776 (-)EnsemblCanFam3.1canFam3CanFam3.1
ROS_Cfam_1.0623,612,750 - 23,672,555 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl623,612,471 - 23,671,881 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1623,414,497 - 23,474,292 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0623,320,639 - 23,380,787 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0623,705,576 - 23,765,666 (-)NCBIUU_Cfam_GSD_1.0
Vwa3a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344118,959,602 - 119,008,094 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365017,058,029 - 7,104,963 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365017,062,421 - 7,105,926 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
VWA3A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl324,031,331 - 24,097,393 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1324,028,836 - 24,097,582 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2324,547,587 - 24,632,347 (+)NCBISscrofa10.2Sscrofa10.2susScr3
VWA3A
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1519,758,691 - 19,825,373 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl519,765,290 - 19,824,918 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366606810,049,494 - 10,113,549 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Vwa3a
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247827,522,234 - 7,575,087 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247827,520,666 - 7,573,675 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in VWA3A
47 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 16p12.2(chr16:21825971-22396751)x1 copy number loss See cases [RCV000050457] Chr16:21825971..22396751 [GRCh38]
Chr16:21837292..22408072 [GRCh37]
Chr16:21744793..22315573 [NCBI36]
Chr16:16p12.2		 benign|uncertain significance|conflicting data from submitters
GRCh38/hg38 16p12.2(chr16:21826171-22358401)x3 copy number gain Global developmental delay [RCV000050396]|See cases [RCV000050396] Chr16:21826171..22358401 [GRCh38]
Chr16:21837492..22369722 [GRCh37]
Chr16:16p12.2		 uncertain significance
GRCh38/hg38 16p12.2(chr16:21826171-22396610)x3 copy number gain See cases [RCV000050397] Chr16:21826171..22396610 [GRCh38]
Chr16:21837492..22407931 [GRCh37]
Chr16:21744993..22315432 [NCBI36]
Chr16:16p12.2		 uncertain significance
GRCh38/hg38 16p12.2(chr16:21826171-22396610)x1 copy number loss See cases [RCV000050398] Chr16:21826171..22396610 [GRCh38]
Chr16:21837492..22407931 [GRCh37]
Chr16:21744993..22315432 [NCBI36]
Chr16:16p12.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
GRCh38/hg38 16p12.2(chr16:21642883-22396751)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051266]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051266]|See cases [RCV000051266] Chr16:21642883..22396751 [GRCh38]
Chr16:21654204..22408072 [GRCh37]
Chr16:21561705..22315573 [NCBI36]
Chr16:16p12.2		 uncertain significance
GRCh38/hg38 16p12.2(chr16:21794978-22396610)x1 copy number loss See cases [RCV000051267] Chr16:21794978..22396610 [GRCh38]
Chr16:21806299..22407931 [GRCh37]
Chr16:21713800..22315432 [NCBI36]
Chr16:16p12.2		 uncertain significance
GRCh38/hg38 16p12.2(chr16:21826171-22634444)x1 copy number loss See cases [RCV000051268] Chr16:21826171..22634444 [GRCh38]
Chr16:21837492..22645765 [GRCh37]
Chr16:21744993..22553266 [NCBI36]
Chr16:16p12.2		 uncertain significance
GRCh38/hg38 16p12.2(chr16:21940058-22396610)x1 copy number loss See cases [RCV000051269] Chr16:21940058..22396610 [GRCh38]
Chr16:21951379..22407931 [GRCh37]
Chr16:21858880..22315432 [NCBI36]
Chr16:16p12.2		 uncertain significance
GRCh38/hg38 16p12.2(chr16:21973700-22396610)x1 copy number loss See cases [RCV000051287] Chr16:21973700..22396610 [GRCh38]
Chr16:21985021..22407931 [GRCh37]
Chr16:21892522..22315432 [NCBI36]
Chr16:16p12.2		 uncertain significance
GRCh38/hg38 16p13.11-12.1(chr16:14954894-28306843)x3 copy number gain See cases [RCV000051828] Chr16:14954894..28306843 [GRCh38]
Chr16:15048751..28318164 [GRCh37]
Chr16:14956252..28225665 [NCBI36]
Chr16:16p13.11-12.1		 pathogenic
GRCh38/hg38 16p12.2-11.2(chr16:21463739-29249579)x3 copy number gain See cases [RCV000051829] Chr16:21463739..29249579 [GRCh38]
Chr16:21475060..29260900 [GRCh37]
Chr16:21382561..29168401 [NCBI36]
Chr16:16p12.2-11.2		 pathogenic
GRCh38/hg38 16p12.2-11.2(chr16:21602183-29314373)x3 copy number gain See cases [RCV000051842] Chr16:21602183..29314373 [GRCh38]
Chr16:21613504..29325694 [GRCh37]
Chr16:21521005..29233195 [NCBI36]
Chr16:16p12.2-11.2		 pathogenic
GRCh38/hg38 16p12.2-12.1(chr16:21600992-28323344)x1 copy number loss See cases [RCV000052519] Chr16:21600992..28323344 [GRCh38]
Chr16:21612313..28334665 [GRCh37]
Chr16:21519814..28242166 [NCBI36]
Chr16:16p12.2-12.1		 pathogenic
GRCh38/hg38 16p12.2(chr16:21299678-22396751)x3 copy number gain See cases [RCV000053116] Chr16:21299678..22396751 [GRCh38]
Chr16:21310999..22408072 [GRCh37]
Chr16:21218500..22315573 [NCBI36]
Chr16:16p12.2		 uncertain significance
GRCh38/hg38 16p12.2(chr16:21463739-22634444)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053117]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053117]|See cases [RCV000053117] Chr16:21463739..22634444 [GRCh38]
Chr16:21475060..22645765 [GRCh37]
Chr16:21382561..22553266 [NCBI36]
Chr16:16p12.2		 uncertain significance
GRCh37/hg19 16p12.2(chr16:21817921-22710614) copy number loss Neurodevelopmental delay [RCV002280696] Chr16:21817921..22710614 [GRCh37]
Chr16:16p12.2		 pathogenic
GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3 copy number gain See cases [RCV000133809] Chr16:4644892..29170820 [GRCh38]
Chr16:4694893..29182141 [GRCh37]
Chr16:4634894..29089642 [NCBI36]
Chr16:16p13.3-11.2		 pathogenic
GRCh38/hg38 16p12.2(chr16:21826171-22358401)x3 copy number gain See cases [RCV000050396] Chr16:21826171..22358401 [GRCh38]
Chr16:21837492..22369722 [GRCh37]
Chr16:21744993..22277223 [NCBI36]
Chr16:16p12.2		 uncertain significance
GRCh38/hg38 16p12.2(chr16:21948629-22396630)x1 copy number loss See cases [RCV000134017] Chr16:21948629..22396630 [GRCh38]
Chr16:21959950..22407951 [GRCh37]
Chr16:21867451..22315452 [NCBI36]
Chr16:16p12.2		 uncertain significance|conflicting data from submitters
GRCh38/hg38 16p12.2(chr16:22055774-22634444)x3 copy number gain See cases [RCV000135757] Chr16:22055774..22634444 [GRCh38]
Chr16:22067095..22645765 [GRCh37]
Chr16:21974596..22553266 [NCBI36]
Chr16:16p12.2		 uncertain significance
GRCh38/hg38 16p12.2(chr16:21826171-22358401)x1 copy number loss See cases [RCV000135416] Chr16:21826171..22358401 [GRCh38]
Chr16:21837492..22369722 [GRCh37]
Chr16:21744993..22277223 [NCBI36]
Chr16:16p12.2		 uncertain significance
GRCh38/hg38 16p12.2(chr16:21827098-22396630)x1 copy number loss See cases [RCV000135984] Chr16:21827098..22396630 [GRCh38]
Chr16:21838419..22407951 [GRCh37]
Chr16:21745920..22315452 [NCBI36]
Chr16:16p12.2		 conflicting data from submitters
GRCh38/hg38 16p12.2(chr16:21717046-22634444)x3 copy number gain See cases [RCV000137742] Chr16:21717046..22634444 [GRCh38]
Chr16:21728367..22645765 [GRCh37]
Chr16:21635868..22553266 [NCBI36]
Chr16:16p12.2		 uncertain significance
GRCh38/hg38 16p12.2(chr16:21826171-22436900)x3 copy number gain See cases [RCV000137796] Chr16:21826171..22436900 [GRCh38]
Chr16:21837492..22448221 [GRCh37]
Chr16:21744993..22355722 [NCBI36]
Chr16:16p12.2		 uncertain significance
GRCh38/hg38 16p12.2(chr16:21786451-22547506)x3 copy number gain See cases [RCV000138712] Chr16:21786451..22547506 [GRCh38]
Chr16:21797772..22558827 [GRCh37]
Chr16:21705273..22466328 [NCBI36]
Chr16:16p12.2		 uncertain significance
GRCh38/hg38 16p12.2(chr16:21790568-22699293)x1 copy number loss See cases [RCV000139921] Chr16:21790568..22699293 [GRCh38]
Chr16:21801889..22710614 [GRCh37]
Chr16:21709390..22618115 [NCBI36]
Chr16:16p12.2		 uncertain significance
GRCh38/hg38 16p12.2-11.2(chr16:21350622-29202837)x3 copy number gain See cases [RCV000140235] Chr16:21350622..29202837 [GRCh38]
Chr16:21361943..29214158 [GRCh37]
Chr16:21269444..29121659 [NCBI36]
Chr16:16p12.2-11.2		 likely pathogenic
GRCh38/hg38 16p12.2(chr16:21940058-22436900)x1 copy number loss See cases [RCV000140693] Chr16:21940058..22436900 [GRCh38]
Chr16:21951379..22448221 [GRCh37]
Chr16:21858880..22355722 [NCBI36]
Chr16:16p12.2		 conflicting data from submitters
GRCh38/hg38 16p12.2(chr16:21750083-22420036)x1 copy number loss See cases [RCV000141959] Chr16:21750083..22420036 [GRCh38]
Chr16:21761404..22431357 [GRCh37]
Chr16:21668905..22338858 [NCBI36]
Chr16:16p12.2		 uncertain significance
GRCh38/hg38 16p12.2(chr16:21919927-22430686)x1 copy number loss See cases [RCV000141860] Chr16:21919927..22430686 [GRCh38]
Chr16:21931248..22442007 [GRCh37]
Chr16:21838749..22349508 [NCBI36]
Chr16:16p12.2		 uncertain significance
GRCh38/hg38 16p12.2(chr16:21750083-22430686)x1 copy number loss See cases [RCV000142326] Chr16:21750083..22430686 [GRCh38]
Chr16:21761404..22442007 [GRCh37]
Chr16:21668905..22349508 [NCBI36]
Chr16:16p12.2		 uncertain significance
GRCh38/hg38 16p12.2(chr16:21790568-22420036)x1 copy number loss See cases [RCV000142076] Chr16:21790568..22420036 [GRCh38]
Chr16:21801889..22431357 [GRCh37]
Chr16:21709390..22338858 [NCBI36]
Chr16:16p12.2		 uncertain significance
GRCh38/hg38 16p12.2(chr16:21790568-22430686)x1 copy number loss See cases [RCV000143407] Chr16:21790568..22430686 [GRCh38]
Chr16:21801889..22442007 [GRCh37]
Chr16:21709390..22349508 [NCBI36]
Chr16:16p12.2		 uncertain significance
GRCh38/hg38 16p12.2(chr16:21935201-22430686)x1 copy number loss See cases [RCV000143283] Chr16:21935201..22430686 [GRCh38]
Chr16:21946522..22442007 [GRCh37]
Chr16:21854023..22349508 [NCBI36]
Chr16:16p12.2		 uncertain significance
GRCh38/hg38 16p12.2(chr16:21919927-22420036)x1 copy number loss See cases [RCV000143465] Chr16:21919927..22420036 [GRCh38]
Chr16:21931248..22431357 [GRCh37]
Chr16:21838749..22338858 [NCBI36]
Chr16:16p12.2		 uncertain significance
GRCh38/hg38 16p12.2(chr16:21826171-22396610)x1 copy number loss See cases [RCV000148150] Chr16:21826171..22396610 [GRCh38]
Chr16:21837492..22407931 [GRCh37]
Chr16:21744993..22315432 [NCBI36]
Chr16:16p12.2		 uncertain significance
GRCh38/hg38 16p12.2(chr16:21825971-22396751)x1 copy number loss See cases [RCV000148152] Chr16:21825971..22396751 [GRCh38]
Chr16:21837292..22408072 [GRCh37]
Chr16:21744793..22315573 [NCBI36]
Chr16:16p12.2		 uncertain significance
GRCh38/hg38 16p12.2(chr16:21826171-22396610)x3 copy number gain See cases [RCV000148139] Chr16:21826171..22396610 [GRCh38]
Chr16:21837492..22407931 [GRCh37]
Chr16:21744993..22315432 [NCBI36]
Chr16:16p12.2		 uncertain significance
GRCh37/hg19 16p12.2(chr16:21968752-22407931)x1 copy number loss See cases [RCV000240111] Chr16:21968752..22407931 [GRCh37]
Chr16:16p12.2		 uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3 copy number gain See cases [RCV000203445] Chr16:102839..28327676 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
GRCh37/hg19 16p12.3-11.2(chr16:19590412-29814175)x3 copy number gain Breast ductal adenocarcinoma [RCV000207226] Chr16:19590412..29814175 [GRCh37]
Chr16:16p12.3-11.2		 uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3 copy number gain Breast ductal adenocarcinoma [RCV000207053] Chr16:1279324..31926800 [GRCh37]
Chr16:16p13.3-11.2		 uncertain significance
GRCh37/hg19 16p12.2(chr16:21771016-22409463)x1 copy number loss See cases [RCV000207445] Chr16:21771016..22409463 [GRCh37]
Chr16:16p12.2		 pathogenic
GRCh37/hg19 16p12.2(chr16:21976691-22407931)x1 copy number loss See cases [RCV000240052] Chr16:21976691..22407931 [GRCh37]
Chr16:16p12.2		 uncertain significance
GRCh37/hg19 16p12.2(chr16:21806299-22407931)x1 copy number loss See cases [RCV000239891] Chr16:21806299..22407931 [GRCh37]
Chr16:16p12.2		 uncertain significance
GRCh37/hg19 16p12.2(chr16:21968752-22407931)x3 copy number gain See cases [RCV000240025] Chr16:21968752..22407931 [GRCh37]
Chr16:16p12.2		 uncertain significance
GRCh37/hg19 16p12.2(chr16:21817619-22407931)x1 copy number loss See cases [RCV000240390] Chr16:21817619..22407931 [GRCh37]
Chr16:16p12.2		 uncertain significance
NC_000016.9:g.21530207_29332245del deletion not provided [RCV001030428] Chr16:21530207..29332245 [GRCh37]
Chr16:16p12.2-11.2		 pathogenic
GRCh37/hg19 16p12.3-11.2(chr16:19424115-30142220)x3 copy number gain See cases [RCV000449403] Chr16:19424115..30142220 [GRCh37]
Chr16:16p12.3-11.2		 pathogenic
GRCh37/hg19 16p12.2(chr16:21761404-22431357)x1 copy number loss See cases [RCV000449301] Chr16:21761404..22431357 [GRCh37]
Chr16:16p12.2		 pathogenic
GRCh37/hg19 16p12.2(chr16:21801889-22710614)x1 copy number loss See cases [RCV000446260] Chr16:21801889..22710614 [GRCh37]
Chr16:16p12.2		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p12.2(chr16:21801889-22431357)x1 copy number loss not specified [RCV003987166] Chr16:21801889..22431357 [GRCh37]
Chr16:16p12.2		 pathogenic
GRCh37/hg19 16p12.2(chr16:21852931-22431357)x3 copy number gain See cases [RCV000445767] Chr16:21852931..22431357 [GRCh37]
Chr16:16p12.2		 uncertain significance
NC_000016.10:g.(?_21939023)_(22424261_?)del deletion Schizophrenia [RCV000416649] Chr16:21939023..22424261 [GRCh38]
Chr16:21950344..22435582 [GRCh37]
Chr16:21857845..22343083 [NCBI36]
Chr16:16p12.2		 likely pathogenic
GRCh37/hg19 16p12.2(chr16:21801889-22431357)x3 copy number gain See cases [RCV000448291] Chr16:21801889..22431357 [GRCh37]
Chr16:16p12.2		 uncertain significance
NC_000016.10:g.(?_21939023)_(22434144_?)dup duplication Schizophrenia [RCV000416817] Chr16:21939023..22434144 [GRCh38]
Chr16:21950344..22445465 [GRCh37]
Chr16:21857845..22352966 [NCBI36]
Chr16:16p12.2		 likely pathogenic
GRCh37/hg19 16p12.2(chr16:21986752-22407872)x1 copy number loss See cases [RCV000448074] Chr16:21986752..22407872 [GRCh37]
Chr16:16p12.2		 pathogenic
GRCh37/hg19 16p12.2(chr16:21841455-22441367)x3 copy number gain See cases [RCV000510489] Chr16:21841455..22441367 [GRCh37]
Chr16:16p12.2		 uncertain significance
GRCh37/hg19 16p12.2(chr16:21761405-22431357)x1 copy number loss See cases [RCV000510163] Chr16:21761405..22431357 [GRCh37]
Chr16:16p12.2		 uncertain significance
GRCh37/hg19 16p12.2(chr16:21931248-22431357)x3 copy number gain See cases [RCV000511685] Chr16:21931248..22431357 [GRCh37]
Chr16:16p12.2		 likely benign
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3 copy number gain See cases [RCV000511622] Chr16:9273328..89548493 [GRCh37]
Chr16:16p13.2-q24.3		 uncertain significance
GRCh37/hg19 16p12.2(chr16:21801488-22441367)x3 copy number gain See cases [RCV000511821] Chr16:21801488..22441367 [GRCh37]
Chr16:16p12.2		 likely benign
GRCh37/hg19 16p12.2(chr16:21801889-22431357)x3 copy number gain See cases [RCV000511874] Chr16:21801889..22431357 [GRCh37]
Chr16:16p12.2		 conflicting data from submitters
GRCh37/hg19 16p12.2(chr16:21801889-22441367)x3 copy number gain See cases [RCV000511089] Chr16:21801889..22441367 [GRCh37]
Chr16:16p12.2		 likely benign
GRCh37/hg19 16p12.2-11.2(chr16:21596299-30399167)x1 copy number loss See cases [RCV000511271] Chr16:21596299..30399167 [GRCh37]
Chr16:16p12.2-11.2		 pathogenic
GRCh37/hg19 16p12.2(chr16:21801890-22442007)x1 copy number loss See cases [RCV000510848] Chr16:21801890..22442007 [GRCh37]
Chr16:16p12.2		 uncertain significance
maternal UPD(16p) complex Hemimegalencephaly [RCV000494707] Chr16:1280042..33710558 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_173615.5(VWA3A):c.2330C>T (p.Pro777Leu) single nucleotide variant not specified [RCV004324144] Chr16:22140191 [GRCh38]
Chr16:22151512 [GRCh37]
Chr16:16p12.2		 likely benign
NM_173615.5(VWA3A):c.260G>C (p.Trp87Ser) single nucleotide variant not specified [RCV004300311] Chr16:22100228 [GRCh38]
Chr16:22111549 [GRCh37]
Chr16:16p12.2		 uncertain significance
GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3 copy number gain See cases [RCV000511360] Chr16:85880..22442007 [GRCh37]
Chr16:16p13.3-12.2		 pathogenic
GRCh37/hg19 16p12.2(chr16:21787031-22431357)x3 copy number gain See cases [RCV000512259] Chr16:21787031..22431357 [GRCh37]
Chr16:16p12.2		 uncertain significance
GRCh37/hg19 16p12.3-11.2(chr16:18238275-30177240)x3 copy number gain See cases [RCV000512428] Chr16:18238275..30177240 [GRCh37]
Chr16:16p12.3-11.2		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p12.2-11.2(chr16:21379628-29351826)x3 copy number gain See cases [RCV000512478] Chr16:21379628..29351826 [GRCh37]
Chr16:16p12.2-11.2		 pathogenic
GRCh37/hg19 16p12.2(chr16:21841455-22431357)x1 copy number loss See cases [RCV000512595] Chr16:21841455..22431357 [GRCh37]
Chr16:16p12.2		 uncertain significance
Single allele deletion not provided [RCV000677933] Chr16:21957432..22396611 [GRCh38]
Chr16:21968752..22407931 [GRCh37]
Chr16:16p12.2		 uncertain significance
GRCh37/hg19 16p12.2-11.2(chr16:21379628-29379768)x1 copy number loss not provided [RCV000683786] Chr16:21379628..29379768 [GRCh37]
Chr16:16p12.2-11.2		 pathogenic
GRCh37/hg19 16p12.2(chr16:21801889-22389376)x3 copy number gain not provided [RCV000683787] Chr16:21801889..22389376 [GRCh37]
Chr16:16p12.2		 uncertain significance
GRCh37/hg19 16p12.2(chr16:21801889-22431357)x3 copy number gain not provided [RCV000683789] Chr16:21801889..22431357 [GRCh37]
Chr16:16p12.2		 uncertain significance
GRCh37/hg19 16p12.2(chr16:21801889-22431357)x1 copy number loss not provided [RCV000683788] Chr16:21801889..22431357 [GRCh37]
Chr16:16p12.2		 pathogenic
GRCh37/hg19 16p12.2(chr16:21801889-22442007)x1 copy number loss not provided [RCV000683790] Chr16:21801889..22442007 [GRCh37]
Chr16:16p12.2		 pathogenic
GRCh37/hg19 16p12.2(chr16:21817921-22710614)x1 copy number loss not provided [RCV000683791] Chr16:21817921..22710614 [GRCh37]
Chr16:16p12.2		 pathogenic
GRCh37/hg19 16p12.2(chr16:21841455-22710614)x1 copy number loss not provided [RCV000683792] Chr16:21841455..22710614 [GRCh37]
Chr16:16p12.2		 pathogenic
GRCh37/hg19 16p12.2(chr16:21931247-22710614)x1 copy number loss not provided [RCV000683793] Chr16:21931247..22710614 [GRCh37]
Chr16:16p12.2		 pathogenic
GRCh37/hg19 16p12.2(chr16:21946044-22431357)x3 copy number gain not provided [RCV000683794] Chr16:21946044..22431357 [GRCh37]
Chr16:16p12.2		 uncertain significance
GRCh37/hg19 16p12.2(chr16:21948756-22442007)x1 copy number loss not provided [RCV000683795] Chr16:21948756..22442007 [GRCh37]
Chr16:16p12.2		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NC_000016.10:g.(?_21928119)_(22428075_?)del deletion Schizophrenia [RCV000754178] Chr16:21928119..22428075 [GRCh38]
Chr16:16p12.2		 likely pathogenic
Single allele duplication Schizophrenia [RCV000754180] Chr16:21928119..22435412 [GRCh38]
Chr16:16p12.2		 likely pathogenic
Single allele duplication Autism [RCV000754179] Chr16:21928119..22428075 [GRCh38]
Chr16:16p12.2		 likely pathogenic
GRCh37/hg19 16p12.2(chr16:21949122-22421321)x1 copy number loss not provided [RCV000739091] Chr16:21949122..22421321 [GRCh37]
Chr16:16p12.2		 benign
GRCh37/hg19 16p12.2(chr16:21949122-22443623)x1 copy number loss not provided [RCV000739092] Chr16:21949122..22443623 [GRCh37]
Chr16:16p12.2		 benign
GRCh37/hg19 16p12.2(chr16:21949122-22449883)x1 copy number loss not provided [RCV000739093] Chr16:21949122..22449883 [GRCh37]
Chr16:16p12.2		 benign
GRCh37/hg19 16p12.2(chr16:21951379-22407931)x3 copy number gain not provided [RCV000762766] Chr16:21951379..22407931 [GRCh37]
Chr16:16p12.2		 likely benign
GRCh37/hg19 16p12.2-11.2(chr16:21475039-29043958)x1 copy number loss Chromosome 16p12.2-p11.2 deletion syndrome [RCV003315282] Chr16:21475039..29043958 [GRCh37]
Chr16:16p12.2-11.2		 pathogenic
NM_173615.5(VWA3A):c.3128T>C (p.Leu1043Pro) single nucleotide variant not specified [RCV004304212] Chr16:22149930 [GRCh38]
Chr16:22161251 [GRCh37]
Chr16:16p12.2		 uncertain significance
GRCh37/hg19 16p12.2(chr16:21769324-22435811)x1 copy number loss not provided [RCV000751623] Chr16:21769324..22435811 [GRCh37]
Chr16:16p12.2		 likely pathogenic
GRCh37/hg19 16p12.2(chr16:21769324-22552780)x1 copy number loss not provided [RCV000751624] Chr16:21769324..22552780 [GRCh37]
Chr16:16p12.2		 likely pathogenic
GRCh37/hg19 16p12.2(chr16:21884192-22288219) copy number loss Chromosome 16p12.1 deletion syndrome, 520kb [RCV000767584] Chr16:21884192..22288219 [GRCh37]
Chr16:16p12.2		 pathogenic
GRCh37/hg19 16p12.2(chr16:21973828-22361172) copy number loss Chromosome 16p12.1 deletion syndrome, 520kb [RCV000767685] Chr16:21973828..22361172 [GRCh37]
Chr16:16p12.2		 likely pathogenic
GRCh37/hg19 16p12.2(chr16:21973828-22361172) copy number loss Chromosome 16p12.1 deletion syndrome, 520kb [RCV000767762] Chr16:21973828..22361172 [GRCh37]
Chr16:16p12.2		 likely pathogenic
GRCh37/hg19 16p12.2(chr16:21943463-22702769) copy number loss Chromosome 16p12.1 deletion syndrome, 520kb [RCV000767585] Chr16:21943463..22702769 [GRCh37]
Chr16:16p12.2		 likely pathogenic
GRCh37/hg19 16p12.2(chr16:21976691-22386881) copy number loss Chromosome 16p12.1 deletion syndrome, 520kb [RCV000767607] Chr16:21976691..22386881 [GRCh37]
Chr16:16p12.2		 pathogenic
GRCh37/hg19 16p12.2(chr16:21964083-22386845) copy number loss Chromosome 16p12.1 deletion syndrome, 520kb [RCV000767694] Chr16:21964083..22386845 [GRCh37]
Chr16:16p12.2		 pathogenic
GRCh37/hg19 16p12.2(chr16:21785197-22431357)x3 copy number gain not provided [RCV000846556] Chr16:21785197..22431357 [GRCh37]
Chr16:16p12.2		 uncertain significance
GRCh37/hg19 16p12.2(chr16:21841353-22442007)x3 copy number gain not provided [RCV000849792] Chr16:21841353..22442007 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_173615.5(VWA3A):c.1696G>A (p.Val566Met) single nucleotide variant not specified [RCV004315957] Chr16:22131248 [GRCh38]
Chr16:22142569 [GRCh37]
Chr16:16p12.2		 likely benign
NM_173615.5(VWA3A):c.2720T>C (p.Val907Ala) single nucleotide variant not specified [RCV004320679] Chr16:22144374 [GRCh38]
Chr16:22155695 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_173615.5(VWA3A):c.1315G>A (p.Val439Ile) single nucleotide variant not specified [RCV004321183] Chr16:22121576 [GRCh38]
Chr16:22132897 [GRCh37]
Chr16:16p12.2		 uncertain significance
GRCh37/hg19 16p12.2(chr16:21839340-22552780) copy number loss not provided [RCV001249412] Chr16:21839340..22552780 [GRCh37]
Chr16:16p12.2		 not provided
GRCh37/hg19 16p12.2(chr16:21576802-22431357)x1 copy number loss not provided [RCV001006785] Chr16:21576802..22431357 [GRCh37]
Chr16:16p12.2		 pathogenic
GRCh37/hg19 16p12.2-11.2(chr16:21576802-29351826)x3 copy number gain not provided [RCV001006786] Chr16:21576802..29351826 [GRCh37]
Chr16:16p12.2-11.2		 pathogenic
GRCh37/hg19 16p12.2-11.2(chr16:21312200-29646379)x3 copy number gain not provided [RCV001249228] Chr16:21312200..29646379 [GRCh37]
Chr16:16p12.2-11.2		 not provided
GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001) copy number gain Microcephaly [RCV001252948] Chr16:5805001..34230001 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
GRCh37/hg19 16p12.2(chr16:21931247-22431357)x3 copy number gain not provided [RCV001259248] Chr16:21931247..22431357 [GRCh37]
Chr16:16p12.2		 uncertain significance
GRCh37/hg19 16p12.2(chr16:21801889-22710614) copy number loss Proximal 16p11.2 microdeletion syndrome [RCV002280618] Chr16:21801889..22710614 [GRCh37]
Chr16:16p12.2		 pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3 copy number gain See cases [RCV001263169] Chr16:2959279..30190593 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic|likely pathogenic
GRCh37/hg19 16p12.2(chr16:21951379-22407931) copy number loss Global developmental delay [RCV001291949] Chr16:21951379..22407931 [GRCh37]
Chr16:16p12.2		 pathogenic
GRCh37/hg19 16p12.2(chr16:21946438-22441358)x1 copy number loss not provided [RCV001270660] Chr16:21946438..22441358 [GRCh37]
Chr16:16p12.2		 pathogenic
GRCh37/hg19 16p12.2(chr16:21936726-22461225)x1 copy number loss See cases [RCV001526485] Chr16:21936726..22461225 [GRCh37]
Chr16:16p12.2		 likely pathogenic
GRCh37/hg19 16p12.2(chr16:21931247-22431128)x3 copy number gain not provided [RCV001834408] Chr16:21931247..22431128 [GRCh37]
Chr16:16p12.2		 uncertain significance
GRCh37/hg19 16p12.2(chr16:21964695-22376385)x1 copy number loss Chromosome 16p12.1 deletion syndrome, 520kb [RCV001801185] Chr16:21964695..22376385 [GRCh37]
Chr16:16p12.2		 pathogenic
GRCh37/hg19 16p12.2(chr16:21751992-22546976)x1 copy number loss Obesity [RCV001801192] Chr16:21751992..22546976 [GRCh37]
Chr16:16p12.2		 pathogenic
GRCh37/hg19 16p12.2(chr16:21869250-22524572)x1 copy number loss Chromosome 16p12.1 deletion syndrome, 520kb [RCV001801217] Chr16:21869250..22524572 [GRCh37]
Chr16:16p12.2		 pathogenic
GRCh37/hg19 16p12.2(chr16:21747532-22824584)x1 copy number loss Chromosome 16p12.1 deletion syndrome, 520kb [RCV001801219] Chr16:21747532..22824584 [GRCh37]
Chr16:16p12.2		 pathogenic
GRCh37/hg19 16p12.2-11.2(chr16:21594997-29625302)x1 copy number loss not provided [RCV001795549] Chr16:21594997..29625302 [GRCh37]
Chr16:16p12.2-11.2		 pathogenic
GRCh37/hg19 16p12.2(chr16:21781158-22825913)x1 copy number loss Chromosome 16p12.1 deletion syndrome, 520kb [RCV001801203] Chr16:21781158..22825913 [GRCh37]
Chr16:16p12.2		 pathogenic
GRCh37/hg19 16p12.2(chr16:21571710-22428364)x3 copy number gain not provided [RCV001825320] Chr16:21571710..22428364 [GRCh37]
Chr16:16p12.2		 not provided
GRCh37/hg19 16p12.2(chr16:21761405-22710614)x3 copy number gain not provided [RCV001827788] Chr16:21761405..22710614 [GRCh37]
Chr16:16p12.2		 uncertain significance
GRCh37/hg19 16p12.2(chr16:21761404-22431357)x3 copy number gain not provided [RCV001834410] Chr16:21761404..22431357 [GRCh37]
Chr16:16p12.2		 uncertain significance
NC_000016.10:g.21936825_22429665del deletion Chromosome 16p12.1 deletion syndrome, 520kb [RCV003336508] Chr16:21936825..22429665 [GRCh38]
Chr16:16p12.2		 pathogenic
GRCh37/hg19 16p12.2(chr16:21801889-22431357) copy number loss Proximal 16p11.2 microdeletion syndrome [RCV002280677] Chr16:21801889..22431357 [GRCh37]
Chr16:16p12.2		 pathogenic
GRCh37/hg19 16p12.2(chr16:21837492-22407931)x1 copy number loss not provided [RCV002279762] Chr16:21837492..22407931 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_173615.5(VWA3A):c.907G>A (p.Asp303Asn) single nucleotide variant not specified [RCV004323849] Chr16:22116850 [GRCh38]
Chr16:22128171 [GRCh37]
Chr16:16p12.2		 uncertain significance
GRCh37/hg19 16p12.2(chr16:21931248-22431357)x1 copy number loss not provided [RCV002474590] Chr16:21931248..22431357 [GRCh37]
Chr16:16p12.2		 pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3 copy number gain not provided [RCV002472599] Chr16:4380767..30445350 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
GRCh37/hg19 16p12.2(chr16:21967066-22431357)x3 copy number gain not provided [RCV002474951] Chr16:21967066..22431357 [GRCh37]
Chr16:16p12.2		 uncertain significance
GRCh37/hg19 16p12.2(chr16:21761405-22710614)x1 copy number loss not provided [RCV002474548] Chr16:21761405..22710614 [GRCh37]
Chr16:16p12.2		 pathogenic
GRCh37/hg19 16p12.2-11.2(chr16:21576803-30177240)x3 copy number gain not provided [RCV002474541] Chr16:21576803..30177240 [GRCh37]
Chr16:16p12.2-11.2		 pathogenic
NM_173615.5(VWA3A):c.1815C>A (p.Asp605Glu) single nucleotide variant not specified [RCV004193955] Chr16:22131672 [GRCh38]
Chr16:22142993 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_173615.5(VWA3A):c.1915G>A (p.Asp639Asn) single nucleotide variant not specified [RCV004097625] Chr16:22132942 [GRCh38]
Chr16:22144263 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_173615.5(VWA3A):c.403C>T (p.Arg135Cys) single nucleotide variant not specified [RCV004233766] Chr16:22100468 [GRCh38]
Chr16:22111789 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_173615.5(VWA3A):c.3325G>A (p.Gly1109Arg) single nucleotide variant not specified [RCV004231312] Chr16:22152554 [GRCh38]
Chr16:22163875 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_173615.5(VWA3A):c.2290A>G (p.Met764Val) single nucleotide variant not specified [RCV004171343] Chr16:22138510 [GRCh38]
Chr16:22149831 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_173615.5(VWA3A):c.1321A>G (p.Ile441Val) single nucleotide variant not specified [RCV004212914] Chr16:22121582 [GRCh38]
Chr16:22132903 [GRCh37]
Chr16:16p12.2		 uncertain significance
GRCh37/hg19 16p12.2(chr16:21780595-22385630)x1 copy number loss not provided [RCV002511851] Chr16:21780595..22385630 [GRCh37]
Chr16:16p12.2		 likely pathogenic
NM_173615.5(VWA3A):c.1204A>T (p.Asn402Tyr) single nucleotide variant not specified [RCV004219295] Chr16:22121055 [GRCh38]
Chr16:22132376 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_173615.5(VWA3A):c.3328C>T (p.Arg1110Cys) single nucleotide variant not specified [RCV004147363] Chr16:22152557 [GRCh38]
Chr16:22163878 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_173615.5(VWA3A):c.1073A>C (p.Gln358Pro) single nucleotide variant not specified [RCV004237547] Chr16:22118984 [GRCh38]
Chr16:22130305 [GRCh37]
Chr16:16p12.2		 uncertain significance
GRCh37/hg19 16p12.2(chr16:21846039-22385630)x1 copy number loss not provided [RCV002511852] Chr16:21846039..22385630 [GRCh37]
Chr16:16p12.2		 likely pathogenic
NM_173615.5(VWA3A):c.595G>A (p.Glu199Lys) single nucleotide variant not specified [RCV004114810] Chr16:22110900 [GRCh38]
Chr16:22122221 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_173615.5(VWA3A):c.2527G>A (p.Gly843Ser) single nucleotide variant not specified [RCV004192303] Chr16:22142700 [GRCh38]
Chr16:22154021 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_173615.5(VWA3A):c.1399A>C (p.Asn467His) single nucleotide variant not specified [RCV004225826] Chr16:22123127 [GRCh38]
Chr16:22134448 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_173615.5(VWA3A):c.1945G>A (p.Val649Met) single nucleotide variant not specified [RCV004083303] Chr16:22132972 [GRCh38]
Chr16:22144293 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_173615.5(VWA3A):c.647C>T (p.Ala216Val) single nucleotide variant not specified [RCV004093853] Chr16:22110952 [GRCh38]
Chr16:22122273 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_173615.5(VWA3A):c.2294G>C (p.Ser765Thr) single nucleotide variant not specified [RCV004158222] Chr16:22140155 [GRCh38]
Chr16:22151476 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_173615.5(VWA3A):c.1558G>C (p.Ala520Pro) single nucleotide variant not specified [RCV004187621] Chr16:22126203 [GRCh38]
Chr16:22137524 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_173615.5(VWA3A):c.1726C>T (p.Arg576Trp) single nucleotide variant not specified [RCV004229610] Chr16:22131278 [GRCh38]
Chr16:22142599 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_173615.5(VWA3A):c.3031A>G (p.Thr1011Ala) single nucleotide variant Inborn genetic diseases [RCV002821293] Chr16:22149833 [GRCh38]
Chr16:22161154 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_173615.5(VWA3A):c.766A>T (p.Ile256Phe) single nucleotide variant not specified [RCV004145605] Chr16:22115423 [GRCh38]
Chr16:22126744 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_173615.5(VWA3A):c.871A>G (p.Arg291Gly) single nucleotide variant not specified [RCV004131361] Chr16:22116814 [GRCh38]
Chr16:22128135 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_173615.5(VWA3A):c.2729A>G (p.His910Arg) single nucleotide variant not specified [RCV004209650] Chr16:22144383 [GRCh38]
Chr16:22155704 [GRCh37]
Chr16:16p12.2		 likely benign
NM_173615.5(VWA3A):c.2846G>A (p.Arg949His) single nucleotide variant not specified [RCV004183981] Chr16:22148168 [GRCh38]
Chr16:22159489 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_173615.5(VWA3A):c.2024T>A (p.Val675Asp) single nucleotide variant not specified [RCV004100628] Chr16:22133051 [GRCh38]
Chr16:22144372 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_173615.5(VWA3A):c.2630A>C (p.Glu877Ala) single nucleotide variant not specified [RCV004168174] Chr16:22144284 [GRCh38]
Chr16:22155605 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_173615.5(VWA3A):c.2327C>T (p.Pro776Leu) single nucleotide variant not specified [RCV004100532] Chr16:22140188 [GRCh38]
Chr16:22151509 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_173615.5(VWA3A):c.1604T>G (p.Leu535Arg) single nucleotide variant not specified [RCV004202218] Chr16:22126249 [GRCh38]
Chr16:22137570 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_173615.5(VWA3A):c.1289A>G (p.Asn430Ser) single nucleotide variant not specified [RCV004072690] Chr16:22121550 [GRCh38]
Chr16:22132871 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_173615.5(VWA3A):c.891C>A (p.Phe297Leu) single nucleotide variant not specified [RCV004172441] Chr16:22116834 [GRCh38]
Chr16:22128155 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_173615.5(VWA3A):c.1874C>T (p.Pro625Leu) single nucleotide variant not specified [RCV004145180] Chr16:22132901 [GRCh38]
Chr16:22144222 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_173615.5(VWA3A):c.376A>G (p.Lys126Glu) single nucleotide variant not specified [RCV004203345] Chr16:22100441 [GRCh38]
Chr16:22111762 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_173615.5(VWA3A):c.1749T>G (p.Cys583Trp) single nucleotide variant not specified [RCV004215730] Chr16:22131606 [GRCh38]
Chr16:22142927 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_173615.5(VWA3A):c.1909G>A (p.Gly637Ser) single nucleotide variant not specified [RCV004081361] Chr16:22132936 [GRCh38]
Chr16:22144257 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_173615.5(VWA3A):c.2129A>G (p.Tyr710Cys) single nucleotide variant not specified [RCV004222440] Chr16:22134428 [GRCh38]
Chr16:22145749 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_173615.5(VWA3A):c.3461T>C (p.Ile1154Thr) single nucleotide variant not specified [RCV004324771] Chr16:22155622 [GRCh38]
Chr16:22166943 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_173615.5(VWA3A):c.2476G>A (p.Glu826Lys) single nucleotide variant not specified [RCV004276972] Chr16:22141674 [GRCh38]
Chr16:22152995 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_173615.5(VWA3A):c.1253C>A (p.Ala418Asp) single nucleotide variant not specified [RCV004267968] Chr16:22121514 [GRCh38]
Chr16:22132835 [GRCh37]
Chr16:16p12.2		 uncertain significance
GRCh37/hg19 16p12.2(chr16:21964745-22385630)x1 copy number loss not provided [RCV003222893] Chr16:21964745..22385630 [GRCh37]
Chr16:16p12.2		 likely pathogenic
NM_173615.5(VWA3A):c.1645C>T (p.Leu549Phe) single nucleotide variant not specified [RCV004265690] Chr16:22126290 [GRCh38]
Chr16:22137611 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_173615.5(VWA3A):c.3056C>T (p.Ala1019Val) single nucleotide variant not specified [RCV004260048] Chr16:22149858 [GRCh38]
Chr16:22161179 [GRCh37]
Chr16:16p12.2		 uncertain significance
GRCh37/hg19 16p12.2(chr16:21858865-22361170)x3 copy number gain not provided [RCV003326951] Chr16:21858865..22361170 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_173615.5(VWA3A):c.2498C>T (p.Ser833Leu) single nucleotide variant not specified [RCV004355008] Chr16:22142671 [GRCh38]
Chr16:22153992 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_173615.5(VWA3A):c.3414A>G (p.Thr1138=) single nucleotide variant not provided [RCV003426630] Chr16:22155575 [GRCh38]
Chr16:22166896 [GRCh37]
Chr16:16p12.2		 likely benign
GRCh37/hg19 16p12.2(chr16:21946522-22710614)x1 copy number loss not specified [RCV003987143] Chr16:21946522..22710614 [GRCh37]
Chr16:16p12.2		 pathogenic
GRCh37/hg19 16p12.2(chr16:21787504-22431357)x3 copy number gain not specified [RCV003987154] Chr16:21787504..22431357 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_173615.5(VWA3A):c.1930G>A (p.Val644Met) single nucleotide variant not specified [RCV004485107] Chr16:22132957 [GRCh38]
Chr16:22144278 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_173615.5(VWA3A):c.2185C>G (p.Leu729Val) single nucleotide variant not specified [RCV004485108] Chr16:22138405 [GRCh38]
Chr16:22149726 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_173615.5(VWA3A):c.346G>A (p.Val116Met) single nucleotide variant not specified [RCV004485116] Chr16:22100314 [GRCh38]
Chr16:22111635 [GRCh37]
Chr16:16p12.2		 uncertain significance
GRCh37/hg19 16p12.2(chr16:21964682-22385940)x1 copy number loss not provided [RCV003885477] Chr16:21964682..22385940 [GRCh37]
Chr16:16p12.2		 likely pathogenic
NM_173615.5(VWA3A):c.1360G>A (p.Ala454Thr) single nucleotide variant not specified [RCV004485106] Chr16:22123088 [GRCh38]
Chr16:22134409 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_173615.5(VWA3A):c.2351G>A (p.Arg784His) single nucleotide variant not specified [RCV004485109] Chr16:22140212 [GRCh38]
Chr16:22151533 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_173615.5(VWA3A):c.2544C>A (p.Ser848Arg) single nucleotide variant not specified [RCV004485110] Chr16:22142717 [GRCh38]
Chr16:22154038 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_173615.5(VWA3A):c.3254A>G (p.His1085Arg) single nucleotide variant not specified [RCV004485115] Chr16:22150819 [GRCh38]
Chr16:22162140 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_173615.5(VWA3A):c.370G>A (p.Val124Met) single nucleotide variant not specified [RCV004485118] Chr16:22100435 [GRCh38]
Chr16:22111756 [GRCh37]
Chr16:16p12.2		 likely benign
NM_173615.5(VWA3A):c.591C>G (p.Ile197Met) single nucleotide variant not specified [RCV004485121] Chr16:22110896 [GRCh38]
Chr16:22122217 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_173615.5(VWA3A):c.260G>T (p.Trp87Leu) single nucleotide variant not specified [RCV004485111] Chr16:22100228 [GRCh38]
Chr16:22111549 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_173615.5(VWA3A):c.2686G>A (p.Ala896Thr) single nucleotide variant not specified [RCV004485112] Chr16:22144340 [GRCh38]
Chr16:22155661 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_173615.5(VWA3A):c.3542T>C (p.Val1181Ala) single nucleotide variant not specified [RCV004485117] Chr16:22155889 [GRCh38]
Chr16:22167210 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_173615.5(VWA3A):c.53C>G (p.Thr18Ser) single nucleotide variant not specified [RCV004485120] Chr16:22096897 [GRCh38]
Chr16:22108218 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_173615.5(VWA3A):c.740G>A (p.Ser247Asn) single nucleotide variant not specified [RCV004485122] Chr16:22115397 [GRCh38]
Chr16:22126718 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_173615.5(VWA3A):c.796G>C (p.Val266Leu) single nucleotide variant not specified [RCV004485123] Chr16:22115453 [GRCh38]
Chr16:22126774 [GRCh37]
Chr16:16p12.2		 uncertain significance
GRCh37/hg19 16p12.2(chr16:21771791-22659880)x1 copy number loss not provided [RCV003885476] Chr16:21771791..22659880 [GRCh37]
Chr16:16p12.2		 likely pathogenic
NM_173615.5(VWA3A):c.2719G>A (p.Val907Ile) single nucleotide variant not specified [RCV004485113] Chr16:22144373 [GRCh38]
Chr16:22155694 [GRCh37]
Chr16:16p12.2		 likely benign
NM_173615.5(VWA3A):c.2731G>A (p.Gly911Arg) single nucleotide variant not specified [RCV004485114] Chr16:22146236 [GRCh38]
Chr16:22157557 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_173615.5(VWA3A):c.404G>A (p.Arg135His) single nucleotide variant not specified [RCV004485119] Chr16:22100469 [GRCh38]
Chr16:22111790 [GRCh37]
Chr16:16p12.2		 likely benign
GRCh37/hg19 16p12.2(chr16:21964745-22456395)x1 copy number loss not provided [RCV003885478] Chr16:21964745..22456395 [GRCh37]
Chr16:16p12.2		 likely pathogenic
NM_173615.5(VWA3A):c.916A>T (p.Met306Leu) single nucleotide variant not specified [RCV004485124] Chr16:22116859 [GRCh38]
Chr16:22128180 [GRCh37]
Chr16:16p12.2		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3047
Count of miRNA genes:1003
Interacting mature miRNAs:1257
Transcripts:ENST00000299840, ENST00000389397, ENST00000389398, ENST00000562340, ENST00000563389, ENST00000563755, ENST00000566668, ENST00000567131, ENST00000568328
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.

Markers in Region
SHGC-37352  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371622,168,007 - 22,168,131UniSTSGRCh37
Build 361622,075,508 - 22,075,632RGDNCBI36
Celera1620,947,912 - 20,948,036RGD
Cytogenetic Map16p12.2UniSTS
HuRef1620,412,745 - 20,412,869UniSTS
TNG Radiation Hybrid Map1612561.0UniSTS
RH78975  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371622,167,796 - 22,167,925UniSTSGRCh37
Build 361622,075,297 - 22,075,426RGDNCBI36
Celera1620,947,701 - 20,947,830RGD
Cytogenetic Map16p12.2UniSTS
HuRef1620,412,534 - 20,412,663UniSTS
GeneMap99-GB4 RH Map16191.13UniSTS
NCBI RH Map16221.2UniSTS


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 visual system adipose tissue appendage entire extraembryonic component
High
Medium 1 265 1 1 1 1 559 276 245
Low 689 382 361 8 245 6 1701 443 2731 77 605 700 4 357 1124 1
Below cutoff 1629 2549 940 474 1335 317 2515 1702 410 243 494 524 166 1 847 1637 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_034015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_173615 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545742 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545744 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545745 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545746 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022948 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022949 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450158 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047433627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047433629 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047433630 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047433631 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047433632 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047433633 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047433634 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047433635 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047433636 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047433637 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332141 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332142 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332143 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332145 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379630 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379631 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379632 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379633 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379634 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379635 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007064855 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007064856 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007064857 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC009019 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC241411 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC243828 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK093467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK098260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK128606 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307544 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY360464 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC038400 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC109294 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC109295 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471249 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA102773 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA240074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA317287 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000299840   ⟹   ENSP00000299840
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1622,121,024 - 22,156,100 (+)Ensembl
RefSeq Acc Id: ENST00000389398   ⟹   ENSP00000374049
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1622,092,541 - 22,156,964 (+)Ensembl
RefSeq Acc Id: ENST00000562340
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1622,092,538 - 22,110,912 (+)Ensembl
RefSeq Acc Id: ENST00000563389   ⟹   ENSP00000457167
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1622,131,712 - 22,138,552 (+)Ensembl
RefSeq Acc Id: ENST00000563755   ⟹   ENSP00000456513
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1622,146,272 - 22,155,902 (+)Ensembl
RefSeq Acc Id: ENST00000566668
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1622,092,541 - 22,138,425 (+)Ensembl
RefSeq Acc Id: ENST00000567131   ⟹   ENSP00000457368
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1622,092,540 - 22,110,979 (+)Ensembl
RefSeq Acc Id: ENST00000568328   ⟹   ENSP00000457770
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1622,092,542 - 22,138,397 (+)Ensembl
RefSeq Acc Id: NM_173615   ⟹   NP_775886
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381622,092,541 - 22,156,964 (+)NCBI
GRCh371622,019,462 - 22,168,287 (+)NCBI
Build 361622,011,363 - 22,075,788 (+)NCBI Archive
Celera1620,883,746 - 20,948,192 (+)RGD
HuRef1620,348,542 - 20,413,025 (+)ENTREZGENE
CHM1_11622,223,039 - 22,287,467 (-)NCBI
T2T-CHM13v2.01622,060,249 - 22,124,650 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011545742   ⟹   XP_011544044
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381622,092,541 - 22,156,964 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545744   ⟹   XP_011544046
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381622,121,386 - 22,156,964 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545745   ⟹   XP_011544047
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381622,123,107 - 22,156,964 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545746   ⟹   XP_011544048
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381622,121,386 - 22,156,964 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047433627   ⟹   XP_047289583
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381622,092,541 - 22,156,964 (+)NCBI
RefSeq Acc Id: XM_047433629   ⟹   XP_047289585
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381622,092,541 - 22,156,964 (+)NCBI
RefSeq Acc Id: XM_047433630   ⟹   XP_047289586
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381622,092,541 - 22,156,964 (+)NCBI
RefSeq Acc Id: XM_047433631   ⟹   XP_047289587
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381622,092,541 - 22,156,964 (+)NCBI
RefSeq Acc Id: XM_047433632   ⟹   XP_047289588
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381622,092,541 - 22,156,964 (+)NCBI
RefSeq Acc Id: XM_047433633   ⟹   XP_047289589
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381622,092,541 - 22,156,964 (+)NCBI
RefSeq Acc Id: XM_047433634   ⟹   XP_047289590
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381622,092,541 - 22,156,964 (+)NCBI
RefSeq Acc Id: XM_047433635   ⟹   XP_047289591
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381622,092,541 - 22,150,839 (+)NCBI
RefSeq Acc Id: XM_047433636   ⟹   XP_047289592
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381622,092,541 - 22,141,687 (+)NCBI
RefSeq Acc Id: XM_047433637   ⟹   XP_047289593
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381622,131,632 - 22,156,964 (+)NCBI
RefSeq Acc Id: XM_054379630   ⟹   XP_054235605
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01622,060,249 - 22,125,572 (-)NCBI
RefSeq Acc Id: XM_054379631   ⟹   XP_054235606
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01622,060,249 - 22,125,572 (-)NCBI
RefSeq Acc Id: XM_054379632   ⟹   XP_054235607
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01622,060,249 - 22,095,820 (-)NCBI
RefSeq Acc Id: XM_054379633   ⟹   XP_054235608
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01622,060,249 - 22,094,925 (-)NCBI
RefSeq Acc Id: XM_054379634   ⟹   XP_054235609
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01622,060,249 - 22,094,100 (-)NCBI
RefSeq Acc Id: XM_054379635   ⟹   XP_054235610
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01622,060,249 - 22,095,820 (-)NCBI
RefSeq Acc Id: XR_007064855
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381622,092,541 - 22,149,830 (+)NCBI
RefSeq Acc Id: XR_007064856
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381622,092,541 - 22,150,780 (+)NCBI
RefSeq Acc Id: XR_007064857
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381622,092,541 - 22,152,592 (+)NCBI
Protein Sequences
Protein RefSeqs NP_775886 (Get FASTA)   NCBI Sequence Viewer  
  XP_011544044 (Get FASTA)   NCBI Sequence Viewer  
  XP_011544046 (Get FASTA)   NCBI Sequence Viewer  
  XP_011544047 (Get FASTA)   NCBI Sequence Viewer  
  XP_011544048 (Get FASTA)   NCBI Sequence Viewer  
  XP_047289583 (Get FASTA)   NCBI Sequence Viewer  
  XP_047289585 (Get FASTA)   NCBI Sequence Viewer  
  XP_047289586 (Get FASTA)   NCBI Sequence Viewer  
  XP_047289587 (Get FASTA)   NCBI Sequence Viewer  
  XP_047289588 (Get FASTA)   NCBI Sequence Viewer  
  XP_047289589 (Get FASTA)   NCBI Sequence Viewer  
  XP_047289590 (Get FASTA)   NCBI Sequence Viewer  
  XP_047289591 (Get FASTA)   NCBI Sequence Viewer  
  XP_047289592 (Get FASTA)   NCBI Sequence Viewer  
  XP_047289593 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188115 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188116 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188117 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188118 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188119 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188120 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235605 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235606 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235607 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235608 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235609 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235610 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein A6NCI4 (Get FASTA)   NCBI Sequence Viewer  
  AAH38400 (Get FASTA)   NCBI Sequence Viewer  
  AAI09296 (Get FASTA)   NCBI Sequence Viewer  
  AAQ62968 (Get FASTA)   NCBI Sequence Viewer  
  BAC04176 (Get FASTA)   NCBI Sequence Viewer  
  BAC05271 (Get FASTA)   NCBI Sequence Viewer  
  BAC87526 (Get FASTA)   NCBI Sequence Viewer  
  EAW50597 (Get FASTA)   NCBI Sequence Viewer  
  EAW50598 (Get FASTA)   NCBI Sequence Viewer  
  EAW50599 (Get FASTA)   NCBI Sequence Viewer  
  EAW50600 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000299840.6
  ENSP00000374049
  ENSP00000374049.5
  ENSP00000456513.1
  ENSP00000457167.1
  ENSP00000457368.1
  ENSP00000457770
  ENSP00000457770.1
Reference Protein Sequences
RefSeq Acc Id: NP_775886   ⟸   NM_173615
- Peptide Label: precursor
- UniProtKB: Q8IUY6 (UniProtKB/Swiss-Prot),   Q6ZQZ9 (UniProtKB/Swiss-Prot),   Q6UTX4 (UniProtKB/Swiss-Prot),   A6NNC0 (UniProtKB/Swiss-Prot),   A4QMU8 (UniProtKB/Swiss-Prot),   Q8N9W1 (UniProtKB/Swiss-Prot),   A6NCI4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011544044   ⟸   XM_011545742
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011544046   ⟸   XM_011545744
- Peptide Label: isoform X11
- Sequence:
RefSeq Acc Id: XP_011544048   ⟸   XM_011545746
- Peptide Label: isoform X13
- Sequence:
RefSeq Acc Id: XP_011544047   ⟸   XM_011545745
- Peptide Label: isoform X12
- Sequence:
RefSeq Acc Id: ENSP00000374049   ⟸   ENST00000389398
RefSeq Acc Id: ENSP00000299840   ⟸   ENST00000299840
RefSeq Acc Id: ENSP00000457167   ⟸   ENST00000563389
RefSeq Acc Id: ENSP00000456513   ⟸   ENST00000563755
RefSeq Acc Id: ENSP00000457368   ⟸   ENST00000567131
RefSeq Acc Id: ENSP00000457770   ⟸   ENST00000568328
RefSeq Acc Id: XP_047289590   ⟸   XM_047433634
- Peptide Label: isoform X8
RefSeq Acc Id: XP_047289586   ⟸   XM_047433630
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047289589   ⟸   XM_047433633
- Peptide Label: isoform X7
RefSeq Acc Id: XP_047289585   ⟸   XM_047433629
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047289588   ⟸   XM_047433632
- Peptide Label: isoform X6
RefSeq Acc Id: XP_047289583   ⟸   XM_047433627
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047289587   ⟸   XM_047433631
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047289591   ⟸   XM_047433635
- Peptide Label: isoform X9
RefSeq Acc Id: XP_047289592   ⟸   XM_047433636
- Peptide Label: isoform X10
RefSeq Acc Id: XP_047289593   ⟸   XM_047433637
- Peptide Label: isoform X14
RefSeq Acc Id: XP_054235605   ⟸   XM_054379630
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054235606   ⟸   XM_054379631
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054235610   ⟸   XM_054379635
- Peptide Label: isoform X13
RefSeq Acc Id: XP_054235607   ⟸   XM_054379632
- Peptide Label: isoform X11
RefSeq Acc Id: XP_054235608   ⟸   XM_054379633
- Peptide Label: isoform X11
RefSeq Acc Id: XP_054235609   ⟸   XM_054379634
- Peptide Label: isoform X12
Protein Domains
VWFA

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-A6NCI4-F1-model_v2 AlphaFold A6NCI4 1-1184 view protein structure

Promoters
RGD ID:7231579
Promoter ID:EPDNEW_H21535
Type:initiation region
Name:VWA3A_1
Description:von Willebrand factor A domain containing 3A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21536  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381622,092,541 - 22,092,601EPDNEW
RGD ID:7231581
Promoter ID:EPDNEW_H21536
Type:multiple initiation site
Name:VWA3A_2
Description:von Willebrand factor A domain containing 3A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21535  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381622,146,332 - 22,146,392EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:27088 AgrOrtholog
COSMIC VWA3A COSMIC
Ensembl Genes ENSG00000175267 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000299840.10 UniProtKB/TrEMBL
  ENST00000389398 ENTREZGENE
  ENST00000389398.10 UniProtKB/Swiss-Prot
  ENST00000563389.1 UniProtKB/TrEMBL
  ENST00000563755.1 UniProtKB/Swiss-Prot
  ENST00000567131.5 UniProtKB/TrEMBL
  ENST00000568328 ENTREZGENE
  ENST00000568328.5 UniProtKB/TrEMBL
Gene3D-CATH 3.40.50.410 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000175267 GTEx
HGNC ID HGNC:27088 ENTREZGENE
Human Proteome Map VWA3A Human Proteome Map
InterPro VWF_A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  vWFA_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:146177 UniProtKB/Swiss-Prot
NCBI Gene 146177 ENTREZGENE
PANTHER VON WILLEBRAND FACTOR A DOMAIN-CONTAINING PROTEIN 3A UniProtKB/Swiss-Prot
  VON WILLEBRAND FACTOR A DOMAIN-CONTAINING PROTEIN 3A UniProtKB/Swiss-Prot
  VON WILLEBRAND FACTOR A DOMAIN-CONTAINING PROTEIN 3A UniProtKB/TrEMBL
  VON WILLEBRAND FACTOR A DOMAIN-CONTAINING PROTEIN 3A UniProtKB/TrEMBL
Pfam VWA_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162408933 PharmGKB
PROSITE VWFA UniProtKB/Swiss-Prot
SMART VWA UniProtKB/Swiss-Prot
Superfamily-SCOP SSF53300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A4QMU8 ENTREZGENE
  A6NCI4 ENTREZGENE
  A6NNC0 ENTREZGENE
  H3BTG8_HUMAN UniProtKB/TrEMBL
  H3BTX3_HUMAN UniProtKB/TrEMBL
  H3BUS3_HUMAN UniProtKB/TrEMBL
  H7BXL8_HUMAN UniProtKB/TrEMBL
  Q6UTX4 ENTREZGENE
  Q6ZQZ9 ENTREZGENE
  Q8IUY6 ENTREZGENE
  Q8N9W1 ENTREZGENE
  VWA3A_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A4QMU8 UniProtKB/Swiss-Prot
  A6NNC0 UniProtKB/Swiss-Prot
  Q6UTX4 UniProtKB/Swiss-Prot
  Q6ZQZ9 UniProtKB/Swiss-Prot
  Q8IUY6 UniProtKB/Swiss-Prot
  Q8N9W1 UniProtKB/Swiss-Prot