COL4A6 (collagen type IV alpha 6 chain) - Rat Genome Database
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Gene: COL4A6 (collagen type IV alpha 6 chain) Homo sapiens
Analyze
Symbol: COL4A6
Name: collagen type IV alpha 6 chain
RGD ID: 1343037
HGNC Page HGNC
Description: An extracellular matrix structural constituent conferring tensile strength. Predicted to be involved in collagen-activated tyrosine kinase receptor signaling pathway and extracellular matrix organization. Localizes to collagen-containing extracellular matrix. Implicated in AMME complex and X-linked deafness 6.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: collagen alpha 6 type IV; collagen alpha-6(IV) chain; collagen IV, alpha-6 polypeptide; collagen of basement membrane, alpha-6; collagen type IV alpha 6; collagen, type IV, alpha 6; CXDELq22.3; DELXq22.3; DFNX6; dJ889N15.4 (Collagen Alpha 6(IV)); MGC88184
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX108,155,607 - 108,439,497 (-)EnsemblGRCh38hg38GRCh38
GRCh38X108,155,607 - 108,439,493 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X107,398,844 - 107,682,688 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X107,285,493 - 107,569,360 (-)NCBINCBI36hg18NCBI36
Build 34X107,204,990 - 107,487,805NCBI
CeleraX107,870,304 - 108,154,135 (-)NCBI
Cytogenetic MapXq22.3NCBI
HuRefX97,021,267 - 97,304,612 (-)NCBIHuRef
CHM1_1X107,309,670 - 107,593,553 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


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

Biological Process

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:1377218   PMID:1724753   PMID:2426947   PMID:3997552   PMID:6386565   PMID:6389236   PMID:6811420   PMID:6988303   PMID:7500359   PMID:7592929   PMID:7972123   PMID:8006028  
PMID:8125972   PMID:8175748   PMID:8356449   PMID:8661006   PMID:9136074   PMID:9506531   PMID:9673377   PMID:9878537   PMID:10382266   PMID:10416788   PMID:10737800   PMID:11711546  
PMID:12107410   PMID:12180907   PMID:12477932   PMID:12878203   PMID:14592452   PMID:15146197   PMID:15211113   PMID:15679046   PMID:15772651   PMID:16344560   PMID:16507901   PMID:17955302  
PMID:18074349   PMID:18474427   PMID:18782525   PMID:19422682   PMID:19913121   PMID:20359090   PMID:20452482   PMID:20628086   PMID:20673868   PMID:20951201   PMID:21380622   PMID:21832049  
PMID:21873635   PMID:21942715   PMID:23551189   PMID:23621580   PMID:23714752   PMID:24742657   PMID:25037231   PMID:25241761   PMID:26179878   PMID:26344197   PMID:26811494   PMID:27229929  
PMID:27377778   PMID:28275241   PMID:28344315   PMID:28514442   PMID:28675934   PMID:29422532   PMID:32296183   PMID:32814053  


Genomics

Comparative Map Data
COL4A6
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX108,155,607 - 108,439,497 (-)EnsemblGRCh38hg38GRCh38
GRCh38X108,155,607 - 108,439,493 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X107,398,844 - 107,682,688 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X107,285,493 - 107,569,360 (-)NCBINCBI36hg18NCBI36
Build 34X107,204,990 - 107,487,805NCBI
CeleraX107,870,304 - 108,154,135 (-)NCBI
Cytogenetic MapXq22.3NCBI
HuRefX97,021,267 - 97,304,612 (-)NCBIHuRef
CHM1_1X107,309,670 - 107,593,553 (-)NCBICHM1_1
Col4a6
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X139,948,399 - 140,257,091 (-)NCBIGRCm39mm39
GRCm39 EnsemblX139,948,399 - 140,257,072 (-)Ensembl
GRCm38X141,165,403 - 141,474,095 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX141,165,403 - 141,474,076 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X137,599,946 - 137,908,619 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X136,412,396 - 136,720,444 (-)NCBImm8
CeleraX125,173,938 - 125,484,194 (-)NCBICelera
Cytogenetic MapXF1- F2NCBI
Col4a6
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X104,766,463 - 105,117,499 (-)NCBI
Rnor_6.0 EnsemblX112,405,647 - 112,473,822 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X112,405,647 - 112,768,337 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X110,869,083 - 111,225,229 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X37,316,545 - 37,485,511 (+)NCBIRGSC3.4rn4RGSC3.4
CeleraX104,184,917 - 104,528,021 (-)NCBICelera
Cytogenetic MapXq33NCBI
Col4a6
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554907,409,160 - 7,762,929 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554907,409,687 - 7,764,300 (+)NCBIChiLan1.0ChiLan1.0
COL4A6
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X107,612,289 - 107,909,373 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX107,625,718 - 107,908,363 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X97,254,306 - 97,539,473 (-)NCBIMhudiblu_PPA_v0panPan3
COL4A6
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X81,690,047 - 81,981,005 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX81,691,417 - 81,980,703 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX67,810,622 - 68,101,637 (-)NCBI
ROS_Cfam_1.0X83,339,380 - 83,630,482 (-)NCBI
UMICH_Zoey_3.1X80,798,389 - 81,089,594 (-)NCBI
UNSW_CanFamBas_1.0X82,510,974 - 82,802,154 (-)NCBI
UU_Cfam_GSD_1.0X82,301,801 - 82,589,247 (-)NCBI
Col4a6
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X81,017,535 - 81,295,934 (-)NCBI
SpeTri2.0NW_0049364996,421,930 - 6,640,429 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
COL4A6
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX88,634,925 - 88,957,402 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X88,634,925 - 88,750,938 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X103,072,846 - 103,136,037 (-)NCBISscrofa10.2Sscrofa10.2susScr3
COL4A6
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X96,012,442 - 96,307,911 (-)NCBI
Col4a6
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248037,917,668 - 8,335,274 (+)NCBI

Position Markers
DXS6797  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X107,481,065 - 107,481,333UniSTSGRCh37
Build 36X107,367,721 - 107,367,989RGDNCBI36
CeleraX107,952,522 - 107,952,786RGD
Cytogenetic MapXq22UniSTS
HuRefX97,103,068 - 97,103,328UniSTS
Marshfield Genetic MapX67.12UniSTS
Marshfield Genetic MapX67.12RGD
deCODE Assembly MapX104.57UniSTS
Whitehead-RH MapX269.8UniSTS
NCBI RH MapX561.2UniSTS
DXS8216  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X107,639,465 - 107,639,554UniSTSGRCh37
Build 36X107,526,121 - 107,526,210RGDNCBI36
CeleraX108,110,915 - 108,111,004RGD
Cytogenetic MapXq22UniSTS
HuRefX97,261,372 - 97,261,461UniSTS
AL022444  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X107,557,544 - 107,557,708UniSTSGRCh37
Build 36X107,444,200 - 107,444,364RGDNCBI36
CeleraX108,028,991 - 108,029,155RGD
Cytogenetic MapXq22UniSTS
HuRefX97,178,649 - 97,178,813UniSTS
DXS7494  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X107,399,682 - 107,400,022UniSTSGRCh37
Build 36X107,286,338 - 107,286,678RGDNCBI36
CeleraX107,871,149 - 107,871,489RGD
Cytogenetic MapXq22UniSTS
HuRefX97,022,112 - 97,022,452UniSTS
GeneMap99-GB4 RH MapX293.01UniSTS
Whitehead-RH MapX269.8UniSTS
NCBI RH MapX561.2UniSTS
AL035141  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X107,652,851 - 107,652,995UniSTSGRCh37
Build 36X107,539,507 - 107,539,651RGDNCBI36
CeleraX108,124,284 - 108,124,428RGD
Cytogenetic MapXq22UniSTS
HuRefX97,275,009 - 97,275,153UniSTS
DXS7884  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X107,570,880 - 107,570,971UniSTSGRCh37
Build 36X107,457,536 - 107,457,627RGDNCBI36
CeleraX108,042,327 - 108,042,418RGD
Cytogenetic MapXq22UniSTS
HuRefX97,192,162 - 97,192,253UniSTS
GDB:600958  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X107,683,214 - 107,683,365UniSTSGRCh37
Build 36X107,569,870 - 107,570,021RGDNCBI36
CeleraX108,154,645 - 108,154,796RGD
Cytogenetic MapXq22UniSTS
HuRefX97,305,122 - 97,305,273UniSTS
DXS7820  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X107,489,019 - 107,489,090UniSTSGRCh37
Build 36X107,375,675 - 107,375,746RGDNCBI36
CeleraX107,960,471 - 107,960,542RGD
Cytogenetic MapXq22UniSTS
HuRefX97,110,960 - 97,111,031UniSTS
DXS7885  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X107,601,914 - 107,602,025UniSTSGRCh37
Build 36X107,488,570 - 107,488,681RGDNCBI36
CeleraX108,073,358 - 108,073,469RGD
Cytogenetic MapXq22UniSTS
HuRefX97,223,214 - 97,223,325UniSTS
COL4A6  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X107,682,614 - 107,682,692UniSTSGRCh37
Build 36X107,569,270 - 107,569,348RGDNCBI36
CeleraX108,154,045 - 108,154,123RGD
Cytogenetic MapXq22UniSTS
HuRefX97,304,522 - 97,304,600UniSTS
DXS7789  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X107,400,042 - 107,400,119UniSTSGRCh37
Build 36X107,286,698 - 107,286,775RGDNCBI36
CeleraX107,871,509 - 107,871,586RGD
Cytogenetic MapXq22UniSTS
HuRefX97,022,472 - 97,022,549UniSTS
DXS7883  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X107,513,293 - 107,513,419UniSTSGRCh37
Build 36X107,399,949 - 107,400,075RGDNCBI36
CeleraX107,984,743 - 107,984,869RGD
Cytogenetic MapXq22UniSTS
HuRefX97,135,080 - 97,135,206UniSTS
UniSTS:99664  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X107,570,899 - 107,570,965UniSTSGRCh37
Build 36X107,457,555 - 107,457,621RGDNCBI36
CeleraX108,042,346 - 108,042,412RGD
HuRefX97,192,181 - 97,192,247UniSTS
DXS571  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X107,543,921 - 107,544,052UniSTSGRCh37
GRCh37X107,543,546 - 107,543,677UniSTSGRCh37
Build 36X107,430,202 - 107,430,333RGDNCBI36
CeleraX108,014,993 - 108,015,124RGD
CeleraX108,015,368 - 108,015,499UniSTS
Cytogenetic MapXq22UniSTS
HuRefX97,165,199 - 97,165,326UniSTS
HuRefX97,164,824 - 97,164,955UniSTS
GDB:642198  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X107,423,618 - 107,423,732UniSTSGRCh37
Build 36X107,310,274 - 107,310,388RGDNCBI36
CeleraX107,895,086 - 107,895,198RGD
Cytogenetic MapXq22UniSTS
HuRefX97,045,640 - 97,045,750UniSTS
GDB:642212  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X107,416,644 - 107,416,813UniSTSGRCh37
Build 36X107,303,300 - 107,303,469RGDNCBI36
CeleraX107,888,111 - 107,888,280RGD
Cytogenetic MapXq22UniSTS
HuRefX97,038,672 - 97,038,833UniSTS
DXS8343  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X107,673,374 - 107,673,623UniSTSGRCh37
Build 36X107,560,030 - 107,560,279RGDNCBI36
CeleraX108,144,805 - 108,145,054RGD
Cytogenetic MapXq22UniSTS
HuRefX97,295,282 - 97,295,531UniSTS
Whitehead-RH MapX269.0UniSTS
NCBI RH MapX561.2UniSTS
BKT4  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X107,581,217 - 107,581,502UniSTSGRCh37
Build 36X107,467,873 - 107,468,158RGDNCBI36
CeleraX108,052,664 - 108,052,949RGD
Cytogenetic MapXq22UniSTS
HuRefX97,202,749 - 97,203,034UniSTS
COL4A6_546  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X107,398,793 - 107,399,662UniSTSGRCh37
Build 36X107,285,449 - 107,286,318RGDNCBI36
CeleraX107,870,260 - 107,871,129RGD
HuRefX97,021,223 - 97,022,092UniSTS
WI-18796  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X107,399,941 - 107,400,068UniSTSGRCh37
Build 36X107,286,597 - 107,286,724RGDNCBI36
CeleraX107,871,408 - 107,871,535RGD
Cytogenetic MapXq22UniSTS
HuRefX97,022,371 - 97,022,498UniSTS
GeneMap99-GB4 RH MapX283.24UniSTS
Whitehead-RH MapX267.4UniSTS
NCBI RH MapX561.2UniSTS
DXS571  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXq22UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5501
Count of miRNA genes:1072
Interacting mature miRNAs:1306
Transcripts:ENST00000334504, ENST00000372216, ENST00000394872, ENST00000418180, ENST00000461897, ENST00000468338, ENST00000477085, ENST00000487645, ENST00000538570, ENST00000545689
Prediction methods:Microtar, Miranda, Pita, 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 visual system adipose tissue appendage entire extraembryonic component
High
Medium 1025 595 138 5 12 6 926 874 156 66 644 67 6 68 606
Low 971 1548 920 188 404 31 3080 1029 998 180 712 1300 162 1083 1941 1
Below cutoff 358 744 575 348 998 345 301 268 2528 113 81 189 4 1 53 241 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001287758 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001287759 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001287760 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001847 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_033641 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006724617 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530852 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530853 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530854 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001755650 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AH003699 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300502 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL031177 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL034369 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL109943 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW082083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000874 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC005305 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC070203 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC140855 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC144669 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF726518 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG680578 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ331638 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT007228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA396616 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA489342 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB050016 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN313332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN313341 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN313343 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN313347 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN313351 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CX872164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D21337 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D28116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D63562 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA748513 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB260304 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU182215 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L22763 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U04845 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000334504   ⟹   ENSP00000334733
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX108,155,614 - 108,438,422 (-)Ensembl
RefSeq Acc Id: ENST00000372216   ⟹   ENSP00000361290
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX108,155,607 - 108,439,472 (-)Ensembl
RefSeq Acc Id: ENST00000394872   ⟹   ENSP00000378340
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX108,155,608 - 108,438,430 (-)Ensembl
RefSeq Acc Id: ENST00000461897
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX108,267,642 - 108,438,430 (-)Ensembl
RefSeq Acc Id: ENST00000468338
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX108,213,792 - 108,439,472 (-)Ensembl
RefSeq Acc Id: ENST00000477085
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX108,267,642 - 108,439,497 (-)Ensembl
RefSeq Acc Id: ENST00000487645
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX108,161,631 - 108,163,598 (-)Ensembl
RefSeq Acc Id: ENST00000538570   ⟹   ENSP00000445236
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX108,155,608 - 108,438,430 (-)Ensembl
RefSeq Acc Id: ENST00000545689   ⟹   ENSP00000443707
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX108,155,891 - 108,438,430 (-)Ensembl
RefSeq Acc Id: ENST00000621266   ⟹   ENSP00000482970
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX108,155,608 - 108,438,430 (-)Ensembl
RefSeq Acc Id: NM_001287758   ⟹   NP_001274687
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X108,155,614 - 108,438,422 (-)NCBI
HuRefX97,021,267 - 97,304,635 (-)NCBI
CHM1_1X107,309,670 - 107,592,486 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001287759   ⟹   NP_001274688
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X108,155,614 - 108,438,422 (-)NCBI
HuRefX97,021,267 - 97,304,635 (-)NCBI
CHM1_1X107,309,670 - 107,592,486 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001287760   ⟹   NP_001274689
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X108,155,614 - 108,438,422 (-)NCBI
HuRefX97,021,267 - 97,304,635 (-)NCBI
CHM1_1X107,309,670 - 107,592,486 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001847   ⟹   NP_001838
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X108,155,614 - 108,439,458 (-)NCBI
GRCh37X107,398,837 - 107,682,704 (-)ENTREZGENE
GRCh37X107,398,837 - 107,682,704 (-)NCBI
Build 36X107,285,493 - 107,569,360 (-)NCBI Archive
HuRefX97,021,267 - 97,304,635 (-)NCBI
CHM1_1X107,309,670 - 107,593,553 (-)NCBI
Sequence:
RefSeq Acc Id: NM_033641   ⟹   NP_378667
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X108,155,614 - 108,438,422 (-)NCBI
GRCh37X107,398,837 - 107,682,704 (-)ENTREZGENE
GRCh37X107,398,837 - 107,682,704 (-)NCBI
Build 36X107,285,493 - 107,568,314 (-)NCBI Archive
HuRefX97,021,267 - 97,304,635 (-)NCBI
CHM1_1X107,309,670 - 107,592,486 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006724617   ⟹   XP_006724680
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X108,155,607 - 108,439,491 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011530852   ⟹   XP_011529154
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X108,156,392 - 108,439,491 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011530853   ⟹   XP_011529155
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X108,156,392 - 108,222,854 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011530854   ⟹   XP_011529156
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X108,166,254 - 108,439,492 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001755650
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X108,175,117 - 108,439,493 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001838   ⟸   NM_001847
- Peptide Label: isoform A precursor
- UniProtKB: Q14031 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_378667   ⟸   NM_033641
- Peptide Label: isoform B precursor
- UniProtKB: Q14031 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001274689   ⟸   NM_001287760
- Peptide Label: isoform 5 precursor
- UniProtKB: Q14031 (UniProtKB/Swiss-Prot),   B2RTX6 (UniProtKB/TrEMBL),   F5H3Q5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001274688   ⟸   NM_001287759
- Peptide Label: isoform 4 precursor
- UniProtKB: A0A087WZY5 (UniProtKB/TrEMBL),   A8VPY0 (UniProtKB/TrEMBL),   B7ZMM7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001274687   ⟸   NM_001287758
- Peptide Label: isoform 3 precursor
- UniProtKB: A8MXH5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006724680   ⟸   XM_006724617
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011529154   ⟸   XM_011530852
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011529155   ⟸   XM_011530853
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011529156   ⟸   XM_011530854
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: ENSP00000482970   ⟸   ENST00000621266
RefSeq Acc Id: ENSP00000361290   ⟸   ENST00000372216
RefSeq Acc Id: ENSP00000334733   ⟸   ENST00000334504
RefSeq Acc Id: ENSP00000443707   ⟸   ENST00000545689
RefSeq Acc Id: ENSP00000445236   ⟸   ENST00000538570
RefSeq Acc Id: ENSP00000378340   ⟸   ENST00000394872
Protein Domains
Collagen IV NC1

Promoters
RGD ID:6808584
Promoter ID:HG_KWN:67728
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:ENST00000394872,   OTTHUMT00000057876,   OTTHUMT00000315783,   UC010NPK.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X107,568,101 - 107,568,601 (-)MPROMDB
RGD ID:6808581
Promoter ID:HG_KWN:67729
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562
Transcripts:ENST00000328300,   ENST00000356851,   NM_001847,   NM_033380,   NM_033381,   OTTHUMT00000057877,   OTTHUMT00000057880,   OTTHUMT00000315784,   OTTHUMT00000315786,   OTTHUMT00000315787
Position:
Human AssemblyChrPosition (strand)Source
Build 36X107,569,664 - 107,570,164 (-)MPROMDB
RGD ID:13627840
Promoter ID:EPDNEW_H29195
Type:initiation region
Name:COL4A6_1
Description:collagen type IV alpha 6 chain
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29196  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X108,438,422 - 108,438,482EPDNEW
RGD ID:13627842
Promoter ID:EPDNEW_H29196
Type:initiation region
Name:COL4A6_2
Description:collagen type IV alpha 6 chain
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29195  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X108,439,458 - 108,439,518EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_033641.4(COL4A6):c.1768G>A (p.Gly590Ser) single nucleotide variant Deafness, X-linked 6 [RCV000088659] ChrX:108187279 [GRCh38]
ChrX:107430509 [GRCh37]
ChrX:Xq22.3
pathogenic
NM_033641.4(COL4A6):c.528T>G (p.Pro176=) single nucleotide variant not provided [RCV000840089]|not specified [RCV000727883] ChrX:108209987 [GRCh38]
ChrX:107453217 [GRCh37]
ChrX:Xq22.3
benign|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
NM_033641.4(COL4A6):c.4359C>T (p.Phe1453=) single nucleotide variant not provided [RCV000951227]|not specified [RCV000593988] ChrX:108160629 [GRCh38]
ChrX:107403859 [GRCh37]
ChrX:Xq22.3
likely benign
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq22.3(chrX:108318888-108778027)x2 copy number gain See cases [RCV000050837] ChrX:108318888..108778027 [GRCh38]
ChrX:107562118..108021257 [GRCh37]
ChrX:107448774..107907913 [NCBI36]
ChrX:Xq22.3
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1 copy number loss See cases [RCV000051713] ChrX:100524562..155669954 [GRCh38]
ChrX:99779559..154785891 [GRCh37]
ChrX:99666215..154552809 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xq21.1-23(chrX:77544283-110500317)x1 copy number loss See cases [RCV000051668] ChrX:77544283..110500317 [GRCh38]
ChrX:76799762..109743545 [GRCh37]
ChrX:76686418..109630201 [NCBI36]
ChrX:Xq21.1-23
pathogenic
GRCh38/hg38 Xq22.1-22.3(chrX:102070552-108264804)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051716]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051716]|See cases [RCV000051716] ChrX:102070552..108264804 [GRCh38]
ChrX:101325524..107508034 [GRCh37]
ChrX:101212180..107394690 [NCBI36]
ChrX:Xq22.1-22.3
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-27.1(chrX:73008114-140201321)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|See cases [RCV000052418] ChrX:73008114..140201321 [GRCh38]
ChrX:72227953..139283477 [GRCh37]
ChrX:72144678..139111143 [NCBI36]
ChrX:Xq13.2-27.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-25(chrX:81261589-126519353)x3 copy number gain See cases [RCV000052438] ChrX:81261589..126519353 [GRCh38]
ChrX:80517088..125653336 [GRCh37]
ChrX:80403744..125481017 [NCBI36]
ChrX:Xq21.1-25
pathogenic
GRCh38/hg38 Xq22.3(chrX:107523862-108265579)x3 copy number gain See cases [RCV000052443] ChrX:107523862..108265579 [GRCh38]
ChrX:106767092..107508809 [GRCh37]
ChrX:106653748..107395465 [NCBI36]
ChrX:Xq22.3
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001847.3(COL4A6):c.1793C>T (p.Pro598Leu) single nucleotide variant Malignant melanoma [RCV000073032] ChrX:108187257 [GRCh38]
ChrX:107430487 [GRCh37]
ChrX:107317143 [NCBI36]
ChrX:Xq22.3
not provided
NM_033641.4(COL4A6):c.5071T>G (p.Ter1691Glu) single nucleotide variant not provided [RCV000171443] ChrX:108157002 [GRCh38]
ChrX:107400232 [GRCh37]
ChrX:Xq22.3
likely pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_000495.5(COL4A5):c.(?_-202)_(81_?)del deletion Alport syndrome 1, X-linked recessive [RCV000021086] ChrX:108437941..108440207 [GRCh38]
ChrX:Xq22.3
pathogenic
NM_033380.3(COL4A5):c.(?_1)_(81+1_82_1)del (p.?) deletion Alport syndrome 1, X-linked recessive [RCV000021087] ChrX:108310747..108440206 [GRCh38]
ChrX:Xq22.3
pathogenic
NM_000495.5(COL4A5):c.(?_-202)_(81_?)del deletion Alport syndrome 1, X-linked recessive [RCV000021089] ChrX:108437941..108440207 [GRCh38]
ChrX:Xq22.3
pathogenic
NM_000495.5(COL4A5):c.(?_-202)_(81_?)del deletion Alport syndrome 1, X-linked recessive [RCV000021090] ChrX:108438186..108440206 [GRCh38]
ChrX:Xq22.3
pathogenic
NM_000495.5(COL4A5):c.(?_-202)_(81_?)del deletion Alport syndrome 1, X-linked recessive [RCV000021091] ChrX:108437941..108440207 [GRCh38]
ChrX:Xq22.3
pathogenic
NM_000495.3(COL4A5):c.1-?_5058+?del deletion Alport syndrome 1, X-linked recessive [RCV000032046]|Alport syndrome, X-linked recessive [RCV000032046] ChrX:108438186..108696378 [GRCh38]
ChrX:107681416..107939608 [GRCh37]
ChrX:Xq22.3
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:85123740-156022206)x3 copy number gain See cases [RCV000133744] ChrX:85123740..156022206 [GRCh38]
ChrX:84378746..155251871 [GRCh37]
ChrX:84265402..154905065 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1 copy number loss See cases [RCV000134570] ChrX:78605009..156016560 [GRCh38]
ChrX:77860506..155246225 [GRCh37]
ChrX:77747162..154899419 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1 copy number loss See cases [RCV000135307] ChrX:92222680..156016920 [GRCh38]
ChrX:91477679..155246585 [GRCh37]
ChrX:91364335..154899779 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 copy number loss See cases [RCV000134958] ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1 copy number loss See cases [RCV000135454] ChrX:77369933..156013167 [GRCh38]
ChrX:76634813..155242832 [GRCh37]
ChrX:76507069..154896026 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.33-28(chrX:94462929-156001635)x3 copy number gain See cases [RCV000136552] ChrX:94462929..156001635 [GRCh38]
ChrX:93717928..155231300 [GRCh37]
ChrX:93604584..154884494 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq22.1-23(chrX:100597687-111651116)x4 copy number gain See cases [RCV000136029] ChrX:100597687..111651116 [GRCh38]
ChrX:99852684..110894344 [GRCh37]
ChrX:99739340..110781000 [NCBI36]
ChrX:Xq22.1-23
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1 copy number loss See cases [RCV000136083] ChrX:79093152..156003229 [GRCh38]
ChrX:78348649..155232894 [GRCh37]
ChrX:78235305..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1 copy number loss See cases [RCV000137113] ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:102197284-156003242)x1 copy number loss See cases [RCV000137415] ChrX:102197284..156003242 [GRCh38]
ChrX:101452257..155232907 [GRCh37]
ChrX:101338913..154886101 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 copy number loss See cases [RCV000137138] ChrX:76604011..156022206 [GRCh38]
ChrX:75824420..155251871 [GRCh37]
ChrX:75740824..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 copy number gain See cases [RCV000138020] ChrX:95846285..156003242 [GRCh38]
ChrX:95101284..155232907 [GRCh37]
ChrX:94987940..154886101 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1 copy number loss See cases [RCV000137887] ChrX:106127173..156003242 [GRCh38]
ChrX:105371166..155232907 [GRCh37]
ChrX:105257822..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1 copy number loss See cases [RCV000138787] ChrX:79911061..156003229 [GRCh38]
ChrX:79166568..155232894 [GRCh37]
ChrX:79053224..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106465610-156003242)x1 copy number loss See cases [RCV000138541] ChrX:106465610..156003242 [GRCh38]
ChrX:105708840..155232907 [GRCh37]
ChrX:105595496..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:88339926-156003242)x1 copy number loss See cases [RCV000139351] ChrX:88339926..156003242 [GRCh38]
ChrX:87594927..155232907 [GRCh37]
ChrX:87481583..154886101 [NCBI36]
ChrX:Xq21.31-28
pathogenic|likely benign
GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1 copy number loss See cases [RCV000139400] ChrX:82211310..156003229 [GRCh38]
ChrX:81466759..155232894 [GRCh37]
ChrX:81353415..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic|likely benign
GRCh38/hg38 Xq21.32-23(chrX:93591590-112530092)x3 copy number gain See cases [RCV000139204] ChrX:93591590..112530092 [GRCh38]
ChrX:92846589..111773320 [GRCh37]
ChrX:92733245..111659976 [NCBI36]
ChrX:Xq21.32-23
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xq21.1-28(chrX:82096719-156004066)x1 copy number loss See cases [RCV000141825] ChrX:82096719..156004066 [GRCh38]
ChrX:81352168..155233731 [GRCh37]
ChrX:81238824..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1 copy number loss See cases [RCV000142016] ChrX:89557622..156004066 [GRCh38]
ChrX:88812621..155233731 [GRCh37]
ChrX:88699277..154886925 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq22.3(chrX:108213060-108266828)x2 copy number gain See cases [RCV000141671] ChrX:108213060..108266828 [GRCh38]
ChrX:107456290..107510058 [GRCh37]
ChrX:107342946..107396714 [NCBI36]
ChrX:Xq22.3
uncertain significance
GRCh38/hg38 Xp11.22-q24(chrX:50289384-119297604) copy number loss See cases [RCV000141742] ChrX:50289384..119297604 [GRCh38]
ChrX:50032384..118431567 [GRCh37]
ChrX:50049124..118315595 [NCBI36]
ChrX:Xp11.22-q24
pathogenic
GRCh38/hg38 Xq21.1-23(chrX:81109470-109442793)x1 copy number loss See cases [RCV000142372] ChrX:81109470..109442793 [GRCh38]
ChrX:80364969..108686022 [GRCh37]
ChrX:80251625..108572678 [NCBI36]
ChrX:Xq21.1-23
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 copy number loss See cases [RCV000142337] ChrX:78187188..156004066 [GRCh38]
ChrX:77442685..155233731 [GRCh37]
ChrX:77329341..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1 copy number loss See cases [RCV000142037] ChrX:86626431..156004066 [GRCh38]
ChrX:85881434..155233731 [GRCh37]
ChrX:85768090..154886925 [NCBI36]
ChrX:Xq21.2-28
pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106722296-156004066)x1 copy number loss See cases [RCV000142190] ChrX:106722296..156004066 [GRCh38]
ChrX:105965526..155233731 [GRCh37]
ChrX:105852182..154886925 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1 copy number loss See cases [RCV000143424] ChrX:74684615..156004066 [GRCh38]
ChrX:73904450..155233731 [GRCh37]
ChrX:73821175..154886925 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1 copy number loss See cases [RCV000143132] ChrX:76557425..156004066 [GRCh38]
ChrX:75777833..155233731 [GRCh37]
ChrX:75694237..154886925 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_033641.4(COL4A6):c.2653G>T (p.Val885Phe) single nucleotide variant not provided [RCV000513838]|not specified [RCV000609150] ChrX:108176874 [GRCh38]
ChrX:107420104 [GRCh37]
ChrX:Xq22.3
likely benign|uncertain significance
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xq22.1-24(chrX:99931059-120328627)x1 copy number loss Premature ovarian failure [RCV000225336] ChrX:99931059..120328627 [GRCh37]
ChrX:Xq22.1-24
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_033641.4(COL4A6):c.3373C>T (p.Pro1125Ser) single nucleotide variant not provided [RCV000710883]|not specified [RCV000243818] ChrX:108170822 [GRCh38]
ChrX:107414052 [GRCh37]
ChrX:Xq22.3
benign
NM_033641.4(COL4A6):c.1360T>C (p.Ser454Pro) single nucleotide variant not specified [RCV000241556] ChrX:108190458 [GRCh38]
ChrX:107433688 [GRCh37]
ChrX:Xq22.3
benign
NM_033641.4(COL4A6):c.2132-6G>A single nucleotide variant not provided [RCV000945369]|not specified [RCV000246547] ChrX:108179444 [GRCh38]
ChrX:107422674 [GRCh37]
ChrX:Xq22.3
benign|likely benign
NM_033641.4(COL4A6):c.3760G>T (p.Ala1254Ser) single nucleotide variant not provided [RCV000844489]|not specified [RCV000244251] ChrX:108165418 [GRCh38]
ChrX:107408648 [GRCh37]
ChrX:Xq22.3
benign|likely benign
NM_033641.4(COL4A6):c.3855G>A (p.Ser1285=) single nucleotide variant not provided [RCV000710884]|not specified [RCV000249223] ChrX:108164992 [GRCh38]
ChrX:107408222 [GRCh37]
ChrX:Xq22.3
benign
NM_033641.4(COL4A6):c.2808T>C (p.Arg936=) single nucleotide variant not specified [RCV000241857] ChrX:108175676 [GRCh38]
ChrX:107418906 [GRCh37]
ChrX:Xq22.3
benign
NM_033641.4(COL4A6):c.3078C>T (p.Gly1026=) single nucleotide variant not specified [RCV000246852] ChrX:108174500 [GRCh38]
ChrX:107417730 [GRCh37]
ChrX:Xq22.3
benign
NM_033641.4(COL4A6):c.3139-4G>A single nucleotide variant not provided [RCV000878001]|not specified [RCV000251806] ChrX:108172536 [GRCh38]
ChrX:107415766 [GRCh37]
ChrX:Xq22.3
benign
NM_033641.4(COL4A6):c.4082T>C (p.Leu1361Pro) single nucleotide variant not provided [RCV000710885]|not specified [RCV000254199] ChrX:108163026 [GRCh38]
ChrX:107406256 [GRCh37]
ChrX:Xq22.3
benign
NM_033641.4(COL4A6):c.4525+14C>G single nucleotide variant not specified [RCV000244565] ChrX:108160449 [GRCh38]
ChrX:107403679 [GRCh37]
ChrX:Xq22.3
likely benign
NM_033641.4(COL4A6):c.4812+8C>T single nucleotide variant not specified [RCV000249514] ChrX:108159454 [GRCh38]
ChrX:107402684 [GRCh37]
ChrX:Xq22.3
benign
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28
pathogenic
NM_033641.4(COL4A6):c.3402C>T (p.Ala1134=) single nucleotide variant not provided [RCV000991641]|not specified [RCV000247164] ChrX:108170700 [GRCh38]
ChrX:107413930 [GRCh37]
ChrX:Xq22.3
benign
NM_033641.4(COL4A6):c.604T>C (p.Leu202=) single nucleotide variant not specified [RCV000254509] ChrX:108206523 [GRCh38]
ChrX:107449753 [GRCh37]
ChrX:Xq22.3
likely benign
NM_033641.4(COL4A6):c.3481A>G (p.Ile1161Val) single nucleotide variant not provided [RCV000991642]|not specified [RCV000252271] ChrX:108170621 [GRCh38]
ChrX:107413851 [GRCh37]
ChrX:Xq22.3
benign
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_033641.4(COL4A6):c.2132-6G>T single nucleotide variant not specified [RCV000249887] ChrX:108179444 [GRCh38]
ChrX:107422674 [GRCh37]
ChrX:Xq22.3
likely benign
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
NM_033641.4(COL4A6):c.1379G>A (p.Arg460Gln) single nucleotide variant not provided [RCV000843137]|not specified [RCV000598408] ChrX:108190439 [GRCh38]
ChrX:107433669 [GRCh37]
ChrX:Xq22.3
benign
NM_033641.4(COL4A6):c.1379G>T (p.Arg460Leu) single nucleotide variant not provided [RCV000878602]|not specified [RCV000593599] ChrX:108190439 [GRCh38]
ChrX:107433669 [GRCh37]
ChrX:Xq22.3
likely benign
NM_033641.4(COL4A6):c.3537G>A (p.Pro1179=) single nucleotide variant not specified [RCV000730417] ChrX:108169973 [GRCh38]
ChrX:107413203 [GRCh37]
ChrX:Xq22.3
likely benign
NM_033641.4(COL4A6):c.2371G>A (p.Gly791Ser) single nucleotide variant not provided [RCV000585227] ChrX:108178828 [GRCh38]
ChrX:107422058 [GRCh37]
ChrX:Xq22.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_033641.4(COL4A6):c.2685G>T (p.Lys895Asn) single nucleotide variant not provided [RCV000730689] ChrX:108176842 [GRCh38]
ChrX:107420072 [GRCh37]
ChrX:Xq22.3
uncertain significance
NM_033641.4(COL4A6):c.726A>C (p.Pro242=) single nucleotide variant not provided [RCV000728742] ChrX:108204374 [GRCh38]
ChrX:107447604 [GRCh37]
ChrX:Xq22.3
uncertain significance
NM_033641.4(COL4A6):c.2671C>G (p.Leu891Val) single nucleotide variant not provided [RCV000595026] ChrX:108176856 [GRCh38]
ChrX:107420086 [GRCh37]
ChrX:Xq22.3
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94043221-155246585)x1 copy number loss See cases [RCV000449365] ChrX:94043221..155246585 [GRCh37]
ChrX:Xq21.33-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.33-26.1(chrX:95498487-129063677)x3 copy number gain See cases [RCV000446318] ChrX:95498487..129063677 [GRCh37]
ChrX:Xq21.33-26.1
pathogenic
GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3 copy number gain See cases [RCV000446471] ChrX:68701338..155233731 [GRCh37]
ChrX:Xq13.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1 copy number loss See cases [RCV000447490] ChrX:74787886..155233731 [GRCh37]
ChrX:Xq13.3-28
pathogenic
GRCh37/hg19 Xq22.3-23(chrX:107370001-110989043)x1 copy number loss See cases [RCV000447004] ChrX:107370001..110989043 [GRCh37]
ChrX:Xq22.3-23
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 copy number gain See cases [RCV000446151] ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:105694656-155224707)x1 copy number loss See cases [RCV000445891] ChrX:105694656..155224707 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.2-27.1(chrX:72224362-139262228)x4 copy number gain See cases [RCV000448394] ChrX:72224362..139262228 [GRCh37]
ChrX:Xq13.2-27.1
pathogenic
GRCh37/hg19 Xq22.2-23(chrX:103158718-111556067)x2 copy number gain See cases [RCV000448592] ChrX:103158718..111556067 [GRCh37]
ChrX:Xq22.2-23
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1 copy number loss See cases [RCV000448870] ChrX:55532799..150239235 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq21.31-23(chrX:86776682-114054291)x1 copy number loss See cases [RCV000511514] ChrX:86776682..114054291 [GRCh37]
ChrX:Xq21.31-23
pathogenic|uncertain significance
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1 copy number loss See cases [RCV000511482] ChrX:79862302..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1 copy number loss See cases [RCV000511490] ChrX:86900388..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1 copy number loss See cases [RCV000510820] ChrX:78230501..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq13.3-24(chrX:74560735-116609286) copy number loss See cases [RCV000510947] ChrX:74560735..116609286 [GRCh37]
ChrX:Xq13.3-24
pathogenic
NM_033641.4(COL4A6):c.323C>T (p.Pro108Leu) single nucleotide variant not provided [RCV000878041]|not specified [RCV000602745] ChrX:108219699 [GRCh38]
ChrX:107462929 [GRCh37]
ChrX:Xq22.3
benign
NM_033641.4(COL4A6):c.3970+3A>G single nucleotide variant not specified [RCV000600899] ChrX:108164874 [GRCh38]
ChrX:107408104 [GRCh37]
ChrX:Xq22.3
likely benign
NM_033641.4(COL4A6):c.1676G>A (p.Arg559Gln) single nucleotide variant not provided [RCV000945764]|not specified [RCV000602463] ChrX:108187939 [GRCh38]
ChrX:107431169 [GRCh37]
ChrX:Xq22.3
likely benign
NM_033641.4(COL4A6):c.2039G>A (p.Arg680Gln) single nucleotide variant not provided [RCV000950337]|not specified [RCV000609738] ChrX:108180607 [GRCh38]
ChrX:107423837 [GRCh37]
ChrX:Xq22.3
likely benign
NM_033641.4(COL4A6):c.303T>C (p.Phe101=) single nucleotide variant not provided [RCV000945328]|not specified [RCV000610017] ChrX:108219719 [GRCh38]
ChrX:107462949 [GRCh37]
ChrX:Xq22.3
benign
NM_033641.4(COL4A6):c.1125A>G (p.Glu375=) single nucleotide variant not provided [RCV000952201]|not specified [RCV000613734] ChrX:108192528 [GRCh38]
ChrX:107435758 [GRCh37]
ChrX:Xq22.3
benign|likely benign
NM_033641.4(COL4A6):c.2292C>T (p.Gly764=) single nucleotide variant not specified [RCV000601868] ChrX:108179278 [GRCh38]
ChrX:107422508 [GRCh37]
ChrX:Xq22.3
likely benign
GRCh37/hg19 Xq21.33-28(chrX:96499476-151870013)x3 copy number gain See cases [RCV000512365] ChrX:96499476..151870013 [GRCh37]
ChrX:Xq21.33-28
uncertain significance
GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1 copy number loss See cases [RCV000512372] ChrX:98495811..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
NM_033641.4(COL4A6):c.286A>T (p.Met96Leu) single nucleotide variant not provided [RCV000952202]|not specified [RCV000606713] ChrX:108219736 [GRCh38]
ChrX:107462966 [GRCh37]
ChrX:Xq22.3
benign|likely benign
NM_033641.4(COL4A6):c.4609C>T (p.Arg1537Cys) single nucleotide variant not specified [RCV000606054] ChrX:108159665 [GRCh38]
ChrX:107402895 [GRCh37]
ChrX:Xq22.3
likely benign
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1 copy number loss not provided [RCV000684357] ChrX:91140025..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1 copy number loss not provided [RCV000684363] ChrX:99324651..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
GRCh37/hg19 Xq22.3(chrX:107478209-108016039)x3 copy number gain not provided [RCV000684372] ChrX:107478209..108016039 [GRCh37]
ChrX:Xq22.3
uncertain significance
GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1 copy number loss not provided [RCV000846958] ChrX:104098124..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
NG_011977.1:g.1_264622del deletion Alport syndrome 1, X-linked recessive [RCV000735826] ChrX:108434924..108699545 [GRCh38]
ChrX:Xq22.3
likely pathogenic
NG_012059.2:g.1_302925del deletion Alport syndrome 1, X-linked recessive [RCV000735843] ChrX:108141550..108444474 [GRCh38]
ChrX:Xq22.3
likely pathogenic
GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1 copy number loss not provided [RCV000753606] ChrX:73472626..155254881 [GRCh37]
ChrX:Xq13.2-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28
pathogenic
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
NM_033641.4(COL4A6):c.3822C>T (p.Pro1274=) single nucleotide variant not provided [RCV000951197] ChrX:108165025 [GRCh38]
ChrX:107408255 [GRCh37]
ChrX:Xq22.3
likely benign
NM_033641.4(COL4A6):c.4482A>G (p.Leu1494=) single nucleotide variant not provided [RCV000946260] ChrX:108160506 [GRCh38]
ChrX:107403736 [GRCh37]
ChrX:Xq22.3
likely benign
NM_033641.4(COL4A6):c.4550G>A (p.Arg1517His) single nucleotide variant not provided [RCV000900102] ChrX:108159724 [GRCh38]
ChrX:107402954 [GRCh37]
ChrX:Xq22.3
likely benign
NM_033641.4(COL4A6):c.2888A>T (p.Asn963Ile) single nucleotide variant not provided [RCV000878468] ChrX:108175158 [GRCh38]
ChrX:107418388 [GRCh37]
ChrX:Xq22.3
benign
NC_000023.10:g.(?_107681416)_(107939608_?)del deletion Alport syndrome 1, X-linked recessive [RCV000032046] ChrX:107681416..107939608 [GRCh37]
ChrX:Xq22.3
pathogenic
NM_033641.4(COL4A6):c.672A>G (p.Gly224=) single nucleotide variant not provided [RCV000826979] ChrX:108205454 [GRCh38]
ChrX:107448684 [GRCh37]
ChrX:Xq22.3
benign
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_033641.4(COL4A6):c.2400C>A (p.Gly800=) single nucleotide variant not provided [RCV000945601] ChrX:108178799 [GRCh38]
ChrX:107422029 [GRCh37]
ChrX:Xq22.3
benign
NM_033641.4(COL4A6):c.4299T>A (p.Gly1433=) single nucleotide variant not provided [RCV000945852] ChrX:108161653 [GRCh38]
ChrX:107404883 [GRCh37]
ChrX:Xq22.3
benign
NM_033641.4(COL4A6):c.1654A>T (p.Ile552Phe) single nucleotide variant not provided [RCV000960658] ChrX:108187961 [GRCh38]
ChrX:107431191 [GRCh37]
ChrX:Xq22.3
benign
NM_033641.4(COL4A6):c.2811T>C (p.Ala937=) single nucleotide variant not provided [RCV000940471] ChrX:108175673 [GRCh38]
ChrX:107418903 [GRCh37]
ChrX:Xq22.3
benign
NM_033641.4(COL4A6):c.853_861GAAAAGGGA[2] (p.285_287EKG[2]) microsatellite not provided [RCV000951781] ChrX:108196535..108196543 [GRCh38]
ChrX:107439765..107439773 [GRCh37]
ChrX:Xq22.3
likely benign
NM_033641.4(COL4A6):c.1180+4dup duplication not provided [RCV000838007] ChrX:108192462..108192463 [GRCh38]
ChrX:107435692..107435693 [GRCh37]
ChrX:Xq22.3
benign
NM_033641.4(COL4A6):c.853_861GAAAAGGGA[4] (p.285_287EKG[4]) microsatellite not provided [RCV000840182] ChrX:108196534..108196535 [GRCh38]
ChrX:107439764..107439765 [GRCh37]
ChrX:Xq22.3
likely benign
NM_033641.4(COL4A6):c.280-77A>T single nucleotide variant not provided [RCV000843380] ChrX:108219819 [GRCh38]
ChrX:107463049 [GRCh37]
ChrX:Xq22.3
benign
NM_033641.4(COL4A6):c.1768-54G>A single nucleotide variant not provided [RCV000843381] ChrX:108187333 [GRCh38]
ChrX:107430563 [GRCh37]
ChrX:Xq22.3
benign
NM_033641.4(COL4A6):c.2024-32T>C single nucleotide variant not provided [RCV000843382] ChrX:108180654 [GRCh38]
ChrX:107423884 [GRCh37]
ChrX:Xq22.3
benign
NM_033641.4(COL4A6):c.444G>C (p.Gly148=) single nucleotide variant not provided [RCV000893079] ChrX:108211738 [GRCh38]
ChrX:107454968 [GRCh37]
ChrX:Xq22.3
likely benign
NM_033641.4(COL4A6):c.3886C>T (p.Pro1296Ser) single nucleotide variant not provided [RCV000826325] ChrX:108164961 [GRCh38]
ChrX:107408191 [GRCh37]
ChrX:Xq22.3
likely benign
NM_033641.4(COL4A6):c.3474C>T (p.Pro1158=) single nucleotide variant not provided [RCV000835281] ChrX:108170628 [GRCh38]
ChrX:107413858 [GRCh37]
ChrX:Xq22.3
benign
NM_033641.4(COL4A6):c.1305_1313dup (p.432_434GPP[4]) duplication not provided [RCV000991640] ChrX:108191400..108191401 [GRCh38]
ChrX:107434630..107434631 [GRCh37]
ChrX:Xq22.3
uncertain significance
NM_033641.4(COL4A6):c.432C>T (p.Leu144=) single nucleotide variant not provided [RCV000842363] ChrX:108214121 [GRCh38]
ChrX:107457351 [GRCh37]
ChrX:Xq22.3
benign
NM_033641.4(COL4A6):c.1431C>T (p.Asp477=) single nucleotide variant not provided [RCV000842364] ChrX:108188673 [GRCh38]
ChrX:107431903 [GRCh37]
ChrX:Xq22.3
benign
NM_033641.4(COL4A6):c.4333+22A>G single nucleotide variant not provided [RCV000842910] ChrX:108161597 [GRCh38]
ChrX:107404827 [GRCh37]
ChrX:Xq22.3
likely benign
NM_033641.4(COL4A6):c.4333+25C>G single nucleotide variant not provided [RCV000842911] ChrX:108161594 [GRCh38]
ChrX:107404824 [GRCh37]
ChrX:Xq22.3
likely benign
NM_033641.4(COL4A6):c.4333+29C>G single nucleotide variant not provided [RCV000842912] ChrX:108161590 [GRCh38]
ChrX:107404820 [GRCh37]
ChrX:Xq22.3
likely benign
NM_033641.4(COL4A6):c.4333+34C>G single nucleotide variant not provided [RCV000842942] ChrX:108161585 [GRCh38]
ChrX:107404815 [GRCh37]
ChrX:Xq22.3
benign
NM_033641.4(COL4A6):c.4217-77A>G single nucleotide variant not provided [RCV000842948] ChrX:108161812 [GRCh38]
ChrX:107405042 [GRCh37]
ChrX:Xq22.3
likely benign
NM_033641.4(COL4A6):c.688-43G>A single nucleotide variant not provided [RCV000843316] ChrX:108204455 [GRCh38]
ChrX:107447685 [GRCh37]
ChrX:Xq22.3
benign
NM_033641.4(COL4A6):c.2353+56G>A single nucleotide variant not provided [RCV000843383] ChrX:108179161 [GRCh38]
ChrX:107422391 [GRCh37]
ChrX:Xq22.3
likely benign
NM_033641.4(COL4A6):c.3138+64C>T single nucleotide variant not provided [RCV000843703] ChrX:108174376 [GRCh38]
ChrX:107417606 [GRCh37]
ChrX:Xq22.3
likely benign
NM_033641.4(COL4A6):c.2856C>T (p.Val952=) single nucleotide variant not provided [RCV000842416] ChrX:108175190 [GRCh38]
ChrX:107418420 [GRCh37]
ChrX:Xq22.3
likely benign
GRCh37/hg19 Xq22.3(chrX:107412411-107781697)x3 copy number gain not provided [RCV000847850] ChrX:107412411..107781697 [GRCh37]
ChrX:Xq22.3
uncertain significance
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 copy number loss not provided [RCV001007318] ChrX:78444738..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 copy number loss not provided [RCV001007322] ChrX:84387417..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1 copy number loss not provided [RCV000845672] ChrX:92814516..155233731 [GRCh37]
ChrX:Xq21.32-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_033641.4(COL4A6):c.181G>A (p.Gly61Ser) single nucleotide variant not provided [RCV000995997] ChrX:108221338 [GRCh38]
ChrX:107464568 [GRCh37]
ChrX:Xq22.3
likely benign|uncertain significance
NM_033641.4(COL4A6):c.765G>A (p.Gly255=) single nucleotide variant not provided [RCV000952216] ChrX:108204335 [GRCh38]
ChrX:107447565 [GRCh37]
ChrX:Xq22.3
benign
NM_033641.4(COL4A6):c.3192A>G (p.Pro1064=) single nucleotide variant not provided [RCV000887470] ChrX:108172479 [GRCh38]
ChrX:107415709 [GRCh37]
ChrX:Xq22.3
benign
NM_033641.4(COL4A6):c.1886G>A (p.Arg629His) single nucleotide variant not provided [RCV000951816] ChrX:108187161 [GRCh38]
ChrX:107430391 [GRCh37]
ChrX:Xq22.3
likely benign
GRCh37/hg19 Xq22.3-23(chrX:105973323-110619655)x1 copy number loss not provided [RCV001007332] ChrX:105973323..110619655 [GRCh37]
ChrX:Xq22.3-23
likely pathogenic
NM_033641.4(COL4A6):c.1118G>A (p.Gly373Glu) single nucleotide variant not specified [RCV001192866] ChrX:108192535 [GRCh38]
ChrX:107435765 [GRCh37]
ChrX:Xq22.3
uncertain significance
NC_000023.11:g.(?_107628619)_(108696388_?)del deletion not provided [RCV001032756] ChrX:106871849..107939618 [GRCh37]
ChrX:Xq22.3
pathogenic
GRCh37/hg19 Xq21.1-25(chrX:77514079-127770854)x1 copy number loss not provided [RCV001259005] ChrX:77514079..127770854 [GRCh37]
ChrX:Xq21.1-25
pathogenic
NM_033641.4(COL4A6):c.4642G>A (p.Ala1548Thr) single nucleotide variant Deafness, X-linked 6 [RCV001262702] ChrX:108159632 [GRCh38]
ChrX:107402862 [GRCh37]
ChrX:Xq22.3
likely benign
GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1 copy number loss not provided [RCV001259012] ChrX:94264404..155233731 [GRCh37]
ChrX:Xq21.33-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq22.3(chrX:106479615-107575960)x3 copy number gain not provided [RCV001259490] ChrX:106479615..107575960 [GRCh37]
ChrX:Xq22.3
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_033641.4(COL4A6):c.788_791dup (p.Pro265fs) duplication Deafness, X-linked 6 [RCV001334956] ChrX:108202970..108202971 [GRCh38]
ChrX:107446200..107446201 [GRCh37]
ChrX:Xq22.3
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2208 AgrOrtholog
COSMIC COL4A6 COSMIC
Ensembl Genes ENSG00000197565 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000334733 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000361290 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000378340 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000443707 UniProtKB/TrEMBL
  ENSP00000445236 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000482970 ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENST00000334504 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000372216 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000394872 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000538570 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000545689 UniProtKB/TrEMBL
  ENST00000621266 ENTREZGENE, UniProtKB/TrEMBL
Gene3D-CATH 2.170.240.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000197565 GTEx
HGNC ID HGNC:2208 ENTREZGENE
Human Proteome Map COL4A6 Human Proteome Map
InterPro Collagen UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Collagen_IV_NC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Collagen_IV_NC_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CTDL_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1288 UniProtKB/Swiss-Prot
NCBI Gene 1288 ENTREZGENE
OMIM 300194 OMIM
  300914 OMIM
  303631 OMIM
Pfam Collagen UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PF01413 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26723 PharmGKB
PROSITE NC1_IV UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SM00111 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF56436 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087WZY5 ENTREZGENE, UniProtKB/TrEMBL
  A8MXH5 ENTREZGENE, UniProtKB/TrEMBL
  A8VPY0 ENTREZGENE, UniProtKB/TrEMBL
  B2RTX6 ENTREZGENE, UniProtKB/TrEMBL
  B7ZMM7 ENTREZGENE, UniProtKB/TrEMBL
  CO4A6_HUMAN UniProtKB/Swiss-Prot
  F5H3Q5 ENTREZGENE, UniProtKB/TrEMBL
  F5H851_HUMAN UniProtKB/TrEMBL
  Q14031 ENTREZGENE
  Q6NSE8_HUMAN UniProtKB/TrEMBL
  Q9UEH6_HUMAN UniProtKB/TrEMBL
UniProt Secondary Q12823 UniProtKB/Swiss-Prot
  Q14053 UniProtKB/Swiss-Prot
  Q5JYH6 UniProtKB/Swiss-Prot
  Q5JYH8 UniProtKB/Swiss-Prot
  Q9NQM5 UniProtKB/Swiss-Prot
  Q9NTX3 UniProtKB/Swiss-Prot
  Q9UJ76 UniProtKB/Swiss-Prot
  Q9UMG6 UniProtKB/Swiss-Prot
  Q9Y4L4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-05-31 COL4A6  collagen type IV alpha 6 chain    collagen type IV alpha 6  Symbol and/or name change 5135510 APPROVED
2016-01-26 COL4A6  collagen type IV alpha 6    collagen, type IV, alpha 6  Symbol and/or name change 5135510 APPROVED
2011-08-16 COL4A6  collagen, type IV, alpha 6  COL4A6  collagen, type IV, alpha 6  Symbol and/or name change 5135510 APPROVED