AMMECR1 (AMMECR nuclear protein 1) - Rat Genome Database
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Gene: AMMECR1 (AMMECR nuclear protein 1) Homo sapiens
Analyze
Symbol: AMMECR1
Name: AMMECR nuclear protein 1
RGD ID: 1347096
HGNC Page HGNC
Description: Localizes to mitochondrion and nucleoplasm. Implicated in midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: Alport syndrome mental retardation midface hypoplasia and elliptocytosis chromosomal region protein 1; Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1; Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region,; AMME syndrome candidate gene 1 protein; AMMERC1; MFHIEN
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 EnsemblX110,194,186 - 110,440,233 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX110,194,186 - 110,440,318 (-)EnsemblGRCh38hg38GRCh38
GRCh38X110,194,186 - 110,440,233 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X109,437,414 - 109,683,461 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X109,324,070 - 109,448,036 (-)NCBINCBI36hg18NCBI36
Build 34X109,247,762 - 109,367,612NCBI
CeleraX109,917,037 - 110,163,085 (-)NCBI
Cytogenetic MapXq23NCBI
HuRefX99,058,022 - 99,303,793 (-)NCBIHuRef
CHM1_1X109,348,657 - 109,594,672 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
mitochondrion  (IDA)
nucleoplasm  (IDA)
nucleus  (IBA,IDA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal aortic valve morphology  (IAGP)
Abnormal hair morphology  (IAGP)
Abnormality of the metaphysis  (IAGP)
Anemia  (IAGP)
Anteverted nares  (IAGP)
Bifid uvula  (IAGP)
Broad distal phalanx of finger  (IAGP)
Broad forehead  (IAGP)
Cataract  (IAGP)
Cleft hard palate  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Conductive hearing impairment  (IAGP)
Delayed eruption of teeth  (IAGP)
Delayed speech and language development  (IAGP)
Dental crowding  (IAGP)
Depressed nasal bridge  (IAGP)
Downslanted palpebral fissures  (IAGP)
Elliptocytosis  (IAGP)
Esotropia  (IAGP)
Flat face  (IAGP)
Generalized hypotonia  (IAGP)
Glomerulopathy  (IAGP)
Hearing impairment  (IAGP)
Hypercalciuria  (IAGP)
Hypotonia  (IAGP)
Increased number of teeth  (IAGP)
Infantile onset  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, severe  (IAGP)
Joint hypermobility  (IAGP)
Large forehead  (IAGP)
Malar flattening  (IAGP)
Micrognathia  (IAGP)
Microscopic hematuria  (IAGP)
Midface retrusion  (IAGP)
Mixed hearing impairment  (IAGP)
Myopia  (IAGP)
Narrow mouth  (IAGP)
Nephrocalcinosis  (IAGP)
Overfolded helix  (IAGP)
Patent ductus arteriosus  (IAGP)
Patent foramen ovale  (IAGP)
Pes planus  (IAGP)
Polyhydramnios  (IAGP)
Proteinuria  (IAGP)
Renal dysplasia  (IAGP)
Renal insufficiency  (IAGP)
Schizophrenia  (IAGP)
Sensorineural hearing impairment  (IAGP)
Short femur  (IAGP)
Short neck  (IAGP)
Short stature  (IAGP)
Strabismus  (IAGP)
Submucous cleft hard palate  (IAGP)
Synophrys  (IAGP)
Talipes equinovarus  (IAGP)
Tapered finger  (IAGP)
Thick vermilion border  (IAGP)
Thin upper lip vermilion  (IAGP)
Thin vermilion border  (IAGP)
Wide intermamillary distance  (IAGP)
X-linked recessive inheritance  (IAGP)
References

Additional References at PubMed
PMID:9480748   PMID:10049589   PMID:12477932   PMID:14702039   PMID:15489334   PMID:15558565   PMID:15772651   PMID:16344560   PMID:17207965   PMID:19322201   PMID:19460752   PMID:21304492  
PMID:21873635   PMID:24646681   PMID:25416956   PMID:26186194   PMID:26871637   PMID:27811305   PMID:28089922   PMID:28514442   PMID:29193635   PMID:30463901   PMID:31515488   PMID:31519561  
PMID:32296183  


Genomics

Comparative Map Data
AMMECR1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX110,194,186 - 110,440,233 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX110,194,186 - 110,440,318 (-)EnsemblGRCh38hg38GRCh38
GRCh38X110,194,186 - 110,440,233 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X109,437,414 - 109,683,461 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X109,324,070 - 109,448,036 (-)NCBINCBI36hg18NCBI36
Build 34X109,247,762 - 109,367,612NCBI
CeleraX109,917,037 - 110,163,085 (-)NCBI
Cytogenetic MapXq23NCBI
HuRefX99,058,022 - 99,303,793 (-)NCBIHuRef
CHM1_1X109,348,657 - 109,594,672 (-)NCBICHM1_1
Ammecr1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X141,634,142 - 141,749,722 (-)NCBIGRCm39mm39
GRCm39 EnsemblX141,634,142 - 141,749,724 (-)Ensembl
GRCm38X142,851,146 - 142,966,726 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX142,851,146 - 142,966,728 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X139,288,017 - 139,401,271 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X138,099,842 - 138,213,096 (-)NCBImm8
CeleraX126,846,976 - 126,952,939 (-)NCBICelera
Cytogenetic MapXF2NCBI
Ammecr1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X106,465,982 - 106,571,382 (-)NCBI
Rnor_6.0 EnsemblX114,131,898 - 114,232,939 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X114,129,829 - 114,233,013 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X112,575,812 - 112,679,260 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X35,588,998 - 35,691,478 (+)NCBIRGSC3.4rn4RGSC3.4
CeleraX105,881,340 - 105,983,582 (-)NCBICelera
Cytogenetic MapXq33NCBI
Ammecr1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554905,538,415 - 5,658,097 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554905,538,445 - 5,657,959 (+)NCBIChiLan1.0ChiLan1.0
AMMECR1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X109,772,466 - 109,896,343 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX109,776,789 - 109,896,297 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X99,302,263 - 99,548,046 (-)NCBIMhudiblu_PPA_v0panPan3
AMMECR1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X83,401,728 - 83,517,565 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX83,406,049 - 83,517,498 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX69,478,231 - 69,710,017 (-)NCBI
ROS_Cfam_1.0X85,050,337 - 85,281,949 (-)NCBI
UMICH_Zoey_3.1X82,528,240 - 82,761,741 (-)NCBI
UNSW_CanFamBas_1.0X84,223,700 - 84,456,433 (-)NCBI
UU_Cfam_GSD_1.0X84,052,337 - 84,284,556 (-)NCBI
Ammecr1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X82,634,710 - 82,747,277 (-)NCBI
SpeTri2.0NW_0049364994,910,687 - 5,023,252 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
AMMECR1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX90,307,187 - 90,420,168 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X90,304,918 - 90,420,207 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X103,860,304 - 103,975,612 (-)NCBISscrofa10.2Sscrofa10.2susScr3
AMMECR1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X98,030,337 - 98,163,146 (-)NCBI
Ammecr1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248035,596,475 - 5,727,889 (+)NCBI

Position Markers
RH46895  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X109,582,346 - 109,582,487UniSTSGRCh37
Build 36X109,469,002 - 109,469,143RGDNCBI36
CeleraX110,061,969 - 110,062,110RGD
Cytogenetic MapXq22.3UniSTS
HuRefX99,202,642 - 99,202,783UniSTS
GeneMap99-GB4 RH MapX292.97UniSTS
NCBI RH MapX561.2UniSTS
RH80484  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X109,582,368 - 109,582,575UniSTSGRCh37
Build 36X109,469,024 - 109,469,231RGDNCBI36
CeleraX110,061,991 - 110,062,198RGD
Cytogenetic MapXq22.3UniSTS
HuRefX99,202,664 - 99,202,871UniSTS
GeneMap99-GB4 RH MapX292.97UniSTS
RH80450  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X109,497,199 - 109,497,363UniSTSGRCh37
GRCh37543,289,520 - 43,289,684UniSTSGRCh37
Build 36X109,383,855 - 109,384,019RGDNCBI36
CeleraX109,976,822 - 109,976,986RGD
Celera543,180,457 - 43,180,621UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map5p14-p13UniSTS
HuRefX99,116,852 - 99,117,016UniSTS
HuRef543,239,948 - 43,240,112UniSTS
AL032569  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X109,626,235 - 109,626,416UniSTSGRCh37
Build 36X109,512,891 - 109,513,072RGDNCBI36
CeleraX110,105,859 - 110,106,040RGD
Cytogenetic MapXq22.3UniSTS
HuRefX99,246,890 - 99,247,071UniSTS
G42344  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X109,582,266 - 109,582,429UniSTSGRCh37
Build 36X109,468,922 - 109,469,085RGDNCBI36
CeleraX110,061,889 - 110,062,052RGD
Cytogenetic MapXq22.3UniSTS
HuRefX99,202,562 - 99,202,725UniSTS
G65693  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X109,582,316 - 109,582,573UniSTSGRCh37
Build 36X109,468,972 - 109,469,229RGDNCBI36
CeleraX110,061,939 - 110,062,196RGD
Cytogenetic MapXq22.3UniSTS
HuRefX99,202,612 - 99,202,869UniSTS
DXS7733  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X109,606,950 - 109,607,053UniSTSGRCh37
Build 36X109,493,606 - 109,493,709RGDNCBI36
CeleraX110,086,574 - 110,086,677RGD
Cytogenetic MapXq22.3UniSTS
HuRefX99,227,802 - 99,227,905UniSTS
DXS7531  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X109,643,975 - 109,644,254UniSTSGRCh37
Build 36X109,530,631 - 109,530,910RGDNCBI36
CeleraX110,123,599 - 110,123,878RGD
Cytogenetic MapXq22.3UniSTS
HuRefX99,264,999 - 99,265,278UniSTS
Whitehead-YAC Contig MapX UniSTS
AL022442  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X109,574,661 - 109,574,825UniSTSGRCh37
Build 36X109,461,317 - 109,461,481RGDNCBI36
CeleraX110,054,284 - 110,054,448RGD
Cytogenetic MapXq22.3UniSTS
HuRefX99,194,957 - 99,195,121UniSTS
L77264  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X109,676,744 - 109,676,814UniSTSGRCh37
Build 36X109,563,400 - 109,563,470RGDNCBI36
CeleraX110,156,368 - 110,156,438RGD
Cytogenetic MapXq23UniSTS
Cytogenetic MapXq22.3UniSTS
HuRefX99,297,472 - 99,297,542UniSTS
AL008900  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X109,638,553 - 109,638,675UniSTSGRCh37
Build 36X109,525,209 - 109,525,331RGDNCBI36
CeleraX110,118,177 - 110,118,299RGD
Cytogenetic MapXq22.3UniSTS
HuRefX99,259,577 - 99,259,699UniSTS
RH77921  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X109,439,761 - 109,439,943UniSTSGRCh37
Build 36X109,326,417 - 109,326,599RGDNCBI36
CeleraX109,919,384 - 109,919,566RGD
Cytogenetic MapXq22.3UniSTS
HuRefX99,060,369 - 99,060,551UniSTS
GeneMap99-GB4 RH MapX283.41UniSTS
DXS7599  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X109,532,009 - 109,532,181UniSTSGRCh37
Build 36X109,418,665 - 109,418,837RGDNCBI36
CeleraX110,011,632 - 110,011,804RGD
Cytogenetic MapXq22.3UniSTS
HuRefX99,151,804 - 99,151,976UniSTS
AF020160  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X109,656,290 - 109,656,391UniSTSGRCh37
Build 36X109,542,946 - 109,543,047RGDNCBI36
CeleraX110,135,914 - 110,136,015RGD
Cytogenetic MapXq22.3UniSTS
WI-16868  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X109,552,402 - 109,552,551UniSTSGRCh37
Build 36X109,439,058 - 109,439,207RGDNCBI36
CeleraX110,032,025 - 110,032,174RGD
Cytogenetic MapXq22.3UniSTS
HuRefX99,172,070 - 99,172,219UniSTS
GeneMap99-GB4 RH MapX287.52UniSTS
Whitehead-RH MapX268.2UniSTS
DXS9727  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X109,675,972 - 109,676,179UniSTSGRCh37
Build 36X109,562,628 - 109,562,835RGDNCBI36
CeleraX110,155,596 - 110,155,803RGD
Cytogenetic MapXq23UniSTS
Cytogenetic MapXq22.3UniSTS
HuRefX99,296,700 - 99,296,907UniSTS
SGC34545  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X109,439,652 - 109,439,782UniSTSGRCh37
Build 36X109,326,308 - 109,326,438RGDNCBI36
CeleraX109,919,275 - 109,919,405RGD
Cytogenetic MapXq22.3UniSTS
HuRefX99,060,260 - 99,060,390UniSTS
GeneMap99-GB4 RH MapX280.91UniSTS
Whitehead-RH MapX269.7UniSTS
NCBI RH MapX561.2UniSTS
RH11202  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X109,437,493 - 109,437,658UniSTSGRCh37
Build 36X109,324,149 - 109,324,314RGDNCBI36
CeleraX109,917,116 - 109,917,281RGD
Cytogenetic MapXq22.3UniSTS
HuRefX99,058,101 - 99,058,266UniSTS
GeneMap99-GB4 RH MapX283.41UniSTS
A009N07  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X109,552,475 - 109,552,657UniSTSGRCh37
Build 36X109,439,131 - 109,439,313RGDNCBI36
CeleraX110,032,098 - 110,032,280RGD
Cytogenetic MapXq22.3UniSTS
HuRefX99,172,143 - 99,172,325UniSTS
GeneMap99-GB4 RH MapX287.52UniSTS
NCBI RH MapX556.2UniSTS
L77265  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X109,676,718 - 109,676,814UniSTSGRCh37
Build 36X109,563,374 - 109,563,470RGDNCBI36
CeleraX110,156,342 - 110,156,438RGD
Cytogenetic MapXq23UniSTS
Cytogenetic MapXq22.3UniSTS
HuRefX99,297,446 - 99,297,542UniSTS
AF026413  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X109,506,143 - 109,506,202UniSTSGRCh37
Build 36X109,392,799 - 109,392,858RGDNCBI36
CeleraX109,985,766 - 109,985,825RGD
Cytogenetic MapXq22.3UniSTS
HuRefX99,125,431 - 99,125,490UniSTS
G32676  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X109,552,475 - 109,552,657UniSTSGRCh37
CeleraX110,032,098 - 110,032,280UniSTS
Cytogenetic MapXq22.3UniSTS
HuRefX99,172,143 - 99,172,325UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR10Bhsa-miR-10b-3pMirtarbaseexternal_infoCLASHFunctional MTI (Weak)23622248

Predicted Target Of
Summary Value
Count of predictions:7867
Count of miRNA genes:1339
Interacting mature miRNAs:1738
Transcripts:ENST00000262844, ENST00000372057, ENST00000372059, ENST00000473662, ENST00000496695
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 148 3 45 33 590 33 989 52 76 99 363 245 10 66 419 3
Low 2283 2569 1676 587 1238 429 3305 1821 3317 317 1088 1363 163 1137 2308 1
Below cutoff 2 412 3 2 120 2 61 320 338 2 4 1 1 1 1 61 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016469 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001025580 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001171689 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_015365 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC000113 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ007014 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ012221 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ012222 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ012223 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ012224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ012225 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ012226 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001703 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK023637 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK055321 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091430 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314596 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL079334 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL137844 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL359079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC024762 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC037983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC051895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC060813 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC065214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648797 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA203031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459306 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178496 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178497 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000262844   ⟹   ENSP00000262844
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX110,194,186 - 110,318,085 (-)Ensembl
RefSeq Acc Id: ENST00000372057   ⟹   ENSP00000361127
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX110,196,410 - 110,440,233 (-)Ensembl
RefSeq Acc Id: ENST00000372059   ⟹   ENSP00000361129
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX110,196,372 - 110,318,084 (-)Ensembl
RefSeq Acc Id: ENST00000473662
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX110,219,480 - 110,317,771 (-)Ensembl
RefSeq Acc Id: ENST00000496695
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX110,309,150 - 110,317,756 (-)Ensembl
RefSeq Acc Id: ENST00000680410
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX110,196,438 - 110,440,318 (-)Ensembl
RefSeq Acc Id: NM_001025580   ⟹   NP_001020751
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X110,194,186 - 110,318,085 (-)NCBI
GRCh37X109,437,414 - 109,683,461 (-)RGD
Build 36X109,324,070 - 109,448,036 (-)NCBI Archive
CeleraX109,917,037 - 110,163,085 (-)RGD
HuRefX99,058,022 - 99,303,793 (-)ENTREZGENE
CHM1_1X109,348,657 - 109,472,596 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001171689   ⟹   NP_001165160
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X110,194,186 - 110,440,233 (-)NCBI
GRCh37X109,437,414 - 109,683,461 (-)RGD
CeleraX109,917,037 - 110,163,085 (-)RGD
HuRefX99,058,022 - 99,303,793 (-)ENTREZGENE
CHM1_1X109,348,657 - 109,594,672 (-)NCBI
Sequence:
RefSeq Acc Id: NM_015365   ⟹   NP_056180
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X110,194,186 - 110,318,085 (-)NCBI
GRCh37X109,437,414 - 109,683,461 (-)RGD
Build 36X109,324,070 - 109,448,036 (-)NCBI Archive
CeleraX109,917,037 - 110,163,085 (-)RGD
HuRefX99,058,022 - 99,303,793 (-)ENTREZGENE
CHM1_1X109,348,657 - 109,472,596 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001020751   ⟸   NM_001025580
- Peptide Label: isoform 2
- UniProtKB: Q9Y4X0 (UniProtKB/Swiss-Prot),   A0A0S2Z4V0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_056180   ⟸   NM_015365
- Peptide Label: isoform 1
- UniProtKB: Q9Y4X0 (UniProtKB/Swiss-Prot),   A0A0S2Z4X0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001165160   ⟸   NM_001171689
- Peptide Label: isoform 3
- UniProtKB: Q9Y4X0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000361127   ⟸   ENST00000372057
RefSeq Acc Id: ENSP00000361129   ⟸   ENST00000372059
RefSeq Acc Id: ENSP00000262844   ⟸   ENST00000262844
Protein Domains
AMMECR1

Promoters
RGD ID:6808481
Promoter ID:HG_KWN:67752
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001025580,   OTTHUMT00000057907,   OTTHUMT00000057909,   OTTHUMT00000057910
Position:
Human AssemblyChrPosition (strand)Source
Build 36X109,447,726 - 109,448,226 (-)MPROMDB
RGD ID:13627862
Promoter ID:EPDNEW_H29207
Type:initiation region
Name:AMMECR1_1
Description:Alport syndrome, mental retardation, midface hypoplasia and elliptocytosischromosomal region gene 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X110,318,084 - 110,318,144EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
t(X;9)(q23;q12)dn translocation Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis [RCV000727550] ChrX:Xq23 likely pathogenic
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
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 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:10679-156013167)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:10679-156022206)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)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 Xq23(chrX:110192980-110500458)x0 copy number loss See cases [RCV000051727] ChrX:110192980..110500458 [GRCh38]
ChrX:109436208..109743686 [GRCh37]
ChrX:109322864..109630342 [NCBI36]
ChrX:Xq23
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 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 Xq22.1-28(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 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 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 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 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 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 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_001171689.1(AMMECR1):c.-148+38923A>T single nucleotide variant Lung cancer [RCV000102169] ChrX:110387735 [GRCh38]
ChrX:109630963 [GRCh37]
ChrX:Xq23
uncertain significance
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
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: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: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 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 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: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 Xq23(chrX:109505229-110588158)x3 copy number gain See cases [RCV000136581] ChrX:109505229..110588158 [GRCh38]
ChrX:108748458..109831386 [GRCh37]
ChrX:108635114..109718042 [NCBI36]
ChrX:Xq23
uncertain significance
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 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-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 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 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: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 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 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 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 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 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 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 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 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 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 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 Xq23(chrX:110359806-111260954)x3 copy number gain See cases [RCV000140082] ChrX:110359806..111260954 [GRCh38]
ChrX:109603034..110504182 [GRCh37]
ChrX:109489690..110390838 [NCBI36]
ChrX:Xq23
uncertain significance
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 Xq23(chrX:110132832-111177628)x3 copy number gain See cases [RCV000141767] ChrX:110132832..111177628 [GRCh38]
ChrX:109376060..110420856 [GRCh37]
ChrX:109262716..110307512 [NCBI36]
ChrX:Xq23
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 Xq21.1-28(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 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 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: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
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
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:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
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
Single allele duplication Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis [RCV000677949] ChrX:109412385..109552503 [GRCh37]
ChrX:Xq23
uncertain significance
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: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: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
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [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:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [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
NM_015365.3(AMMECR1):c.429T>A (p.Tyr143Ter) single nucleotide variant Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis [RCV000515137] ChrX:110317643 [GRCh38]
ChrX:109560871 [GRCh37]
ChrX:Xq23
pathogenic
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_015365.3(AMMECR1):c.502C>T (p.Arg168Ter) single nucleotide variant Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis [RCV000416320] ChrX:110264571 [GRCh38]
ChrX:109507799 [GRCh37]
ChrX:Xq23
pathogenic
NM_015365.3(AMMECR1):c.530G>A (p.Gly177Asp) single nucleotide variant Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis [RCV000416359] ChrX:110264543 [GRCh38]
ChrX:109507771 [GRCh37]
ChrX:Xq23
pathogenic|likely 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:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..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 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:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
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:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [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 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 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 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..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:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [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: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:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NC_000023.11:g.110250890_110665082del deletion Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis [RCV000515470] ChrX:110250890..110665082 [GRCh38]
ChrX:Xq23
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 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 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-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 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:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [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
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 Xq21.33-28(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
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 Xq22.3-28(chrX:107823442-155233731)x1 copy number loss not provided [RCV000684373] ChrX:107823442..155233731 [GRCh37]
ChrX:Xq22.3-28
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 Xq22.3-28(chrX:104098124-155233731)x1 copy number loss not provided [RCV000846958] ChrX:104098124..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xq23(chrX:109680113-109698759)x2 copy number gain not provided [RCV000753704] ChrX:109680113..109698759 [GRCh37]
ChrX:Xq23
benign
NM_015365.3(AMMECR1):c.454del (p.Arg152fs) deletion Short stature [RCV000736184] ChrX:110317618 [GRCh38]
ChrX:109560846 [GRCh37]
ChrX:Xq23
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:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [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
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
Single allele duplication Schizophrenia [RCV000754364] ChrX:110074915..115196481 [GRCh38]
ChrX:Xq23
likely 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
NM_015365.3(AMMECR1):c.750A>G (p.Lys250=) single nucleotide variant not provided [RCV000923197] ChrX:110202486 [GRCh38]
ChrX:109445714 [GRCh37]
ChrX:Xq23
benign
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 Xq21.32-28(chrX:92814516-155233731)x1 copy number loss not provided [RCV000845672] ChrX:92814516..155233731 [GRCh37]
ChrX:Xq21.32-28
pathogenic
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_015365.3(AMMECR1):c.960T>C (p.Asn320=) single nucleotide variant not provided [RCV000960090] ChrX:110198562 [GRCh38]
ChrX:109441790 [GRCh37]
ChrX:Xq23
benign
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_015365.3(AMMECR1):c.18C>T (p.Cys6=) single nucleotide variant not provided [RCV000936939] ChrX:110318054 [GRCh38]
ChrX:109561282 [GRCh37]
ChrX:Xq23
likely benign
NM_015365.3(AMMECR1):c.861A>G (p.Glu287=) single nucleotide variant not provided [RCV000942288] ChrX:110200980 [GRCh38]
ChrX:109444208 [GRCh37]
ChrX:Xq23
likely benign
NM_015365.3(AMMECR1):c.454dup (p.Arg152fs) duplication not provided [RCV001008168] ChrX:110317617..110317618 [GRCh38]
ChrX:109560845..109560846 [GRCh37]
ChrX:Xq23
pathogenic
GRCh37/hg19 Xq23(chrX:109418639-110180983)x1 copy number loss not provided [RCV001007333] ChrX:109418639..110180983 [GRCh37]
ChrX:Xq23
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
NM_015365.3(AMMECR1):c.433_448del (p.Tyr145fs) deletion not provided [RCV001008249] ChrX:110317624..110317639 [GRCh38]
ChrX:109560852..109560867 [GRCh37]
ChrX:Xq23
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq23(chrX:109275164-109662016)x3 copy number gain not provided [RCV000847328] ChrX:109275164..109662016 [GRCh37]
ChrX:Xq23
uncertain significance
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
NM_015365.3(AMMECR1):c.822A>G (p.Leu274=) single nucleotide variant not provided [RCV000895333] ChrX:110201019 [GRCh38]
ChrX:109444247 [GRCh37]
ChrX:Xq23
likely benign
NM_015365.3(AMMECR1):c.12T>C (p.Gly4=) single nucleotide variant not provided [RCV000934009] ChrX:110318060 [GRCh38]
ChrX:109561288 [GRCh37]
ChrX:Xq23
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
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 Xq21.1-25(chrX:77514079-127770854)x1 copy number loss not provided [RCV001259005] ChrX:77514079..127770854 [GRCh37]
ChrX:Xq21.1-25
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1 copy number loss not provided [RCV001259012] ChrX:94264404..155233731 [GRCh37]
ChrX:Xq21.33-28
pathogenic
NM_015365.3(AMMECR1):c.805C>T (p.Gln269Ter) single nucleotide variant Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis [RCV001293686] ChrX:110201036 [GRCh38]
ChrX:109444264 [GRCh37]
ChrX:Xq23
likely 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 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:467 AgrOrtholog
COSMIC AMMECR1 COSMIC
Ensembl Genes ENSG00000101935 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000262844 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000361127 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000361129 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000262844 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000372057 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000372059 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 3.30.700.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000101935 GTEx
HGNC ID HGNC:467 ENTREZGENE
Human Proteome Map AMMECR1 Human Proteome Map
InterPro AMMECR1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AMMECR1_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AMMECR1_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AMMECR1_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9949 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 9949 ENTREZGENE
OMIM 300195 OMIM
  300990 OMIM
PANTHER PTHR13016 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam AMMECR1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA24772 PharmGKB
PROSITE AMMECR1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF143447 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs TIGR00296 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0S2Z4V0 ENTREZGENE, UniProtKB/TrEMBL
  A0A0S2Z4X0 ENTREZGENE, UniProtKB/TrEMBL
  AMMR1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary Q5JYV9 UniProtKB/Swiss-Prot
  Q6P9D8 UniProtKB/Swiss-Prot
  Q8WX22 UniProtKB/Swiss-Prot
  Q9UIQ8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-08-27 AMMECR1  AMMECR nuclear protein 1  AMMECR1  Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1  Symbol and/or name change 5135510 APPROVED