IGFALS (insulin like growth factor binding protein acid labile subunit) - Rat Genome Database

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Gene: IGFALS (insulin like growth factor binding protein acid labile subunit) Homo sapiens
Analyze
Symbol: IGFALS
Name: insulin like growth factor binding protein acid labile subunit
RGD ID: 68640
HGNC Page HGNC
Description: Predicted to enable insulin-like growth factor binding activity. Predicted to be involved in signal transduction. Located in extracellular exosome. Part of insulin-like growth factor ternary complex. Biomarker of Noonan syndrome; anorexia nervosa; congenital disorder of glycosylation Ia; isolated growth hormone deficiency; and nephrotic syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ACLSD; ALS; insulin-like growth factor binding protein complex acid labile chain; insulin-like growth factor binding protein, acid labile subunit; insulin-like growth factor-binding protein complex acid labile subunit
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 Ensembl161,790,413 - 1,794,971 (-)EnsemblGRCh38hg38GRCh38
GRCh38161,790,413 - 1,794,908 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37161,840,414 - 1,844,909 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36161,780,420 - 1,783,710 (-)NCBINCBI36hg18NCBI36
Build 34161,780,421 - 1,783,710NCBI
Celera162,052,696 - 2,057,191 (-)NCBI
Cytogenetic Map16p13.3NCBI
HuRef161,763,315 - 1,767,810 (-)NCBIHuRef
CHM1_1161,840,362 - 1,844,857 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (EXP)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dinitrotoluene  (ISO)
2-acetamidofluorene  (ISO)
3,3',4,4'-tetrachlorobiphenyl  (ISO)
3-chloropropane-1,2-diol  (ISO)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP)
amiodarone  (EXP,ISO)
ammonium chloride  (ISO)
benzbromarone  (ISO)
benzo[a]pyrene  (EXP,ISO)
bisphenol A  (ISO)
buta-1,3-diene  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (ISO)
carbon nanotube  (ISO)
chlorpyrifos  (ISO)
cisplatin  (ISO)
clofibrate  (ISO)
clofibric acid  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
coumarin  (ISO)
cyclosporin A  (EXP)
cyproconazole  (ISO)
deoxynivalenol  (ISO)
dichlorine  (ISO)
endosulfan  (ISO)
epoxiconazole  (ISO)
flutamide  (ISO)
fumonisin B1  (ISO)
furan  (ISO)
glafenine  (ISO)
glutathione  (ISO)
griseofulvin  (ISO)
GW 4064  (ISO)
indole-3-methanol  (ISO)
L-ethionine  (ISO)
leflunomide  (ISO)
methapyrilene  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
nefazodone  (ISO)
nickel atom  (EXP)
nimesulide  (ISO)
obeticholic acid  (EXP)
omeprazole  (ISO)
oxycodone  (ISO)
ozone  (ISO)
p-menthan-3-ol  (EXP)
paracetamol  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
phenformin  (ISO)
pirinixic acid  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
propiconazole  (ISO)
rotenone  (ISO)
silicon dioxide  (ISO)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenite  (EXP)
sodium dichromate  (ISO)
tamoxifen  (ISO)
tetrachloroethene  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
trichloroethene  (ISO)
triclosan  (EXP)
triptonide  (ISO)
urethane  (EXP)
ursodeoxycholic acid  (ISO)
valproic acid  (EXP,ISO)
zinc atom  (EXP,ISO)
zinc(0)  (EXP,ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:1379671   PMID:1384485   PMID:2473065   PMID:9446566   PMID:9497324   PMID:9786878   PMID:10512690   PMID:10650966   PMID:10823924   PMID:11591653   PMID:11914026   PMID:12364447  
PMID:12477932   PMID:14718574   PMID:15126567   PMID:15616553   PMID:16114275   PMID:16335952   PMID:16344560   PMID:16404426   PMID:17063263   PMID:17546465   PMID:17726072   PMID:18029348  
PMID:18303074   PMID:18349294   PMID:18362293   PMID:18463107   PMID:18676680   PMID:19056867   PMID:19129715   PMID:19170196   PMID:19453261   PMID:19625176   PMID:19729943   PMID:20142246  
PMID:20155489   PMID:20302654   PMID:20591980   PMID:20634197   PMID:20734064   PMID:20810604   PMID:20943791   PMID:21177759   PMID:21216879   PMID:21664162   PMID:21873635   PMID:22678306  
PMID:22689435   PMID:23376485   PMID:23533145   PMID:24335034   PMID:24423360   PMID:26344197   PMID:26704943   PMID:27018247   PMID:28249955   PMID:28389567   PMID:29507755   PMID:31834863  


Genomics

Comparative Map Data
IGFALS
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl161,790,413 - 1,794,971 (-)EnsemblGRCh38hg38GRCh38
GRCh38161,790,413 - 1,794,908 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37161,840,414 - 1,844,909 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36161,780,420 - 1,783,710 (-)NCBINCBI36hg18NCBI36
Build 34161,780,421 - 1,783,710NCBI
Celera162,052,696 - 2,057,191 (-)NCBI
Cytogenetic Map16p13.3NCBI
HuRef161,763,315 - 1,767,810 (-)NCBIHuRef
CHM1_1161,840,362 - 1,844,857 (-)NCBICHM1_1
Igfals
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391725,096,818 - 25,100,985 (+)NCBIGRCm39mm39
GRCm39 Ensembl1725,084,971 - 25,100,984 (+)Ensembl
GRCm381724,877,844 - 24,882,011 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1724,865,997 - 24,882,010 (+)EnsemblGRCm38mm10GRCm38
MGSCv371725,015,715 - 25,018,953 (+)NCBIGRCm37mm9NCBIm37
MGSCv361724,606,370 - 24,609,608 (+)NCBImm8
Celera1725,405,538 - 25,408,777 (+)NCBICelera
Cytogenetic Map17A3.3NCBI
cM Map1712.53NCBI
Igfals
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21013,897,468 - 13,903,920 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl1013,898,395 - 13,902,677 (+)Ensembl
Rnor_6.01014,240,308 - 14,243,554 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1014,240,219 - 14,243,597 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01014,056,324 - 14,059,570 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41014,127,416 - 14,130,662 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11014,127,516 - 14,130,444 (+)NCBI
Celera1013,578,539 - 13,581,785 (+)NCBICelera
Cytogenetic Map10q12NCBI
Igfals
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544215,478,202 - 15,482,115 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495544215,469,602 - 15,482,115 (+)NCBIChiLan1.0ChiLan1.0
IGFALS
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1161,843,979 - 1,847,313 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl161,843,979 - 1,848,442 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v016412,671 - 418,351 (-)NCBIMhudiblu_PPA_v0panPan3
IGFALS
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1639,115,744 - 39,118,831 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl639,114,315 - 39,119,652 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha640,351,263 - 40,357,736 (+)NCBI
ROS_Cfam_1.0639,428,804 - 39,435,271 (+)NCBI
UMICH_Zoey_3.1639,108,949 - 39,111,968 (+)NCBI
UNSW_CanFamBas_1.0639,078,076 - 39,084,548 (+)NCBI
UU_Cfam_GSD_1.0639,556,554 - 39,563,011 (+)NCBI
Igfals
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344104,502,118 - 104,511,278 (-)NCBI
SpeTri2.0NW_0049366942,205,294 - 2,207,343 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
IGFALS
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl340,174,764 - 40,177,785 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1340,173,595 - 40,177,789 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2341,634,233 - 41,640,585 (-)NCBISscrofa10.2Sscrofa10.2susScr3
IGFALS
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.151,698,787 - 1,704,205 (-)NCBI
ChlSab1.1 Ensembl51,698,978 - 1,701,972 (-)Ensembl
Vero_WHO_p1.0NW_02366606829,382,141 - 29,387,558 (+)NCBI
Igfals
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624913460,862 - 464,457 (+)NCBI

Position Markers
IGFALS_349  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37161,840,403 - 1,841,177UniSTSGRCh37
Build 36161,780,404 - 1,781,178RGDNCBI36
Celera162,052,685 - 2,053,459RGD
HuRef161,763,304 - 1,764,078UniSTS
D16S2960  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37161,840,421 - 1,840,599UniSTSGRCh37
Build 36161,780,422 - 1,780,600RGDNCBI36
Celera162,052,703 - 2,052,881RGD
Cytogenetic Map16p13.3UniSTS
HuRef161,763,322 - 1,763,500UniSTS
GeneMap99-GB4 RH Map1644.91UniSTS
Whitehead-RH Map1615.5UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:967
Count of miRNA genes:504
Interacting mature miRNAs:557
Transcripts:ENST00000215539, ENST00000415638, ENST00000568221
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High
Medium 170 344 331 331 1 17 20
Low 1437 620 1078 174 411 109 2530 730 3045 217 1100 1303 69 1 348 1701
Below cutoff 803 2307 300 115 1285 23 1730 1439 653 170 308 268 102 847 1085 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011778 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001146006 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004970 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_027389 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC012180 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AE006639 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF192554 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292182 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303146 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309598 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313198 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315808 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL031724 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC025681 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA642067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M86826 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000215539   ⟹   ENSP00000215539
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl161,790,413 - 1,793,705 (-)Ensembl
RefSeq Acc Id: ENST00000415638   ⟹   ENSP00000416683
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl161,790,476 - 1,793,732 (-)Ensembl
RefSeq Acc Id: ENST00000568221   ⟹   ENSP00000456923
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl161,791,805 - 1,794,971 (-)Ensembl
RefSeq Acc Id: NM_001146006   ⟹   NP_001139478
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38161,790,413 - 1,793,705 (-)NCBI
GRCh37161,840,414 - 1,844,909 (-)ENTREZGENE
HuRef161,763,315 - 1,767,810 (-)ENTREZGENE
CHM1_1161,840,362 - 1,843,682 (-)NCBI
Sequence:
RefSeq Acc Id: NM_004970   ⟹   NP_004961
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38161,790,413 - 1,793,705 (-)NCBI
GRCh37161,840,414 - 1,844,909 (-)ENTREZGENE
Build 36161,780,420 - 1,783,710 (-)NCBI Archive
HuRef161,763,315 - 1,767,810 (-)ENTREZGENE
CHM1_1161,840,362 - 1,843,682 (-)NCBI
Sequence:
RefSeq Acc Id: NR_027389
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38161,790,413 - 1,794,908 (-)NCBI
GRCh37161,840,414 - 1,844,909 (-)ENTREZGENE
HuRef161,763,315 - 1,767,810 (-)ENTREZGENE
CHM1_1161,840,362 - 1,844,857 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_004961   ⟸   NM_004970
- Peptide Label: isoform 2 precursor
- UniProtKB: P35858 (UniProtKB/Swiss-Prot),   Q8TAY0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001139478   ⟸   NM_001146006
- Peptide Label: isoform 1 precursor
- UniProtKB: P35858 (UniProtKB/Swiss-Prot),   Q8TAY0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000215539   ⟸   ENST00000215539
RefSeq Acc Id: ENSP00000416683   ⟸   ENST00000415638
RefSeq Acc Id: ENSP00000456923   ⟸   ENST00000568221
Protein Domains
LRRCT   LRRNT

Promoters
RGD ID:7230945
Promoter ID:EPDNEW_H21217
Type:multiple initiation site
Name:IGFALS_1
Description:insulin like growth factor binding protein acid labile subunit
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38161,790,893 - 1,790,953EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_004970.2(IGFALS):c.103del (p.Glu35fs) deletion Acid-labile subunit deficiency [RCV000008600] Chr16:1792315 [GRCh38]
Chr16:1842316 [GRCh37]
Chr16:16p13.3
pathogenic
NM_004970.2(IGFALS):c.1618T>C (p.Cys540Arg) single nucleotide variant Acid-labile subunit deficiency [RCV000008601] Chr16:1790800 [GRCh38]
Chr16:1840801 [GRCh37]
Chr16:16p13.3
pathogenic
NM_004970.2(IGFALS):c.583_591dup (p.Ser195_Arg197dup) duplication Acid-labile subunit deficiency [RCV000008602] Chr16:1791826..1791827 [GRCh38]
Chr16:1841827..1841828 [GRCh37]
Chr16:16p13.3
pathogenic
GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3 copy number gain See cases [RCV000052367] Chr16:23141..11296695 [GRCh38]
Chr16:73141..11390552 [GRCh37]
Chr16:13141..11298053 [NCBI36]
Chr16:16p13.3-13.13
pathogenic
GRCh38/hg38 16p13.3(chr16:29941-2560460)x3 copy number gain See cases [RCV000052368] Chr16:29941..2560460 [GRCh38]
Chr16:79941..2610461 [GRCh37]
Chr16:19941..2550462 [NCBI36]
Chr16:16p13.3
pathogenic
GRCh38/hg38 16p13.3(chr16:46566-1800860)x3 copy number gain See cases [RCV000052369] Chr16:46566..1800860 [GRCh38]
Chr16:96566..1850861 [GRCh37]
Chr16:36566..1790862 [NCBI36]
Chr16:16p13.3
pathogenic
GRCh38/hg38 16p13.3(chr16:46766-3214623)x3 copy number gain See cases [RCV000052370] Chr16:46766..3214623 [GRCh38]
Chr16:96766..3264623 [GRCh37]
Chr16:36766..3204624 [NCBI36]
Chr16:16p13.3
pathogenic
GRCh38/hg38 16p13.3(chr16:1221651-2233773)x3 copy number gain See cases [RCV000052373] Chr16:1221651..2233773 [GRCh38]
Chr16:1271651..2283774 [GRCh37]
Chr16:1211652..2223775 [NCBI36]
Chr16:16p13.3
pathogenic
GRCh38/hg38 16p13.3(chr16:1278821-1919148)x3 copy number gain See cases [RCV000052375] Chr16:1278821..1919148 [GRCh38]
Chr16:1328822..1969149 [GRCh37]
Chr16:1268823..1909150 [NCBI36]
Chr16:16p13.3
pathogenic
GRCh38/hg38 16p13.3(chr16:46766-1997582)x1 copy number loss See cases [RCV000053253] Chr16:46766..1997582 [GRCh38]
Chr16:96766..2047583 [GRCh37]
Chr16:36766..1987584 [NCBI36]
Chr16:16p13.3
pathogenic
GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3 copy number gain See cases [RCV000133780] Chr16:46766..11525516 [GRCh38]
Chr16:96766..11619372 [GRCh37]
Chr16:36766..11526873 [NCBI36]
Chr16:16p13.3-13.13
pathogenic
GRCh38/hg38 16p13.3(chr16:46766-4247185)x3 copy number gain See cases [RCV000136687] Chr16:46766..4247185 [GRCh38]
Chr16:96766..4297186 [GRCh37]
Chr16:36766..4237187 [NCBI36]
Chr16:16p13.3
pathogenic
GRCh38/hg38 16p13.3(chr16:46722-1867327)x1 copy number loss See cases [RCV000137826] Chr16:46722..1867327 [GRCh38]
Chr16:96722..1917328 [GRCh37]
Chr16:36722..1857329 [NCBI36]
Chr16:16p13.3
pathogenic
GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3 copy number gain See cases [RCV000139166] Chr16:43732..13326806 [GRCh38]
Chr16:93732..13420663 [GRCh37]
Chr16:33732..13328164 [NCBI36]
Chr16:16p13.3-13.12
pathogenic
GRCh38/hg38 16p13.3(chr16:1754785-1816283)x1 copy number loss See cases [RCV000141133] Chr16:1754785..1816283 [GRCh38]
Chr16:1804786..1866284 [GRCh37]
Chr16:1744787..1806285 [NCBI36]
Chr16:16p13.3
benign
GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3 copy number gain See cases [RCV000143710] Chr16:666662..15743104 [GRCh38]
Chr16:716662..15836961 [GRCh37]
Chr16:656663..15744462 [NCBI36]
Chr16:16p13.3-13.11
pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3 copy number gain See cases [RCV000203445] Chr16:102839..28327676 [GRCh37]
Chr16:16p13.3-11.2
pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3 copy number gain Ductal breast carcinoma [RCV000207053] Chr16:1279324..31926800 [GRCh37]
Chr16:16p13.3-11.2
uncertain significance
GRCh37/hg19 16p13.3-12.3(chr16:1274615-19073133)x3 copy number gain Ductal breast carcinoma [RCV000207326] Chr16:1274615..19073133 [GRCh37]
Chr16:16p13.3-12.3
uncertain significance
NM_004970.2(IGFALS):c.-53A>G single nucleotide variant Acid-labile subunit deficiency [RCV000265202] Chr16:1793705 [GRCh38]
Chr16:1843706 [GRCh37]
Chr16:16p13.3
likely benign|uncertain significance
NM_004970.2(IGFALS):c.593A>T (p.Glu198Val) single nucleotide variant Acid-labile subunit deficiency [RCV000286529] Chr16:1791825 [GRCh38]
Chr16:1841826 [GRCh37]
Chr16:16p13.3
benign|uncertain significance
NM_004970.2(IGFALS):c.*175C>T single nucleotide variant Acid-labile subunit deficiency [RCV000305196] Chr16:1790425 [GRCh38]
Chr16:1840426 [GRCh37]
Chr16:16p13.3
likely benign|uncertain significance
NM_004970.2(IGFALS):c.872G>A (p.Gly291Asp) single nucleotide variant Acid-labile subunit deficiency [RCV000269744] Chr16:1791546 [GRCh38]
Chr16:1841547 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_004970.2(IGFALS):c.1724C>T (p.Ala575Val) single nucleotide variant Acid-labile subunit deficiency [RCV000271162] Chr16:1790694 [GRCh38]
Chr16:1840695 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_004970.2(IGFALS):c.1291del (p.Trp431fs) deletion not provided [RCV000385915] Chr16:1791127 [GRCh38]
Chr16:1841128 [GRCh37]
Chr16:16p13.3
pathogenic
NM_004970.2(IGFALS):c.801G>A (p.Ala267=) single nucleotide variant Acid-labile subunit deficiency [RCV000274632]|not provided [RCV000960961] Chr16:1791617 [GRCh38]
Chr16:1841618 [GRCh37]
Chr16:16p13.3
benign|likely benign
NM_004970.2(IGFALS):c.17-5C>A single nucleotide variant Acid-labile subunit deficiency [RCV000259731] Chr16:1792406 [GRCh38]
Chr16:1842407 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_004970.2(IGFALS):c.1642C>T (p.Arg548Trp) single nucleotide variant Acid-labile subunit deficiency [RCV000295384] Chr16:1790776 [GRCh38]
Chr16:1840777 [GRCh37]
Chr16:16p13.3
benign
NM_004970.2(IGFALS):c.1386C>T (p.Tyr462=) single nucleotide variant Acid-labile subunit deficiency [RCV000278610] Chr16:1791032 [GRCh38]
Chr16:1841033 [GRCh37]
Chr16:16p13.3
benign
NM_004970.2(IGFALS):c.91G>A (p.Gly31Arg) single nucleotide variant Acid-labile subunit deficiency [RCV000263279] Chr16:1792327 [GRCh38]
Chr16:1842328 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_004970.2(IGFALS):c.646G>A (p.Gly216Ser) single nucleotide variant Acid-labile subunit deficiency [RCV000280570] Chr16:1791772 [GRCh38]
Chr16:1841773 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_004970.2(IGFALS):c.1266C>T (p.Leu422=) single nucleotide variant Acid-labile subunit deficiency [RCV000343021]|not provided [RCV000924025] Chr16:1791152 [GRCh38]
Chr16:1841153 [GRCh37]
Chr16:16p13.3
likely benign|uncertain significance
NM_004970.2(IGFALS):c.1414G>C (p.Glu472Gln) single nucleotide variant Acid-labile subunit deficiency [RCV000390948] Chr16:1791004 [GRCh38]
Chr16:1841005 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_004970.2(IGFALS):c.99G>A (p.Pro33=) single nucleotide variant Acid-labile subunit deficiency [RCV000367192]|not provided [RCV000968721] Chr16:1792319 [GRCh38]
Chr16:1842320 [GRCh37]
Chr16:16p13.3
benign|likely benign|uncertain significance
NM_004970.2(IGFALS):c.827A>G (p.Asn276Ser) single nucleotide variant Acid-labile subunit deficiency [RCV000369230] Chr16:1791591 [GRCh38]
Chr16:1841592 [GRCh37]
Chr16:16p13.3
likely pathogenic
NM_004970.2(IGFALS):c.1466T>C (p.Val489Ala) single nucleotide variant Acid-labile subunit deficiency [RCV000282316] Chr16:1790952 [GRCh38]
Chr16:1840953 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_004970.2(IGFALS):c.-19A>G single nucleotide variant Acid-labile subunit deficiency [RCV000324270] Chr16:1793671 [GRCh38]
Chr16:1843672 [GRCh37]
Chr16:16p13.3
benign
NM_004970.2(IGFALS):c.1708G>A (p.Asp570Asn) single nucleotide variant Acid-labile subunit deficiency [RCV000326303] Chr16:1790710 [GRCh38]
Chr16:1840711 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_004970.2(IGFALS):c.289C>T (p.Leu97Phe) single nucleotide variant Acid-labile subunit deficiency [RCV000347816]|not provided [RCV000960962] Chr16:1792129 [GRCh38]
Chr16:1842130 [GRCh37]
Chr16:16p13.3
benign|likely benign
NM_004970.2(IGFALS):c.605C>T (p.Ala202Val) single nucleotide variant Acid-labile subunit deficiency [RCV000371684] Chr16:1791813 [GRCh38]
Chr16:1841814 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_004970.2(IGFALS):c.684C>T (p.Asn228=) single nucleotide variant Acid-labile subunit deficiency [RCV000374922] Chr16:1791734 [GRCh38]
Chr16:1841735 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_004970.2(IGFALS):c.777G>A (p.Pro259=) single nucleotide variant Acid-labile subunit deficiency [RCV000329608] Chr16:1791641 [GRCh38]
Chr16:1841642 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_004970.2(IGFALS):c.920C>T (p.Pro307Leu) single nucleotide variant Acid-labile subunit deficiency [RCV000309435] Chr16:1791498 [GRCh38]
Chr16:1841499 [GRCh37]
Chr16:16p13.3
likely benign|uncertain significance
NM_004970.2(IGFALS):c.1566G>A (p.Thr522=) single nucleotide variant Acid-labile subunit deficiency [RCV000331677] Chr16:1790852 [GRCh38]
Chr16:1840853 [GRCh37]
Chr16:16p13.3
benign|likely benign
NM_004970.2(IGFALS):c.33G>A (p.Ala11=) single nucleotide variant Acid-labile subunit deficiency [RCV000354370]|not provided [RCV000892324] Chr16:1792385 [GRCh38]
Chr16:1842386 [GRCh37]
Chr16:16p13.3
benign|likely benign
NM_004970.2(IGFALS):c.-32G>A single nucleotide variant Acid-labile subunit deficiency [RCV000378812] Chr16:1793684 [GRCh38]
Chr16:1843685 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_004970.2(IGFALS):c.1031C>T (p.Thr344Met) single nucleotide variant Acid-labile subunit deficiency [RCV000403270] Chr16:1791387 [GRCh38]
Chr16:1841388 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_004970.2(IGFALS):c.*140C>T single nucleotide variant Acid-labile subunit deficiency [RCV000265138] Chr16:1790460 [GRCh38]
Chr16:1840461 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_004970.2(IGFALS):c.107C>A (p.Ala36Asp) single nucleotide variant Acid-labile subunit deficiency [RCV000312555] Chr16:1792311 [GRCh38]
Chr16:1842312 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_004970.2(IGFALS):c.861C>T (p.Pro287=) single nucleotide variant Acid-labile subunit deficiency [RCV000334165]|not provided [RCV000924280] Chr16:1791557 [GRCh38]
Chr16:1841558 [GRCh37]
Chr16:16p13.3
likely benign|uncertain significance
NM_004970.2(IGFALS):c.1195G>A (p.Gly399Arg) single nucleotide variant Acid-labile subunit deficiency [RCV000405771] Chr16:1791223 [GRCh38]
Chr16:1841224 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_004970.2(IGFALS):c.246C>T (p.Asp82=) single nucleotide variant Acid-labile subunit deficiency [RCV000407086] Chr16:1792172 [GRCh38]
Chr16:1842173 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_004970.2(IGFALS):c.371T>C (p.Leu124Pro) single nucleotide variant Acid-labile subunit deficiency [RCV000407096] Chr16:1792047 [GRCh38]
Chr16:1842048 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_004970.2(IGFALS):c.1065G>A (p.Ala355=) single nucleotide variant Acid-labile subunit deficiency [RCV000358639] Chr16:1791353 [GRCh38]
Chr16:1841354 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_004970.2(IGFALS):c.1425G>A (p.Ala475=) single nucleotide variant Acid-labile subunit deficiency [RCV000337295]|not provided [RCV000910602] Chr16:1790993 [GRCh38]
Chr16:1840994 [GRCh37]
Chr16:16p13.3
benign|likely benign
NM_004970.2(IGFALS):c.*155T>G single nucleotide variant Acid-labile subunit deficiency [RCV000359901] Chr16:1790445 [GRCh38]
Chr16:1840446 [GRCh37]
Chr16:16p13.3
likely benign|uncertain significance
NM_004970.2(IGFALS):c.1795G>A (p.Glu599Lys) single nucleotide variant Acid-labile subunit deficiency [RCV000384384] Chr16:1790623 [GRCh38]
Chr16:1840624 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001146006.2(IGFALS):c.748G>A (p.Ala250Thr) single nucleotide variant Acid-labile subunit deficiency [RCV000316923]|not specified [RCV000736082] Chr16:1791784 [GRCh38]
Chr16:1841785 [GRCh37]
Chr16:16p13.3
likely benign|uncertain significance
NM_004970.2(IGFALS):c.1478G>A (p.Arg493His) single nucleotide variant Acid-labile subunit deficiency [RCV000386237] Chr16:1790940 [GRCh38]
Chr16:1840941 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_004970.2(IGFALS):c.210T>C (p.Asp70=) single nucleotide variant Acid-labile subunit deficiency [RCV000362696]|not provided [RCV001539780] Chr16:1792208 [GRCh38]
Chr16:1842209 [GRCh37]
Chr16:16p13.3
benign
NM_004970.2(IGFALS):c.65C>T (p.Pro22Leu) single nucleotide variant Acid-labile subunit deficiency [RCV000318483] Chr16:1792353 [GRCh38]
Chr16:1842354 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_004970.2(IGFALS):c.438C>T (p.Pro146=) single nucleotide variant Acid-labile subunit deficiency [RCV000341548] Chr16:1791980 [GRCh38]
Chr16:1841981 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_004970.2(IGFALS):c.917G>A (p.Arg306Gln) single nucleotide variant Acid-labile subunit deficiency [RCV000364158] Chr16:1791501 [GRCh38]
Chr16:1841502 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_004970.2(IGFALS):c.1694T>C (p.Ile565Thr) single nucleotide variant Acid-labile subunit deficiency [RCV000380918] Chr16:1790724 [GRCh38]
Chr16:1840725 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_004970.2(IGFALS):c.1173G>A (p.Leu391=) single nucleotide variant Acid-labile subunit deficiency [RCV000303726] Chr16:1791245 [GRCh38]
Chr16:1841246 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_004970.2(IGFALS):c.108C>T (p.Ala36=) single nucleotide variant Acid-labile subunit deficiency [RCV000404198] Chr16:1792310 [GRCh38]
Chr16:1842311 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_004970.2(IGFALS):c.340G>A (p.Glu114Lys) single nucleotide variant Acid-labile subunit deficiency [RCV000283501] Chr16:1792078 [GRCh38]
Chr16:1842079 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_004970.2(IGFALS):c.*102C>G single nucleotide variant Acid-labile subunit deficiency [RCV000320306] Chr16:1790498 [GRCh38]
Chr16:1840499 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_004970.2(IGFALS):c.229C>A (p.Gln77Lys) single nucleotide variant Acid-labile subunit deficiency [RCV000308130] Chr16:1792189 [GRCh38]
Chr16:1842190 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_004970.3(IGFALS):c.90C>T (p.Pro30=) single nucleotide variant Acid-labile subunit deficiency [RCV001120524] Chr16:1792328 [GRCh38]
Chr16:1842329 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_004970.3(IGFALS):c.439G>A (p.Ala147Thr) single nucleotide variant Acid-labile subunit deficiency [RCV001120220] Chr16:1791979 [GRCh38]
Chr16:1841980 [GRCh37]
Chr16:16p13.3
uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-13.2(chr16:78801-9169448) copy number gain See cases [RCV000446555] Chr16:78801..9169448 [GRCh37]
Chr16:16p13.3-13.2
pathogenic
GRCh37/hg19 16p13.3(chr16:97133-5122974)x3 copy number gain See cases [RCV000445663] Chr16:97133..5122974 [GRCh37]
Chr16:16p13.3
pathogenic
GRCh37/hg19 16p13.3(chr16:643377-3125125)x3 copy number gain See cases [RCV000510815] Chr16:643377..3125125 [GRCh37]
Chr16:16p13.3
uncertain significance
maternal UPD(16p) complex Hemimegalencephaly [RCV000494707] Chr16:1280042..33710558 [GRCh37]
Chr16:16p13.3-11.2
pathogenic
GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3 copy number gain See cases [RCV000511360] Chr16:85880..22442007 [GRCh37]
Chr16:16p13.3-12.2
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-13.2(chr16:85880-9883129)x3 copy number gain See cases [RCV000510698] Chr16:85880..9883129 [GRCh37]
Chr16:16p13.3-13.2
pathogenic
GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3 copy number gain See cases [RCV000512194] Chr16:85880..19806921 [GRCh37]
Chr16:16p13.3-12.3
pathogenic
GRCh37/hg19 16p13.3(chr16:85880-1875694)x1 copy number loss not provided [RCV000683741] Chr16:85880..1875694 [GRCh37]
Chr16:16p13.3
pathogenic
GRCh37/hg19 16p13.3(chr16:85880-3216551)x3 copy number gain not provided [RCV000683742] Chr16:85880..3216551 [GRCh37]
Chr16:16p13.3
pathogenic
GRCh37/hg19 16p13.3(chr16:1734363-2285561)x1 copy number loss not provided [RCV000683746] Chr16:1734363..2285561 [GRCh37]
Chr16:16p13.3
pathogenic
GRCh37/hg19 16p13.3(chr16:1505184-4415346)x3 copy number gain not provided [RCV000683745] Chr16:1505184..4415346 [GRCh37]
Chr16:16p13.3
pathogenic
GRCh37/hg19 16p13.3-13.13(chr16:85880-11209288)x3 copy number gain not provided [RCV000683743] Chr16:85880..11209288 [GRCh37]
Chr16:16p13.3-13.13
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3(chr16:1802232-1842516)x3 copy number gain not provided [RCV000738983] Chr16:1802232..1842516 [GRCh37]
Chr16:16p13.3
benign
GRCh37/hg19 16p13.3(chr16:1804357-1842516)x3 copy number gain not provided [RCV000738984] Chr16:1804357..1842516 [GRCh37]
Chr16:16p13.3
benign
GRCh37/hg19 16p13.3(chr16:1807896-1842516)x3 copy number gain not provided [RCV000738985] Chr16:1807896..1842516 [GRCh37]
Chr16:16p13.3
benign
GRCh37/hg19 16p13.3(chr16:1807896-2311160)x3 copy number gain not provided [RCV000738986] Chr16:1807896..2311160 [GRCh37]
Chr16:16p13.3
benign
GRCh37/hg19 16p13.3(chr16:1813658-1842516)x3 copy number gain not provided [RCV000738987] Chr16:1813658..1842516 [GRCh37]
Chr16:16p13.3
benign
GRCh37/hg19 16p13.3(chr16:1813658-1851148)x3 copy number gain not provided [RCV000738988] Chr16:1813658..1851148 [GRCh37]
Chr16:16p13.3
benign
GRCh37/hg19 16p13.3(chr16:1813658-2319717)x3 copy number gain not provided [RCV000738989] Chr16:1813658..2319717 [GRCh37]
Chr16:16p13.3
benign
GRCh37/hg19 16p13.3(chr16:1814391-1843672)x0 copy number loss not provided [RCV000738990] Chr16:1814391..1843672 [GRCh37]
Chr16:16p13.3
benign
GRCh37/hg19 16p13.3(chr16:1840777-1842454)x1 copy number loss not provided [RCV000738991] Chr16:1840777..1842454 [GRCh37]
Chr16:16p13.3
benign
GRCh37/hg19 16p13.3(chr16:1840777-1842516)x1 copy number loss not provided [RCV000738992] Chr16:1840777..1842516 [GRCh37]
Chr16:16p13.3
benign
GRCh37/hg19 16p13.3(chr16:1840903-1842454)x1 copy number loss not provided [RCV000738993] Chr16:1840903..1842454 [GRCh37]
Chr16:16p13.3
benign
GRCh37/hg19 16p13.3(chr16:1840903-1842516)x1 copy number loss not provided [RCV000738994] Chr16:1840903..1842516 [GRCh37]
Chr16:16p13.3
benign
NM_004970.2(IGFALS):c.1293G>A (p.Trp431Ter) single nucleotide variant not provided [RCV000760858] Chr16:1791125 [GRCh38]
Chr16:1841126 [GRCh37]
Chr16:16p13.3
likely pathogenic
NM_004970.3(IGFALS):c.1516G>A (p.Gly506Arg) single nucleotide variant Acid-labile subunit deficiency [RCV001120132]|not provided [RCV000973532] Chr16:1790902 [GRCh38]
Chr16:1840903 [GRCh37]
Chr16:16p13.3
benign|uncertain significance
NM_004970.3(IGFALS):c.1461G>T (p.Leu487=) single nucleotide variant not provided [RCV000883795] Chr16:1790957 [GRCh38]
Chr16:1840958 [GRCh37]
Chr16:16p13.3
benign
NM_004970.3(IGFALS):c.17-3C>T single nucleotide variant not provided [RCV000925962] Chr16:1792404 [GRCh38]
Chr16:1842405 [GRCh37]
Chr16:16p13.3
benign
NM_004970.3(IGFALS):c.264C>T (p.Ser88=) single nucleotide variant not provided [RCV000926235] Chr16:1792154 [GRCh38]
Chr16:1842155 [GRCh37]
Chr16:16p13.3
likely benign
NC_000016.9:g.(?_624055)_(2115656_?)del deletion Tuberous sclerosis 2 [RCV000811345] Chr16:624055..2115656 [GRCh37]
Chr16:16p13.3
pathogenic
GRCh37/hg19 16p13.3(chr16:109978-4316797) copy number gain Chromosome 16p13.3 duplication syndrome [RCV000767731] Chr16:109978..4316797 [GRCh37]
Chr16:16p13.3
pathogenic
NM_004970.3(IGFALS):c.450G>A (p.Ser150=) single nucleotide variant not provided [RCV000978456] Chr16:1791968 [GRCh38]
Chr16:1841969 [GRCh37]
Chr16:16p13.3
benign
NM_004970.3(IGFALS):c.300G>A (p.Leu100=) single nucleotide variant not provided [RCV000918358] Chr16:1792118 [GRCh38]
Chr16:1842119 [GRCh37]
Chr16:16p13.3
likely benign
NM_004970.3(IGFALS):c.1338C>T (p.Leu446=) single nucleotide variant not provided [RCV000924965] Chr16:1791080 [GRCh38]
Chr16:1841081 [GRCh37]
Chr16:16p13.3
likely benign
NM_004970.3(IGFALS):c.1569G>A (p.Pro523=) single nucleotide variant not provided [RCV000897732] Chr16:1790849 [GRCh38]
Chr16:1840850 [GRCh37]
Chr16:16p13.3
likely benign
NM_004970.3(IGFALS):c.1436G>A (p.Gly479Asp) single nucleotide variant Acid-labile subunit deficiency [RCV001120134]|not provided [RCV000891754] Chr16:1790982 [GRCh38]
Chr16:1840983 [GRCh37]
Chr16:16p13.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NC_000016.10:g.(?_1523498)_(2064447_?)del deletion Tuberous sclerosis 2 [RCV001032344] Chr16:1573499..2114448 [GRCh37]
Chr16:16p13.3
pathogenic
NM_004970.3(IGFALS):c.444G>A (p.Leu148=) single nucleotide variant Acid-labile subunit deficiency [RCV001116949] Chr16:1791974 [GRCh38]
Chr16:1841975 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_004970.3(IGFALS):c.1779C>G (p.Asp593Glu) single nucleotide variant Acid-labile subunit deficiency [RCV001118592] Chr16:1790639 [GRCh38]
Chr16:1840640 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_004970.3(IGFALS):c.1526G>A (p.Arg509His) single nucleotide variant not provided [RCV000916248] Chr16:1790892 [GRCh38]
Chr16:1840893 [GRCh37]
Chr16:16p13.3
likely benign
NM_004970.3(IGFALS):c.1492C>T (p.Pro498Ser) single nucleotide variant not provided [RCV000897971] Chr16:1790926 [GRCh38]
Chr16:1840927 [GRCh37]
Chr16:16p13.3
likely benign
NM_004970.3(IGFALS):c.654C>G (p.Ala218=) single nucleotide variant Acid-labile subunit deficiency [RCV001116947] Chr16:1791764 [GRCh38]
Chr16:1841765 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_004970.3(IGFALS):c.1787A>G (p.Asp596Gly) single nucleotide variant Acid-labile subunit deficiency [RCV001118591] Chr16:1790631 [GRCh38]
Chr16:1840632 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_004970.3(IGFALS):c.1697G>A (p.Cys566Tyr) single nucleotide variant Acid-labile subunit deficiency [RCV001118593] Chr16:1790721 [GRCh38]
Chr16:1840722 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_004970.3(IGFALS):c.1357C>G (p.Leu453Val) single nucleotide variant Acid-labile subunit deficiency [RCV001120415] Chr16:1791061 [GRCh38]
Chr16:1841062 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_004970.3(IGFALS):c.*83G>A single nucleotide variant Acid-labile subunit deficiency [RCV001115426] Chr16:1790517 [GRCh38]
Chr16:1840518 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_004970.3(IGFALS):c.*35C>G single nucleotide variant Acid-labile subunit deficiency [RCV001115429] Chr16:1790565 [GRCh38]
Chr16:1840566 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_004970.3(IGFALS):c.*23C>T single nucleotide variant Acid-labile subunit deficiency [RCV001115430] Chr16:1790577 [GRCh38]
Chr16:1840578 [GRCh37]
Chr16:16p13.3
uncertain significance
GRCh37/hg19 16p13.3(chr16:1727095-1947413)x3 copy number gain not provided [RCV000845877] Chr16:1727095..1947413 [GRCh37]
Chr16:16p13.3
uncertain significance
GRCh37/hg19 16p13.3(chr16:85880-2053328)x1 copy number loss not provided [RCV000849039] Chr16:85880..2053328 [GRCh37]
Chr16:16p13.3
pathogenic
Single allele inversion Hereditary cancer-predisposing syndrome [RCV000850149] Chr16:1566500..2119769 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_004970.3(IGFALS):c.708C>T (p.Asn236=) single nucleotide variant not provided [RCV000969666] Chr16:1791710 [GRCh38]
Chr16:1841711 [GRCh37]
Chr16:16p13.3
benign
NM_004970.3(IGFALS):c.813G>C (p.Leu271=) single nucleotide variant not provided [RCV000909997] Chr16:1791605 [GRCh38]
Chr16:1841606 [GRCh37]
Chr16:16p13.3
benign
NM_004970.3(IGFALS):c.17-10dup duplication not provided [RCV000887040] Chr16:1792405..1792406 [GRCh38]
Chr16:1842406..1842407 [GRCh37]
Chr16:16p13.3
pathogenic|benign
NM_004970.3(IGFALS):c.34C>T (p.Leu12=) single nucleotide variant not provided [RCV000940399] Chr16:1792384 [GRCh38]
Chr16:1842385 [GRCh37]
Chr16:16p13.3
likely benign
NM_004970.3(IGFALS):c.860C>T (p.Pro287Leu) single nucleotide variant Acid-labile subunit deficiency [RCV001115523]|not provided [RCV000954991] Chr16:1791558 [GRCh38]
Chr16:1841559 [GRCh37]
Chr16:16p13.3
likely benign|uncertain significance
NC_000016.9:g.(?_624055)_(2550979_?)dup duplication Idiopathic generalized epilepsy [RCV001033790] Chr16:624055..2550979 [GRCh37]
Chr16:16p13.3
uncertain significance
NC_000016.9:g.(?_624055)_(2148005_?)del deletion Tuberous sclerosis 2 [RCV001033183] Chr16:624055..2148005 [GRCh37]
Chr16:16p13.3
pathogenic
NM_004970.3(IGFALS):c.*73T>C single nucleotide variant Acid-labile subunit deficiency [RCV001115427] Chr16:1790527 [GRCh38]
Chr16:1840528 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_004970.3(IGFALS):c.*50T>C single nucleotide variant Acid-labile subunit deficiency [RCV001115428] Chr16:1790550 [GRCh38]
Chr16:1840551 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_004970.3(IGFALS):c.606G>A (p.Ala202=) single nucleotide variant Acid-labile subunit deficiency [RCV001116948] Chr16:1791812 [GRCh38]
Chr16:1841813 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_004970.3(IGFALS):c.351G>A (p.Ala117=) single nucleotide variant not provided [RCV000889244] Chr16:1792067 [GRCh38]
Chr16:1842068 [GRCh37]
Chr16:16p13.3
likely benign
NM_004970.3(IGFALS):c.1406G>A (p.Arg469His) single nucleotide variant Acid-labile subunit deficiency [RCV001120414]|not provided [RCV000913366] Chr16:1791012 [GRCh38]
Chr16:1841013 [GRCh37]
Chr16:16p13.3
likely benign|uncertain significance
NM_004970.3(IGFALS):c.958C>T (p.Gln320Ter) single nucleotide variant Acid-labile subunit deficiency [RCV000989410] Chr16:1791460 [GRCh38]
Chr16:1841461 [GRCh37]
Chr16:16p13.3
benign
NM_004970.3(IGFALS):c.1488A>G (p.Ala496=) single nucleotide variant Acid-labile subunit deficiency [RCV001120133] Chr16:1790930 [GRCh38]
Chr16:1840931 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_004970.3(IGFALS):c.154G>A (p.Asp52Asn) single nucleotide variant Acid-labile subunit deficiency [RCV001120523] Chr16:1792264 [GRCh38]
Chr16:1842265 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_004970.3(IGFALS):c.1133C>T (p.Pro378Leu) single nucleotide variant Acid-labile subunit deficiency [RCV001120416] Chr16:1791285 [GRCh38]
Chr16:1841286 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_004970.3(IGFALS):c.1651G>A (p.Ala551Thr) single nucleotide variant Acid-labile subunit deficiency [RCV001118594] Chr16:1790767 [GRCh38]
Chr16:1840768 [GRCh37]
Chr16:16p13.3
uncertain significance
NC_000016.9:g.(?_1203718)_(2185710_?)del deletion Tuberous sclerosis 2 [RCV001033886] Chr16:1203718..2185710 [GRCh37]
Chr16:16p13.3
pathogenic
NM_004970.3(IGFALS):c.1777G>A (p.Asp593Asn) single nucleotide variant Acid-labile subunit deficiency [RCV001253056] Chr16:1790641 [GRCh38]
Chr16:1840642 [GRCh37]
Chr16:16p13.3
uncertain significance
GRCh37/hg19 16p13.3(chr16:84485-5251013)x3 copy number gain not provided [RCV001537890] Chr16:84485..5251013 [GRCh37]
Chr16:16p13.3
pathogenic
NM_004970.3(IGFALS):c.152del (p.Asp51fs) deletion Acid-labile subunit deficiency [RCV001292674] Chr16:1792266 [GRCh38]
Chr16:1842267 [GRCh37]
Chr16:16p13.3
pathogenic
GRCh37/hg19 16p13.3(chr16:85880-5249457)x3 copy number gain not provided [RCV001259749] Chr16:85880..5249457 [GRCh37]
Chr16:16p13.3
pathogenic
NM_004970.3(IGFALS):c.260C>T (p.Ser87Leu) single nucleotide variant Acid-labile subunit deficiency [RCV001333326] Chr16:1792158 [GRCh38]
Chr16:1842159 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_004970.3(IGFALS):c.1094C>T (p.Ala365Val) single nucleotide variant Acid-labile subunit deficiency [RCV001329985] Chr16:1791324 [GRCh38]
Chr16:1841325 [GRCh37]
Chr16:16p13.3
uncertain significance
NC_000016.9:g.(?_624055)_(2153916_?)dup duplication Epilepsy [RCV001344085]|Idiopathic generalized epilepsy [RCV001316565] Chr16:624055..2153916 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_004970.3(IGFALS):c.103dup (p.Glu35fs) duplication not provided [RCV001379862] Chr16:1792314..1792315 [GRCh38]
Chr16:1842315..1842316 [GRCh37]
Chr16:16p13.3
likely pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:5468 AgrOrtholog
COSMIC IGFALS COSMIC
Ensembl Genes ENSG00000099769 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000215539 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000416683 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000456923 UniProtKB/TrEMBL
Ensembl Transcript ENST00000215539 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000415638 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000568221 UniProtKB/TrEMBL
Gene3D-CATH 3.80.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000099769 GTEx
HGNC ID HGNC:5468 ENTREZGENE
Human Proteome Map IGFALS Human Proteome Map
InterPro Cys-rich_flank_reg_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Leu-rich_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Leu-rich_rpt_typical-subtyp UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LRR_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LRRNT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3483 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 3483 ENTREZGENE
OMIM 601489 OMIM
  615961 OMIM
Pfam LRR_8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LRRNT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA29702 PharmGKB
PROSITE LRR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART LRR_TYP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LRRCT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LRRNT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt ALS_HUMAN UniProtKB/Swiss-Prot
  H3BSX8_HUMAN UniProtKB/TrEMBL
  P35858 ENTREZGENE
  Q8TAY0 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary B4DZY8 UniProtKB/Swiss-Prot
  E9PGU3 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-01 IGFALS  insulin like growth factor binding protein acid labile subunit    insulin-like growth factor binding protein, acid labile subunit  Symbol and/or name change 5135510 APPROVED
2011-08-16 IGFALS  insulin-like growth factor binding protein, acid labile subunit  IGFALS  insulin-like growth factor binding protein, acid labile subunit  Symbol and/or name change 5135510 APPROVED