IFT140 (intraflagellar transport 140) - Rat Genome Database

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Gene: IFT140 (intraflagellar transport 140) Homo sapiens
Analyze
Symbol: IFT140
Name: intraflagellar transport 140
RGD ID: 1605413
HGNC Page HGNC
Description: Involved in cilium assembly; intraciliary retrograde transport; and regulation of cilium assembly. Acts upstream of or within protein localization to cilium. Located in centrosome and ciliary basal body. Part of intraciliary transport particle A. Implicated in retinitis pigmentosa and short-rib thoracic dysplasia 9 with or without polydactyly.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: c305C8.4; c380F5.1; DKFZp564L232; FLJ10306; FLJ30571; gs114; intraflagellar transport 140 homolog; intraflagellar transport protein 140 homolog; KIAA0590; MZSDS; RP80; SRTD9; WD and tetratricopeptide repeats 2; WD and tetratricopeptide repeats protein 2; WDTC2
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 Ensembl161,510,427 - 1,612,072 (-)EnsemblGRCh38hg38GRCh38
GRCh38161,510,427 - 1,612,072 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37161,560,428 - 1,662,073 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36161,500,431 - 1,597,299 (-)NCBINCBI36hg18NCBI36
Celera161,772,703 - 1,874,383 (-)NCBI
Cytogenetic Map16p13.3NCBI
HuRef161,486,013 - 1,587,550 (-)NCBIHuRef
CHM1_1161,560,388 - 1,662,050 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal clavicle morphology  (IAGP)
Abnormal electroretinogram  (IAGP)
Abnormal retinal vascular morphology  (IAGP)
Abnormal sternum morphology  (IAGP)
Abnormal testis morphology  (IAGP)
Abnormality of neuronal migration  (IAGP)
Abnormality of pelvic girdle bone morphology  (IAGP)
Abnormality of retinal pigmentation  (IAGP)
Abnormality of the liver  (IAGP)
Abnormality of the metaphysis  (IAGP)
Abnormality of the optic disc  (IAGP)
Abnormality of the ribs  (IAGP)
Accessory oral frenulum  (IAGP)
Anemia  (IAGP)
Anteverted nares  (IAGP)
Aplasia/Hypoplasia of the cerebellar vermis  (IAGP)
Aplasia/Hypoplasia of the lungs  (IAGP)
Ataxia  (IAGP)
Atypical scarring of skin  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bifid uvula  (IAGP)
Blindness  (IAGP)
Brachydactyly  (IAGP)
Cataract  (IAGP)
Cholestasis  (IAGP)
Cognitive impairment  (IAGP)
Conductive hearing impairment  (IAGP)
Cone-shaped epiphyses of the phalanges of the hand  (IAGP)
Cone-shaped epiphysis  (IAGP)
Craniosynostosis  (IAGP)
Encephalocele  (IAGP)
Feeding difficulties in infancy  (IAGP)
Frontal bossing  (IAGP)
Glaucoma  (IAGP)
Global developmental delay  (IAGP)
Hearing impairment  (IAGP)
Hemiplegia/hemiparesis  (IAGP)
Hepatic fibrosis  (IAGP)
Hepatomegaly  (IAGP)
High palate  (IAGP)
Hyperinsulinemia  (IAGP)
Hyperreflexia  (IAGP)
Hypogonadism  (IAGP)
Hypoplasia of penis  (IAGP)
Hypoplasia of the capital femoral epiphysis  (IAGP)
Hypotonia  (IAGP)
Infantile onset  (IAGP)
Intellectual disability  (IAGP)
Keratoconus  (IAGP)
Macroglossia  (IAGP)
Macular atrophy  (IAGP)
Microcephaly  (IAGP)
Microdontia  (IAGP)
Micromelia  (IAGP)
Narrow chest  (IAGP)
Narrow forehead  (IAGP)
Nephronophthisis  (IAGP)
Nephropathy  (IAGP)
Nystagmus  (IAGP)
Obesity  (IAGP)
Ophthalmoplegia  (IAGP)
Optic atrophy  (IAGP)
Photophobia  (IAGP)
Postaxial foot polydactyly  (IAGP)
Postaxial hand polydactyly  (IAGP)
Progressive night blindness  (IAGP)
Progressive visual loss  (IAGP)
Prominent forehead  (IAGP)
Renal cyst  (IAGP)
Renal dysplasia  (IAGP)
Renal insufficiency  (IAGP)
Respiratory insufficiency  (IAGP)
Retinal dystrophy  (IAGP)
Rod-cone dystrophy  (IAGP)
Scaphocephaly  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Severely reduced visual acuity  (IAGP)
Short femoral neck  (IAGP)
Short foot  (IAGP)
Short phalanx of finger  (IAGP)
Short ribs  (IAGP)
Short stature  (IAGP)
Short thorax  (IAGP)
Skeletal dysplasia  (IAGP)
Stage 5 chronic kidney disease  (IAGP)
Toe syndactyly  (IAGP)
Trigonocephaly  (IAGP)
Type II diabetes mellitus  (IAGP)
Visual loss  (IAGP)
Wide mouth  (IAGP)
Wide nasal bridge  (IAGP)
Widely spaced teeth  (IAGP)
References

Additional References at PubMed
PMID:9628581   PMID:11157797   PMID:12421765   PMID:12477932   PMID:14702039   PMID:15489334   PMID:20301590   PMID:20889716   PMID:20936779   PMID:21873635   PMID:21900206   PMID:22282595  
PMID:22503633   PMID:23418020   PMID:24027799   PMID:24698627   PMID:25515538   PMID:25814554   PMID:26186194   PMID:26216056   PMID:26359340   PMID:26968735   PMID:27173435   PMID:27874174  
PMID:27932497   PMID:28514442   PMID:28724397   PMID:29111861   PMID:29220510   PMID:29688594   PMID:30285347   PMID:31034313   PMID:31397098   PMID:31753913   PMID:33187986  


Genomics

Comparative Map Data
IFT140
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl161,510,427 - 1,612,072 (-)EnsemblGRCh38hg38GRCh38
GRCh38161,510,427 - 1,612,072 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37161,560,428 - 1,662,073 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36161,500,431 - 1,597,299 (-)NCBINCBI36hg18NCBI36
Celera161,772,703 - 1,874,383 (-)NCBI
Cytogenetic Map16p13.3NCBI
HuRef161,486,013 - 1,587,550 (-)NCBIHuRef
CHM1_1161,560,388 - 1,662,050 (-)NCBICHM1_1
Ift140
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391725,235,056 - 25,318,473 (+)NCBIGRCm39mm39
GRCm39 Ensembl1725,235,059 - 25,318,469 (+)Ensembl
GRCm381725,016,083 - 25,099,499 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1725,016,085 - 25,099,495 (+)EnsemblGRCm38mm10GRCm38
MGSCv371725,153,031 - 25,236,444 (+)NCBIGRCm37mm9NCBIm37
MGSCv361724,744,323 - 24,827,086 (+)NCBImm8
Celera1725,543,013 - 25,624,378 (+)NCBICelera
Cytogenetic Map17A3.3NCBI
Ift140
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21014,032,665 - 14,121,682 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl1014,032,648 - 14,120,433 (+)Ensembl
Rnor_6.01014,373,668 - 14,461,509 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1014,373,679 - 14,461,160 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01014,189,328 - 14,276,940 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41014,258,556 - 14,348,468 (+)NCBIRGSC3.4rn4RGSC3.4
Celera1013,711,169 - 13,793,096 (+)NCBICelera
Cytogenetic Map10q12NCBI
Ift140
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544215,630,501 - 15,718,484 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495544215,625,429 - 15,719,006 (+)NCBIChiLan1.0ChiLan1.0
IFT140
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1161,566,309 - 1,662,833 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl161,566,824 - 1,658,884 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v016130,150 - 232,369 (-)NCBIMhudiblu_PPA_v0panPan3
IFT140
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1639,262,887 - 39,308,912 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl639,295,045 - 39,308,758 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha640,497,349 - 40,577,227 (+)NCBI
ROS_Cfam_1.0639,574,931 - 39,655,255 (+)NCBI
UMICH_Zoey_3.1639,252,090 - 39,332,397 (+)NCBI
UNSW_CanFamBas_1.0639,224,274 - 39,304,564 (+)NCBI
UU_Cfam_GSD_1.0639,702,970 - 39,783,289 (+)NCBI
Ift140
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344104,290,046 - 104,364,999 (-)NCBI
SpeTri2.0NW_0049366942,344,448 - 2,419,396 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
IFT140
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl340,309,651 - 40,372,136 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1340,309,298 - 40,372,139 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2341,776,363 - 41,835,312 (+)NCBISscrofa10.2Sscrofa10.2susScr3
IFT140
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.151,419,432 - 1,523,342 (-)NCBI
ChlSab1.1 Ensembl51,415,664 - 1,521,843 (-)Ensembl
Vero_WHO_p1.0NW_02366606829,562,562 - 29,667,409 (+)NCBI
Ift140
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624913616,283 - 712,040 (+)NCBI

Position Markers
D16S3024  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37161,654,203 - 1,654,429UniSTSGRCh37
Build 36161,594,204 - 1,594,430RGDNCBI36
Celera161,866,477 - 1,866,703RGD
Celera16228,301 - 228,539UniSTS
Cytogenetic Map16p13.3UniSTS
HuRef161,579,640 - 1,579,871UniSTS
Marshfield Genetic Map167.05RGD
Marshfield Genetic Map167.05UniSTS
Genethon Genetic Map165.0UniSTS
GeneMap99-GB4 RH Map1635.15UniSTS
RH93126  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37161,560,562 - 1,560,700UniSTSGRCh37
Build 36161,500,563 - 1,500,701RGDNCBI36
Celera161,772,837 - 1,772,975RGD
Cytogenetic Map16p13.3UniSTS
HuRef161,486,147 - 1,486,285UniSTS
GeneMap99-GB4 RH Map1645.24UniSTS
STS-AA025090  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37161,560,195 - 1,560,444UniSTSGRCh37
Build 36161,500,196 - 1,500,445RGDNCBI36
Celera161,772,470 - 1,772,719RGD
Cytogenetic Map16p13.3UniSTS
HuRef161,485,780 - 1,486,029UniSTS
GeneMap99-GB4 RH Map1666.71UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3623
Count of miRNA genes:1087
Interacting mature miRNAs:1364
Transcripts:ENST00000361339, ENST00000397417, ENST00000426508, ENST00000439987, ENST00000561954, ENST00000565298, ENST00000566052, ENST00000566818, ENST00000568837, ENST00000569646, ENST00000569812
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1421 820 1204 101 112 31 2141 741 1911 206 1301 1390 77 445 1407
Low 1018 1916 518 519 1586 430 2215 1448 1823 213 159 222 98 1 759 1381 5 2
Below cutoff 254 4 4 252 4 7

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_032783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014714 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005255725 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005255726 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006720990 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006720991 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006720992 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011522766 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011522767 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011522769 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011522771 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011522772 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017023910 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017023911 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB011162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AE006467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AE006639 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001168 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001797 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK055133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299035 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL031705 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL031719 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL031720 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL080069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL133297 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW245075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC035577 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC401677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z97633 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z97652 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000361339   ⟹   ENSP00000354895
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl161,510,427 - 1,533,494 (-)Ensembl
RefSeq Acc Id: ENST00000397417   ⟹   ENSP00000380562
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl161,510,430 - 1,610,693 (-)Ensembl
RefSeq Acc Id: ENST00000426508   ⟹   ENSP00000406012
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl161,510,427 - 1,612,072 (-)Ensembl
RefSeq Acc Id: ENST00000439987
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl161,553,921 - 1,610,693 (-)Ensembl
RefSeq Acc Id: ENST00000561954
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl161,557,555 - 1,564,110 (-)Ensembl
RefSeq Acc Id: ENST00000565298
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl161,510,430 - 1,584,263 (-)Ensembl
RefSeq Acc Id: ENST00000566052
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl161,602,267 - 1,610,704 (-)Ensembl
RefSeq Acc Id: ENST00000566818
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl161,524,774 - 1,527,024 (-)Ensembl
RefSeq Acc Id: ENST00000568837   ⟹   ENSP00000458439
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl161,518,102 - 1,520,038 (-)Ensembl
RefSeq Acc Id: ENST00000569646   ⟹   ENSP00000454781
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl161,602,377 - 1,610,666 (-)Ensembl
RefSeq Acc Id: ENST00000569812   ⟹   ENSP00000457092
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl161,602,398 - 1,610,044 (-)Ensembl
RefSeq Acc Id: NM_014714   ⟹   NP_055529
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38161,510,427 - 1,612,072 (-)NCBI
GRCh37161,560,428 - 1,662,109 (-)RGD
GRCh37161,560,428 - 1,662,109 (-)NCBI
Build 36161,500,431 - 1,597,299 (-)NCBI Archive
Celera161,772,703 - 1,874,383 (-)RGD
HuRef161,486,013 - 1,587,550 (-)ENTREZGENE
CHM1_1161,560,388 - 1,662,050 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005255725   ⟹   XP_005255782
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38161,540,761 - 1,610,704 (-)NCBI
GRCh37161,560,428 - 1,662,109 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005255726   ⟹   XP_005255783
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38161,552,946 - 1,610,704 (-)NCBI
GRCh37161,560,428 - 1,662,109 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006720990   ⟹   XP_006721053
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38161,510,427 - 1,610,665 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006720991   ⟹   XP_006721054
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38161,510,427 - 1,609,839 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006720992   ⟹   XP_006721055
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38161,510,427 - 1,530,143 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011522766   ⟹   XP_011521068
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38161,510,427 - 1,610,704 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011522767   ⟹   XP_011521069
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38161,510,427 - 1,587,185 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011522769   ⟹   XP_011521071
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38161,556,106 - 1,610,704 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011522771   ⟹   XP_011521073
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38161,536,487 - 1,610,704 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011522772   ⟹   XP_011521074
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38161,538,123 - 1,610,704 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017023910   ⟹   XP_016879399
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38161,510,427 - 1,608,080 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017023911   ⟹   XP_016879400
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38161,510,427 - 1,607,297 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_055529   ⟸   NM_014714
- UniProtKB: Q96RY7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005255782   ⟸   XM_005255725
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_005255783   ⟸   XM_005255726
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: XP_006721053   ⟸   XM_006720990
- Peptide Label: isoform X1
- UniProtKB: Q96RY7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006721054   ⟸   XM_006720991
- Peptide Label: isoform X1
- UniProtKB: Q96RY7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006721055   ⟸   XM_006720992
- Peptide Label: isoform X10
- Sequence:
RefSeq Acc Id: XP_011521068   ⟸   XM_011522766
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011521069   ⟸   XM_011522767
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011521073   ⟸   XM_011522771
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_011521074   ⟸   XM_011522772
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_011521071   ⟸   XM_011522769
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_016879399   ⟸   XM_017023910
- Peptide Label: isoform X1
- UniProtKB: Q96RY7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016879400   ⟸   XM_017023911
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: ENSP00000454781   ⟸   ENST00000569646
RefSeq Acc Id: ENSP00000457092   ⟸   ENST00000569812
RefSeq Acc Id: ENSP00000406012   ⟸   ENST00000426508
RefSeq Acc Id: ENSP00000354895   ⟸   ENST00000361339
RefSeq Acc Id: ENSP00000380562   ⟸   ENST00000397417
RefSeq Acc Id: ENSP00000458439   ⟸   ENST00000568837
Protein Domains
ANAPC4_WD40

Promoters
RGD ID:6793187
Promoter ID:HG_KWN:22712
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000397417
Position:
Human AssemblyChrPosition (strand)Source
Build 36161,600,514 - 1,601,014 (-)MPROMDB
RGD ID:6793078
Promoter ID:HG_KWN:22713
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000293924,   NM_014714
Position:
Human AssemblyChrPosition (strand)Source
Build 36161,601,986 - 1,602,517 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_014714.4(IFT140):c.3584T>C (p.Ile1195Thr) single nucleotide variant Saldino-Mainzer syndrome [RCV000524778] Chr16:1520678 [GRCh38]
Chr16:1570679 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_014714.4(IFT140):c.903-5T>G single nucleotide variant Retinitis pigmentosa 80 [RCV001376491]|Saldino-Mainzer syndrome [RCV001121926]|not provided [RCV000520573] Chr16:1587309 [GRCh38]
Chr16:1637310 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_014714.4(IFT140):c.3360G>A (p.Thr1120=) single nucleotide variant Saldino-Mainzer syndrome [RCV001394569] Chr16:1523611 [GRCh38]
Chr16:1573612 [GRCh37]
Chr16:16p13.3
likely benign
NM_014714.4(IFT140):c.1990G>A (p.Glu664Lys) single nucleotide variant Retinitis pigmentosa 80 [RCV000515561]|Saldino-Mainzer syndrome [RCV000024359] Chr16:1564074 [GRCh38]
Chr16:1614075 [GRCh37]
Chr16:16p13.3
pathogenic
NM_014714.4(IFT140):c.2399+1G>T single nucleotide variant Retinal dystrophy [RCV001075306]|Retinitis pigmentosa 80 [RCV000515584]|Saldino-Mainzer syndrome [RCV000024360]|Saldino-Mainzer syndrome [RCV001536095] Chr16:1557934 [GRCh38]
Chr16:1607935 [GRCh37]
Chr16:16p13.3
pathogenic
NM_014714.4(IFT140):c.932A>G (p.Tyr311Cys) single nucleotide variant Saldino-Mainzer syndrome [RCV000024361] Chr16:1587275 [GRCh38]
Chr16:1637276 [GRCh37]
Chr16:16p13.3
pathogenic
NM_014714.4(IFT140):c.857_860del (p.Ile286fs) microsatellite Saldino-Mainzer syndrome [RCV000024362] Chr16:1587975..1587978 [GRCh38]
Chr16:1637976..1637979 [GRCh37]
Chr16:16p13.3
pathogenic
NM_014714.4(IFT140):c.634G>A (p.Gly212Arg) single nucleotide variant Jeune thoracic dystrophy [RCV000515934]|Nephronophthisis [RCV001328311]|Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene [RCV000626465]|Saldino-Mainzer syndrome [RCV000024363]|Saldino-Mainzer syndrome [RCV001249674]|not provided [RCV000255441] Chr16:1592176 [GRCh38]
Chr16:1642177 [GRCh37]
Chr16:16p13.3
pathogenic|likely pathogenic
NM_014714.4(IFT140):c.3916dup (p.Ala1306fs) duplication Jeune thoracic dystrophy [RCV000515983]|Saldino-Mainzer syndrome [RCV000024364] Chr16:1520004..1520005 [GRCh38]
Chr16:1570005..1570006 [GRCh37]
Chr16:16p13.3
pathogenic|likely pathogenic
NM_014714.4(IFT140):c.128T>C (p.Val43Ala) single nucleotide variant Saldino-Mainzer syndrome [RCV000641163] Chr16:1607139 [GRCh38]
Chr16:1657140 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_014714.4(IFT140):c.903-1G>A single nucleotide variant not provided [RCV000722196] Chr16:1587305 [GRCh38]
Chr16:1637306 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_014714.4(IFT140):c.4236_4239dup (p.Tyr1414fs) duplication Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene [RCV000626466] Chr16:1511093..1511094 [GRCh38]
Chr16:1561094..1561095 [GRCh37]
Chr16:16p13.3
pathogenic
NM_014714.4(IFT140):c.4036C>T (p.Arg1346Cys) single nucleotide variant not provided [RCV000727914] Chr16:1519885 [GRCh38]
Chr16:1569886 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_014714.4(IFT140):c.557G>A (p.Trp186Ter) single nucleotide variant not provided [RCV000723159] Chr16:1592253 [GRCh38]
Chr16:1642254 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_014714.4(IFT140):c.3532A>G (p.Lys1178Glu) single nucleotide variant not provided [RCV000518976] Chr16:1520730 [GRCh38]
Chr16:1570731 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_014714.4(IFT140):c.2360A>G (p.Asp787Gly) single nucleotide variant Saldino-Mainzer syndrome [RCV000813538]|not provided [RCV000728408] Chr16:1557974 [GRCh38]
Chr16:1607975 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_014714.4(IFT140):c.322G>A (p.Val108Met) single nucleotide variant Saldino-Mainzer syndrome [RCV000550836]|not specified [RCV000595068] Chr16:1602417 [GRCh38]
Chr16:1652418 [GRCh37]
Chr16:16p13.3
benign
NM_014714.4(IFT140):c.1200C>T (p.Ser400=) single nucleotide variant not provided [RCV000544737] Chr16:1584376 [GRCh38]
Chr16:1634377 [GRCh37]
Chr16:16p13.3
benign
NM_014714.4(IFT140):c.2914G>A (p.Asp972Asn) single nucleotide variant not provided [RCV000522436] Chr16:1524867 [GRCh38]
Chr16:1574868 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_014714.4(IFT140):c.4078T>C (p.Cys1360Arg) single nucleotide variant Saldino-Mainzer syndrome [RCV000083296] Chr16:1518320 [GRCh38]
Chr16:1568321 [GRCh37]
Chr16:16p13.3
pathogenic
NM_014714.4(IFT140):c.874G>A (p.Val292Met) single nucleotide variant Jeune thoracic dystrophy [RCV000515922]|Saldino-Mainzer syndrome [RCV000083297]|Saldino-Mainzer syndrome [RCV000626469] Chr16:1587961 [GRCh38]
Chr16:1637962 [GRCh37]
Chr16:16p13.3
pathogenic|likely pathogenic
NM_014714.4(IFT140):c.1565G>A (p.Gly522Glu) single nucleotide variant Retinal dystrophy [RCV001075445]|Retinitis pigmentosa 80 [RCV001542691]|Saldino-Mainzer syndrome [RCV000626462]|Short-rib thoracic dysplasia without polydactyly [RCV000083298]|not provided [RCV001268554] Chr16:1571494 [GRCh38]
Chr16:1621495 [GRCh37]
Chr16:16p13.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_014714.4(IFT140):c.1380del (p.Asn460fs) deletion Short-rib thoracic dysplasia without polydactyly [RCV000083299] Chr16:1583366 [GRCh38]
Chr16:1633367 [GRCh37]
Chr16:16p13.3
pathogenic
NM_014714.4(IFT140):c.4272C>A (p.His1424Gln) single nucleotide variant Saldino-Mainzer syndrome [RCV001211917] Chr16:1511061 [GRCh38]
Chr16:1561062 [GRCh37]
Chr16:16p13.3
uncertain significance
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(chr16:23141-1773349)x1 copy number loss See cases [RCV000053251] Chr16:23141..1773349 [GRCh38]
Chr16:73141..1823350 [GRCh37]
Chr16:13141..1763351 [NCBI36]
Chr16:16p13.3
pathogenic
GRCh38/hg38 16p13.3(chr16:23141-1712523)x1 copy number loss See cases [RCV000053252] Chr16:23141..1712523 [GRCh38]
Chr16:73141..1762524 [GRCh37]
Chr16:13141..1702525 [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
NM_014714.3(IFT140):c.696G>A (p.Thr232=) single nucleotide variant Malignant melanoma [RCV000062968] Chr16:1589719 [GRCh38]
Chr16:1639720 [GRCh37]
Chr16:1579721 [NCBI36]
Chr16:16p13.3
not provided
NM_014714.4(IFT140):c.1192G>A (p.Val398Ile) single nucleotide variant Saldino-Mainzer syndrome [RCV000385144]|not specified [RCV000117256] Chr16:1584384 [GRCh38]
Chr16:1634385 [GRCh37]
Chr16:16p13.3
benign|likely benign
NM_014714.4(IFT140):c.1968T>C (p.Ser656=) single nucleotide variant Retinitis pigmentosa 80 [RCV001544457]|Saldino-Mainzer syndrome [RCV000339245]|not specified [RCV000117257] Chr16:1564096 [GRCh38]
Chr16:1614097 [GRCh37]
Chr16:16p13.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_014714.4(IFT140):c.2253T>C (p.Pro751=) single nucleotide variant Retinitis pigmentosa 80 [RCV001544456]|Saldino-Mainzer syndrome [RCV000383469]|not specified [RCV000117258] Chr16:1558081 [GRCh38]
Chr16:1608082 [GRCh37]
Chr16:16p13.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_014714.4(IFT140):c.2919C>T (p.Ala973=) single nucleotide variant Retinitis pigmentosa 80 [RCV001544453]|Saldino-Mainzer syndrome [RCV000315262]|not specified [RCV000117259] Chr16:1524862 [GRCh38]
Chr16:1574863 [GRCh37]
Chr16:16p13.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_014714.4(IFT140):c.3209C>T (p.Ala1070Val) single nucleotide variant Saldino-Mainzer syndrome [RCV000288955]|not specified [RCV000117260] Chr16:1523889 [GRCh38]
Chr16:1573890 [GRCh37]
Chr16:16p13.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_014714.4(IFT140):c.836G>C (p.Arg279Pro) single nucleotide variant Saldino-Mainzer syndrome [RCV000313052]|not provided [RCV001573082]|not specified [RCV000117261] Chr16:1587999 [GRCh38]
Chr16:1638000 [GRCh37]
Chr16:16p13.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_014714.4(IFT140):c.1030G>A (p.Asp344Asn) single nucleotide variant Saldino-Mainzer syndrome [RCV001367739] Chr16:1586255 [GRCh38]
Chr16:1636256 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_014714.4(IFT140):c.1336A>G (p.Ile446Val) single nucleotide variant Saldino-Mainzer syndrome [RCV000270811]|not specified [RCV000174127] Chr16:1584240 [GRCh38]
Chr16:1634241 [GRCh37]
Chr16:16p13.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014714.4(IFT140):c.1871C>T (p.Thr624Met) single nucleotide variant Saldino-Mainzer syndrome [RCV001312846] Chr16:1566191 [GRCh38]
Chr16:1616192 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_014714.4(IFT140):c.4040+10C>T single nucleotide variant Saldino-Mainzer syndrome [RCV000267875]|not specified [RCV000176938] Chr16:1519871 [GRCh38]
Chr16:1569872 [GRCh37]
Chr16:16p13.3
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014714.4(IFT140):c.3991C>T (p.Gln1331Ter) single nucleotide variant not provided [RCV000176940] Chr16:1519930 [GRCh38]
Chr16:1569931 [GRCh37]
Chr16:16p13.3
pathogenic
NM_014714.4(IFT140):c.4362G>T (p.Val1454=) single nucleotide variant Saldino-Mainzer syndrome [RCV001493934] Chr16:1510971 [GRCh38]
Chr16:1560972 [GRCh37]
Chr16:16p13.3
likely benign
NM_014714.4(IFT140):c.3827G>A (p.Gly1276Glu) single nucleotide variant Retinitis pigmentosa [RCV000201484] Chr16:1520177 [GRCh38]
Chr16:1570178 [GRCh37]
Chr16:16p13.3
pathogenic
NM_014714.4(IFT140):c.2199G>A (p.Lys733=) single nucleotide variant Saldino-Mainzer syndrome [RCV001348596] Chr16:1561985 [GRCh38]
Chr16:1611986 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_014714.4(IFT140):c.215C>T (p.Thr72Met) single nucleotide variant Saldino-Mainzer syndrome [RCV001303056] Chr16:1602524 [GRCh38]
Chr16:1652525 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_014714.4(IFT140):c.570T>G (p.Ser190Arg) single nucleotide variant Saldino-Mainzer syndrome [RCV001348198] Chr16:1592240 [GRCh38]
Chr16:1642241 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_014714.3:c.151delG deletion Retinitis pigmentosa 80 [RCV001331878] Chr16:1602588 [GRCh38]
Chr16:1652589 [GRCh37]
Chr16:16p13.3
pathogenic
NM_014714.4(IFT140):c.1720T>C (p.Ser574Pro) single nucleotide variant Saldino-Mainzer syndrome [RCV001312705] Chr16:1568267 [GRCh38]
Chr16:1618268 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_014714.4(IFT140):c.3943GCCAAG[2] (p.1315AK[2]) microsatellite Orofacial-digital syndrome III [RCV000256471]|Saldino-Mainzer syndrome [RCV000386105] Chr16:1519961..1519966 [GRCh38]
Chr16:1569962..1569967 [GRCh37]
Chr16:16p13.3
likely pathogenic|uncertain significance
NM_014714.4(IFT140):c.1727G>A (p.Arg576Gln) single nucleotide variant Saldino-Mainzer syndrome [RCV001234939]|not provided [RCV000174924] Chr16:1568260 [GRCh38]
Chr16:1618261 [GRCh37]
Chr16:16p13.3
uncertain significance
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(chr16:46766-1544014)x1 copy number loss See cases [RCV000134917] Chr16:46766..1544014 [GRCh38]
Chr16:96766..1594015 [GRCh37]
Chr16:36766..1534016 [NCBI36]
Chr16:16p13.3
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 16p13.3-13.11(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
NM_014714.4(IFT140):c.2551G>A (p.Val851Met) single nucleotide variant Saldino-Mainzer syndrome [RCV001039003]|not provided [RCV000176094] Chr16:1526645 [GRCh38]
Chr16:1576646 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_014714.4(IFT140):c.2829G>A (p.Pro943=) single nucleotide variant Saldino-Mainzer syndrome [RCV001082254]|not provided [RCV000176316] Chr16:1525266 [GRCh38]
Chr16:1575267 [GRCh37]
Chr16:16p13.3
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014714.4(IFT140):c.3675G>T (p.Leu1225=) single nucleotide variant not provided [RCV000176882] Chr16:1520329 [GRCh38]
Chr16:1570330 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_014714.4(IFT140):c.3988G>A (p.Ala1330Thr) single nucleotide variant Saldino-Mainzer syndrome [RCV000329010]|not specified [RCV000176939] Chr16:1519933 [GRCh38]
Chr16:1569934 [GRCh37]
Chr16:16p13.3
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014714.4(IFT140):c.3210G>A (p.Ala1070=) single nucleotide variant Saldino-Mainzer syndrome [RCV001088681]|not provided [RCV000176572] Chr16:1523888 [GRCh38]
Chr16:1573889 [GRCh37]
Chr16:16p13.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014714.4(IFT140):c.2542C>T (p.Arg848Cys) single nucleotide variant Microcephaly [RCV001252699]|Saldino-Mainzer syndrome [RCV000389738]|not provided [RCV000349501] Chr16:1526654 [GRCh38]
Chr16:1576655 [GRCh37]
Chr16:16p13.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014714.4(IFT140):c.1541T>A (p.Leu514His) single nucleotide variant Saldino-Mainzer syndrome [RCV000275916]|not specified [RCV000406485] Chr16:1571518 [GRCh38]
Chr16:1621519 [GRCh37]
Chr16:16p13.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014714.4(IFT140):c.1542C>A (p.Leu514=) single nucleotide variant Saldino-Mainzer syndrome [RCV000368081]|not specified [RCV000357908] Chr16:1571517 [GRCh38]
Chr16:1621518 [GRCh37]
Chr16:16p13.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3 copy number gain See cases [RCV000203445] Chr16:102839..28327676 [GRCh37]
Chr16:16p13.3-11.2
pathogenic
NM_014714.4(IFT140):c.758G>A (p.Arg253Gln) single nucleotide variant Saldino-Mainzer syndrome [RCV000364470]|not specified [RCV000378415] Chr16:1589657 [GRCh38]
Chr16:1639658 [GRCh37]
Chr16:16p13.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014714.4(IFT140):c.2366A>T (p.Asp789Val) single nucleotide variant Saldino-Mainzer syndrome [RCV000543088] Chr16:1557968 [GRCh38]
Chr16:1607969 [GRCh37]
Chr16:16p13.3
uncertain significance
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_014714.4(IFT140):c.70C>T (p.His24Tyr) single nucleotide variant Jeune thoracic dystrophy [RCV000516117]|Saldino-Mainzer syndrome [RCV001035060] Chr16:1607197 [GRCh38]
Chr16:1657198 [GRCh37]
Chr16:16p13.3
pathogenic|likely pathogenic|uncertain significance
NM_014714.4(IFT140):c.1010-1G>A single nucleotide variant Jeune thoracic dystrophy [RCV000516131]|Retinitis pigmentosa 80 [RCV001376438]|Saldino-Mainzer syndrome [RCV001055096]|not provided [RCV000326779] Chr16:1586276 [GRCh38]
Chr16:1636277 [GRCh37]
Chr16:16p13.3
pathogenic|likely pathogenic
NM_014714.4(IFT140):c.*2G>A single nucleotide variant Saldino-Mainzer syndrome [RCV000314448]|not specified [RCV000348101] Chr16:1510942 [GRCh38]
Chr16:1560943 [GRCh37]
Chr16:16p13.3
likely benign|uncertain significance
GRCh37/hg19 16p13.3(chr16:88165-1715454)x1 copy number loss See cases [RCV000239415] Chr16:88165..1715454 [GRCh37]
Chr16:16p13.3
pathogenic
NM_014714.4(IFT140):c.472C>T (p.Arg158Trp) single nucleotide variant not provided [RCV000487511] Chr16:1592486 [GRCh38]
Chr16:1642487 [GRCh37]
Chr16:16p13.3
likely pathogenic
NM_014714.4(IFT140):c.811-10C>T single nucleotide variant Saldino-Mainzer syndrome [RCV000528584] Chr16:1588034 [GRCh38]
Chr16:1638035 [GRCh37]
Chr16:16p13.3
likely benign
NM_014714.4(IFT140):c.4318C>T (p.Arg1440Cys) single nucleotide variant Saldino-Mainzer syndrome [RCV000525397] Chr16:1511015 [GRCh38]
Chr16:1561016 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_014714.4(IFT140):c.1155+15G>A single nucleotide variant Saldino-Mainzer syndrome [RCV000283384] Chr16:1586115 [GRCh38]
Chr16:1636116 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_014714.4(IFT140):c.3693G>A (p.Thr1231=) single nucleotide variant Saldino-Mainzer syndrome [RCV000301390] Chr16:1520311 [GRCh38]
Chr16:1570312 [GRCh37]
Chr16:16p13.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014714.4(IFT140):c.685G>A (p.Ala229Thr) single nucleotide variant Saldino-Mainzer syndrome [RCV000301773] Chr16:1589730 [GRCh38]
Chr16:1639731 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_014714.4(IFT140):c.635-12G>C single nucleotide variant Saldino-Mainzer syndrome [RCV000266564]|not specified [RCV000609932] Chr16:1589792 [GRCh38]
Chr16:1639793 [GRCh37]
Chr16:16p13.3
benign
NM_014714.4(IFT140):c.4148T>C (p.Val1383Ala) single nucleotide variant Saldino-Mainzer syndrome [RCV000302996] Chr16:1518250 [GRCh38]
Chr16:1568251 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_014714.4(IFT140):c.2682C>A (p.His894Gln) single nucleotide variant Saldino-Mainzer syndrome [RCV000267493] Chr16:1525973 [GRCh38]
Chr16:1575974 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_014714.4(IFT140):c.1872G>A (p.Thr624=) single nucleotide variant Saldino-Mainzer syndrome [RCV000285495] Chr16:1566190 [GRCh38]
Chr16:1616191 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_014714.4(IFT140):c.3566G>A (p.Arg1189Gln) single nucleotide variant Saldino-Mainzer syndrome [RCV000303862] Chr16:1520696 [GRCh38]
Chr16:1570697 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_014714.4(IFT140):c.937C>G (p.Leu313Val) single nucleotide variant Saldino-Mainzer syndrome [RCV000287362] Chr16:1587270 [GRCh38]
Chr16:1637271 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_014714.4(IFT140):c.3990G>A (p.Ala1330=) single nucleotide variant Saldino-Mainzer syndrome [RCV000271646] Chr16:1519931 [GRCh38]
Chr16:1569932 [GRCh37]
Chr16:16p13.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_014714.4(IFT140):c.2008C>T (p.Pro670Ser) single nucleotide variant Saldino-Mainzer syndrome [RCV000291275] Chr16:1564056 [GRCh38]
Chr16:1614057 [GRCh37]
Chr16:16p13.3
benign|likely benign
NM_014714.4(IFT140):c.410G>A (p.Arg137Gln) single nucleotide variant Saldino-Mainzer syndrome [RCV000291707]|not provided [RCV000983904] Chr16:1592548 [GRCh38]
Chr16:1642549 [GRCh37]
Chr16:16p13.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014714.4(IFT140):c.*59T>C single nucleotide variant Retinitis pigmentosa 80 [RCV001544447]|Saldino-Mainzer syndrome [RCV000292597] Chr16:1510885 [GRCh38]
Chr16:1560886 [GRCh37]
Chr16:16p13.3
benign
NM_014714.4(IFT140):c.3271-4G>A single nucleotide variant Saldino-Mainzer syndrome [RCV000293965] Chr16:1523704 [GRCh38]
Chr16:1573705 [GRCh37]
Chr16:16p13.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014714.4(IFT140):c.3874-11C>T single nucleotide variant Saldino-Mainzer syndrome [RCV000294145] Chr16:1520058 [GRCh38]
Chr16:1570059 [GRCh37]
Chr16:16p13.3
benign|likely benign|uncertain significance
NM_014714.3(IFT140):c.-328C>T single nucleotide variant Saldino-Mainzer syndrome [RCV000259656] Chr16:1612074 [GRCh38]
Chr16:1662075 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_014714.4(IFT140):c.3402C>T (p.Ile1134=) single nucleotide variant Saldino-Mainzer syndrome [RCV000260171] Chr16:1523569 [GRCh38]
Chr16:1573570 [GRCh37]
Chr16:16p13.3
conflicting interpretations of pathogenicity|uncertain significance
NM_014714.4(IFT140):c.2454C>T (p.Asp818=) single nucleotide variant Saldino-Mainzer syndrome [RCV000295546] Chr16:1526742 [GRCh38]
Chr16:1576743 [GRCh37]
Chr16:16p13.3
benign|likely benign
NM_014714.4(IFT140):c.491+7G>A single nucleotide variant Saldino-Mainzer syndrome [RCV000260708]|not provided [RCV000859662] Chr16:1592460 [GRCh38]
Chr16:1642461 [GRCh37]
Chr16:16p13.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014714.4(IFT140):c.3779G>A (p.Arg1260Gln) single nucleotide variant Saldino-Mainzer syndrome [RCV000278956] Chr16:1520225 [GRCh38]
Chr16:1570226 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_014714.4(IFT140):c.1788T>C (p.Asp596=) single nucleotide variant Saldino-Mainzer syndrome [RCV000298053] Chr16:1566274 [GRCh38]
Chr16:1616275 [GRCh37]
Chr16:16p13.3
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014714.4(IFT140):c.2561C>T (p.Thr854Met) single nucleotide variant Saldino-Mainzer syndrome [RCV000280106] Chr16:1526635 [GRCh38]
Chr16:1576636 [GRCh37]
Chr16:16p13.3
conflicting interpretations of pathogenicity|uncertain significance
NM_014714.4(IFT140):c.4278G>T (p.Gly1426=) single nucleotide variant Saldino-Mainzer syndrome [RCV000299617] Chr16:1511055 [GRCh38]
Chr16:1561056 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_014714.4(IFT140):c.3525C>G (p.Thr1175=) single nucleotide variant Saldino-Mainzer syndrome [RCV000263838] Chr16:1520737 [GRCh38]
Chr16:1570738 [GRCh37]
Chr16:16p13.3
conflicting interpretations of pathogenicity|uncertain significance
NM_014714.4(IFT140):c.4266C>T (p.Ala1422=) single nucleotide variant Saldino-Mainzer syndrome [RCV000264273] Chr16:1511067 [GRCh38]
Chr16:1561068 [GRCh37]
Chr16:16p13.3
conflicting interpretations of pathogenicity|uncertain significance
NM_014714.4(IFT140):c.867C>G (p.Ser289Arg) single nucleotide variant Saldino-Mainzer syndrome [RCV000281495] Chr16:1587968 [GRCh38]
Chr16:1637969 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_014714.4(IFT140):c.1862G>A (p.Arg621Gln) single nucleotide variant Saldino-Mainzer syndrome [RCV000342548]|not specified [RCV000603483] Chr16:1566200 [GRCh38]
Chr16:1616201 [GRCh37]
Chr16:16p13.3
benign
NM_014714.4(IFT140):c.3580C>G (p.Gln1194Glu) single nucleotide variant Saldino-Mainzer syndrome [RCV000390334] Chr16:1520682 [GRCh38]
Chr16:1570683 [GRCh37]
Chr16:16p13.3
conflicting interpretations of pathogenicity|uncertain significance
NM_014714.4(IFT140):c.1083C>T (p.Pro361=) single nucleotide variant Saldino-Mainzer syndrome [RCV000322045] Chr16:1586202 [GRCh38]
Chr16:1636203 [GRCh37]
Chr16:16p13.3
benign|likely benign
NM_014714.4(IFT140):c.1918G>A (p.Asp640Asn) single nucleotide variant Saldino-Mainzer syndrome [RCV000392522] Chr16:1564146 [GRCh38]
Chr16:1614147 [GRCh37]
Chr16:16p13.3
benign|likely benign
NM_014714.4(IFT140):c.2650C>T (p.Arg884Trp) single nucleotide variant Saldino-Mainzer syndrome [RCV000322625] Chr16:1526005 [GRCh38]
Chr16:1576006 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_014714.4(IFT140):c.*235C>A single nucleotide variant Saldino-Mainzer syndrome [RCV000323323] Chr16:1510709 [GRCh38]
Chr16:1560710 [GRCh37]
Chr16:16p13.3
benign|uncertain significance
NM_014714.4(IFT140):c.3711C>T (p.Phe1237=) single nucleotide variant Saldino-Mainzer syndrome [RCV000394524]|not specified [RCV000733940] Chr16:1520293 [GRCh38]
Chr16:1570294 [GRCh37]
Chr16:16p13.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014714.4(IFT140):c.2423C>T (p.Ala808Val) single nucleotide variant Saldino-Mainzer syndrome [RCV000394548] Chr16:1526773 [GRCh38]
Chr16:1576774 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_014714.4(IFT140):c.3668G>A (p.Arg1223Lys) single nucleotide variant Saldino-Mainzer syndrome [RCV000394334] Chr16:1520336 [GRCh38]
Chr16:1570337 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_014714.4(IFT140):c.*23C>T single nucleotide variant Saldino-Mainzer syndrome [RCV000395122] Chr16:1510921 [GRCh38]
Chr16:1560922 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_014714.4(IFT140):c.4380C>T (p.Asp1460=) single nucleotide variant Saldino-Mainzer syndrome [RCV000395123] Chr16:1510953 [GRCh38]
Chr16:1560954 [GRCh37]
Chr16:16p13.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_014714.4(IFT140):c.2935G>A (p.Glu979Lys) single nucleotide variant Saldino-Mainzer syndrome [RCV000395263] Chr16:1524846 [GRCh38]
Chr16:1574847 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_014714.4(IFT140):c.2817G>A (p.Ser939=) single nucleotide variant Saldino-Mainzer syndrome [RCV000395271] Chr16:1525278 [GRCh38]
Chr16:1575279 [GRCh37]
Chr16:16p13.3
conflicting interpretations of pathogenicity|uncertain significance
NM_014714.4(IFT140):c.754C>T (p.Leu252Phe) single nucleotide variant Saldino-Mainzer syndrome [RCV000272226] Chr16:1589661 [GRCh38]
Chr16:1639662 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_014714.4(IFT140):c.546C>T (p.Asp182=) single nucleotide variant Saldino-Mainzer syndrome [RCV000324026]|not provided [RCV001171690] Chr16:1592264 [GRCh38]
Chr16:1642265 [GRCh37]
Chr16:16p13.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014714.4(IFT140):c.298C>G (p.Leu100Val) single nucleotide variant Saldino-Mainzer syndrome [RCV000346557] Chr16:1602441 [GRCh38]
Chr16:1652442 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_014714.4(IFT140):c.*153C>T single nucleotide variant Saldino-Mainzer syndrome [RCV000346284] Chr16:1510791 [GRCh38]
Chr16:1560792 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_014714.4(IFT140):c.3147C>T (p.Asn1049=) single nucleotide variant Saldino-Mainzer syndrome [RCV000325280] Chr16:1523951 [GRCh38]
Chr16:1573952 [GRCh37]
Chr16:16p13.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014714.4(IFT140):c.4026C>T (p.Phe1342=) single nucleotide variant Saldino-Mainzer syndrome [RCV000325644] Chr16:1519895 [GRCh38]
Chr16:1569896 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_014714.4(IFT140):c.2330T>G (p.Leu777Arg) single nucleotide variant Saldino-Mainzer syndrome [RCV000326528] Chr16:1558004 [GRCh38]
Chr16:1608005 [GRCh37]
Chr16:16p13.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_014714.4(IFT140):c.492-14G>A single nucleotide variant Saldino-Mainzer syndrome [RCV000371763] Chr16:1592332 [GRCh38]
Chr16:1642333 [GRCh37]
Chr16:16p13.3
benign|likely benign
NM_014714.4(IFT140):c.*46T>G single nucleotide variant Saldino-Mainzer syndrome [RCV000349911] Chr16:1510898 [GRCh38]
Chr16:1560899 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_014714.4(IFT140):c.867C>T (p.Ser289=) single nucleotide variant Saldino-Mainzer syndrome [RCV000373603] Chr16:1587968 [GRCh38]
Chr16:1637969 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_014714.4(IFT140):c.3660+13C>T single nucleotide variant Saldino-Mainzer syndrome [RCV000307469] Chr16:1520589 [GRCh38]
Chr16:1570590 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_014714.4(IFT140):c.772A>T (p.Thr258Ser) single nucleotide variant Saldino-Mainzer syndrome [RCV000307488] Chr16:1589643 [GRCh38]
Chr16:1639644 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_014714.4(IFT140):c.1230G>A (p.Ser410=) single nucleotide variant Saldino-Mainzer syndrome [RCV000328247] Chr16:1584346 [GRCh38]
Chr16:1634347 [GRCh37]
Chr16:16p13.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014714.4(IFT140):c.2424G>A (p.Ala808=) single nucleotide variant Saldino-Mainzer syndrome [RCV000350098] Chr16:1526772 [GRCh38]
Chr16:1576773 [GRCh37]
Chr16:16p13.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014714.4(IFT140):c.3861C>T (p.Asp1287=) single nucleotide variant Saldino-Mainzer syndrome [RCV000351286] Chr16:1520143 [GRCh38]
Chr16:1570144 [GRCh37]
Chr16:16p13.3
conflicting interpretations of pathogenicity|uncertain significance
NM_014714.4(IFT140):c.2908G>A (p.Glu970Lys) single nucleotide variant Saldino-Mainzer syndrome [RCV000351388] Chr16:1524873 [GRCh38]
Chr16:1574874 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_014714.4(IFT140):c.2569G>A (p.Gly857Ser) single nucleotide variant Saldino-Mainzer syndrome [RCV000374806] Chr16:1526627 [GRCh38]
Chr16:1576628 [GRCh37]
Chr16:16p13.3
benign|likely benign
NM_014714.4(IFT140):c.422C>T (p.Thr141Met) single nucleotide variant Saldino-Mainzer syndrome [RCV000375284]|not provided [RCV001171691] Chr16:1592536 [GRCh38]
Chr16:1642537 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_014714.4(IFT140):c.3830G>A (p.Arg1277Gln) single nucleotide variant Saldino-Mainzer syndrome [RCV001043480]|not provided [RCV000280924] Chr16:1520174 [GRCh38]
Chr16:1570175 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_014714.4(IFT140):c.36G>A (p.Pro12=) single nucleotide variant Saldino-Mainzer syndrome [RCV000352234] Chr16:1607231 [GRCh38]
Chr16:1657232 [GRCh37]
Chr16:16p13.3
conflicting interpretations of pathogenicity|uncertain significance
NM_014714.4(IFT140):c.*429C>T single nucleotide variant Saldino-Mainzer syndrome [RCV000376844] Chr16:1510515 [GRCh38]
Chr16:1560516 [GRCh37]
Chr16:16p13.3
likely benign|uncertain significance
NM_014714.4(IFT140):c.-267G>C single nucleotide variant Saldino-Mainzer syndrome [RCV000354428] Chr16:1612013 [GRCh38]
Chr16:1662014 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_014714.4(IFT140):c.2586C>T (p.Ala862=) single nucleotide variant Saldino-Mainzer syndrome [RCV000378315]|not provided [RCV001171689] Chr16:1526069 [GRCh38]
Chr16:1576070 [GRCh37]
Chr16:16p13.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014714.4(IFT140):c.1006A>C (p.Lys336Gln) single nucleotide variant Saldino-Mainzer syndrome [RCV000378953] Chr16:1587201 [GRCh38]
Chr16:1637202 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_014714.4(IFT140):c.1649G>A (p.Arg550Gln) single nucleotide variant Saldino-Mainzer syndrome [RCV000403682] Chr16:1571410 [GRCh38]
Chr16:1621411 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_014714.4(IFT140):c.2578-13C>T single nucleotide variant Saldino-Mainzer syndrome [RCV000264994] Chr16:1526090 [GRCh38]
Chr16:1576091 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_014714.4(IFT140):c.1646C>T (p.Ser549Phe) single nucleotide variant Saldino-Mainzer syndrome [RCV000311170] Chr16:1571413 [GRCh38]
Chr16:1621414 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_014714.4(IFT140):c.2781G>A (p.Ser927=) single nucleotide variant Saldino-Mainzer syndrome [RCV000311841] Chr16:1525314 [GRCh38]
Chr16:1575315 [GRCh37]
Chr16:16p13.3
conflicting interpretations of pathogenicity|uncertain significance
NM_014714.4(IFT140):c.3490A>G (p.Met1164Val) single nucleotide variant Saldino-Mainzer syndrome [RCV000354944] Chr16:1520772 [GRCh38]
Chr16:1570773 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_014714.4(IFT140):c.1682G>A (p.Ser561Asn) single nucleotide variant Saldino-Mainzer syndrome [RCV000355218] Chr16:1568305 [GRCh38]
Chr16:1618306 [GRCh37]
Chr16:16p13.3
benign|likely benign
NM_014714.4(IFT140):c.1831G>A (p.Val611Ile) single nucleotide variant Saldino-Mainzer syndrome [RCV000405700]|not provided [RCV001573016] Chr16:1566231 [GRCh38]
Chr16:1616232 [GRCh37]
Chr16:16p13.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014714.4(IFT140):c.-17G>C single nucleotide variant Retinitis pigmentosa 80 [RCV001544249]|Saldino-Mainzer syndrome [RCV000390809]|not specified [RCV000604950] Chr16:1607283 [GRCh38]
Chr16:1657284 [GRCh37]
Chr16:16p13.3
benign
NM_014714.4(IFT140):c.1360-14G>A single nucleotide variant Saldino-Mainzer syndrome [RCV000334018] Chr16:1583400 [GRCh38]
Chr16:1633401 [GRCh37]
Chr16:16p13.3
conflicting interpretations of pathogenicity|uncertain significance
NM_014714.4(IFT140):c.3390C>T (p.Ser1130=) single nucleotide variant Saldino-Mainzer syndrome [RCV000334106] Chr16:1523581 [GRCh38]
Chr16:1573582 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_014714.4(IFT140):c.4381G>A (p.Asp1461Asn) single nucleotide variant Saldino-Mainzer syndrome [RCV000334851] Chr16:1510952 [GRCh38]
Chr16:1560953 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_014714.4(IFT140):c.3993G>C (p.Gln1331His) single nucleotide variant Saldino-Mainzer syndrome [RCV000382606]|not provided [RCV000767021]|not specified [RCV000413085] Chr16:1519928 [GRCh38]
Chr16:1569929 [GRCh37]
Chr16:16p13.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014714.4(IFT140):c.778C>T (p.Pro260Ser) single nucleotide variant Saldino-Mainzer syndrome [RCV000405837] Chr16:1589637 [GRCh38]
Chr16:1639638 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_014714.4(IFT140):c.1272G>A (p.Pro424=) single nucleotide variant not provided [RCV000360218] Chr16:1584304 [GRCh38]
Chr16:1634305 [GRCh37]
Chr16:16p13.3
conflicting interpretations of pathogenicity|uncertain significance
NM_014714.4(IFT140):c.*278C>A single nucleotide variant Saldino-Mainzer syndrome [RCV000265885] Chr16:1510666 [GRCh38]
Chr16:1560667 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_014714.4(IFT140):c.-4C>T single nucleotide variant Saldino-Mainzer syndrome [RCV000312617] Chr16:1607270 [GRCh38]
Chr16:1657271 [GRCh37]
Chr16:16p13.3
likely benign|uncertain significance
NM_014714.4(IFT140):c.2550C>T (p.Ala850=) single nucleotide variant Saldino-Mainzer syndrome [RCV000335214] Chr16:1526646 [GRCh38]
Chr16:1576647 [GRCh37]
Chr16:16p13.3
benign|likely benign
NM_014714.4(IFT140):c.925G>A (p.Glu309Lys) single nucleotide variant Retinal dystrophy [RCV001073363]|Saldino-Mainzer syndrome [RCV000335405] Chr16:1587282 [GRCh38]
Chr16:1637283 [GRCh37]
Chr16:16p13.3
conflicting interpretations of pathogenicity|uncertain significance
NM_014714.4(IFT140):c.3079G>A (p.Gly1027Arg) single nucleotide variant Saldino-Mainzer syndrome [RCV000336264] Chr16:1524614 [GRCh38]
Chr16:1574615 [GRCh37]
Chr16:16p13.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_014714.4(IFT140):c.3558G>A (p.Glu1186=) single nucleotide variant Saldino-Mainzer syndrome [RCV000358561] Chr16:1520704 [GRCh38]
Chr16:1570705 [GRCh37]
Chr16:16p13.3
conflicting interpretations of pathogenicity|uncertain significance
NM_014714.4(IFT140):c.22C>G (p.Gln8Glu) single nucleotide variant Retinal dystrophy [RCV001073365]|Saldino-Mainzer syndrome [RCV000407664] Chr16:1607245 [GRCh38]
Chr16:1657246 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_014714.4(IFT140):c.838C>T (p.Arg280Trp) single nucleotide variant Saldino-Mainzer syndrome [RCV000407423] Chr16:1587997 [GRCh38]
Chr16:1637998 [GRCh37]
Chr16:16p13.3
benign|likely benign
NM_014714.4(IFT140):c.3743T>C (p.Ile1248Thr) single nucleotide variant Saldino-Mainzer syndrome [RCV000336337] Chr16:1520261 [GRCh38]
Chr16:1570262 [GRCh37]
Chr16:16p13.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_014714.4(IFT140):c.657G>A (p.Glu219=) single nucleotide variant Saldino-Mainzer syndrome [RCV000358955] Chr16:1589758 [GRCh38]
Chr16:1639759 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_014714.4(IFT140):c.4040+11G>A single nucleotide variant Saldino-Mainzer syndrome [RCV000360199] Chr16:1519870 [GRCh38]
Chr16:1569871 [GRCh37]
Chr16:16p13.3
benign|likely benign|uncertain significance
NM_014714.4(IFT140):c.*118G>A single nucleotide variant Saldino-Mainzer syndrome [RCV000384510] Chr16:1510826 [GRCh38]
Chr16:1560827 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_014714.4(IFT140):c.2787G>A (p.Thr929=) single nucleotide variant Saldino-Mainzer syndrome [RCV001081071]|not provided [RCV000361380] Chr16:1525308 [GRCh38]
Chr16:1575309 [GRCh37]
Chr16:16p13.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014714.4(IFT140):c.1667A>G (p.His556Arg) single nucleotide variant Saldino-Mainzer syndrome [RCV001088869]|not provided [RCV000363728] Chr16:1568320 [GRCh38]
Chr16:1618321 [GRCh37]
Chr16:16p13.3
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014714.4(IFT140):c.839G>A (p.Arg280Gln) single nucleotide variant Saldino-Mainzer syndrome [RCV000338674] Chr16:1587996 [GRCh38]
Chr16:1637997 [GRCh37]
Chr16:16p13.3
benign|likely benign
NM_014714.4(IFT140):c.3602G>A (p.Arg1201His) single nucleotide variant Microcephaly [RCV001252753]|Saldino-Mainzer syndrome [RCV000362113] Chr16:1520660 [GRCh38]
Chr16:1570661 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_014714.4(IFT140):c.2682_2683insA (p.His895fs) insertion Saldino-Mainzer syndrome [RCV000362187] Chr16:1525972..1525973 [GRCh38]
Chr16:1575973..1575974 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_014714.4(IFT140):c.1541_1542delinsAA (p.Leu514Gln) indel Saldino-Mainzer syndrome [RCV000878105]|not specified [RCV000265068] Chr16:1571517..1571518 [GRCh38]
Chr16:1621518..1621519 [GRCh37]
Chr16:16p13.3
benign|likely benign
NM_014714.4(IFT140):c.497T>C (p.Leu166Pro) single nucleotide variant not provided [RCV000296371] Chr16:1592313 [GRCh38]
Chr16:1642314 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_014714.4(IFT140):c.3684C>T (p.Ser1228=) single nucleotide variant Saldino-Mainzer syndrome [RCV000339976] Chr16:1520320 [GRCh38]
Chr16:1570321 [GRCh37]
Chr16:16p13.3
conflicting interpretations of pathogenicity|uncertain significance
NM_014714.4(IFT140):c.1352C>T (p.Ala451Val) single nucleotide variant Saldino-Mainzer syndrome [RCV000362991] Chr16:1584224 [GRCh38]
Chr16:1634225 [GRCh37]
Chr16:16p13.3
benign|likely benign
NM_014714.4(IFT140):c.459G>T (p.Thr153=) single nucleotide variant Saldino-Mainzer syndrome [RCV000318280] Chr16:1592499 [GRCh38]
Chr16:1642500 [GRCh37]
Chr16:16p13.3
benign|likely benign
NM_014714.4(IFT140):c.3501C>T (p.Thr1167=) single nucleotide variant Saldino-Mainzer syndrome [RCV000318841] Chr16:1520761 [GRCh38]
Chr16:1570762 [GRCh37]
Chr16:16p13.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014714.4(IFT140):c.3788C>T (p.Pro1263Leu) single nucleotide variant Saldino-Mainzer syndrome [RCV000389559] Chr16:1520216 [GRCh38]
Chr16:1570217 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_014714.4(IFT140):c.3413_3414delinsTA (p.Gln1138Leu) indel not provided [RCV000722554] Chr16:1523557..1523558 [GRCh38]
Chr16:1573558..1573559 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_014714.4(IFT140):c.148-22A>T single nucleotide variant Retinitis pigmentosa 80 [RCV001544245]|Saldino-Mainzer syndrome [RCV001544246] Chr16:1602613 [GRCh38]
Chr16:1652614 [GRCh37]
Chr16:16p13.3
benign
NM_014714.4(IFT140):c.1167del (p.Lys390fs) deletion Saldino-Mainzer syndrome [RCV000490349] Chr16:1584409 [GRCh38]
Chr16:1634410 [GRCh37]
Chr16:16p13.3
likely pathogenic
NM_014714.4(IFT140):c.*226T>G single nucleotide variant Saldino-Mainzer syndrome [RCV000381047] Chr16:1510718 [GRCh38]
Chr16:1560719 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_014714.4(IFT140):c.181C>T (p.Pro61Ser) single nucleotide variant Saldino-Mainzer syndrome [RCV000382462] Chr16:1602558 [GRCh38]
Chr16:1652559 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_014714.4(IFT140):c.-6T>A single nucleotide variant Saldino-Mainzer syndrome [RCV000348752] Chr16:1607272 [GRCh38]
Chr16:1657273 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_014714.4(IFT140):c.2177C>T (p.Pro726Leu) single nucleotide variant Saldino-Mainzer syndrome [RCV000626464] Chr16:1562007 [GRCh38]
Chr16:1612008 [GRCh37]
Chr16:16p13.3
pathogenic
NM_014714.4(IFT140):c.810+9G>T single nucleotide variant Saldino-Mainzer syndrome [RCV000351541] Chr16:1589596 [GRCh38]
Chr16:1639597 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_014714.4(IFT140):c.3385T>C (p.Cys1129Arg) single nucleotide variant Saldino-Mainzer syndrome [RCV000388331] Chr16:1523586 [GRCh38]
Chr16:1573587 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_014714.4(IFT140):c.154T>C (p.Cys52Arg) single nucleotide variant Saldino-Mainzer syndrome [RCV000288057] Chr16:1602585 [GRCh38]
Chr16:1652586 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_014714.4(IFT140):c.-221-6T>A single nucleotide variant Saldino-Mainzer syndrome [RCV000299526] Chr16:1610859 [GRCh38]
Chr16:1660860 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_014714.4(IFT140):c.4277G>A (p.Gly1426Glu) single nucleotide variant Saldino-Mainzer syndrome [RCV000356836] Chr16:1511056 [GRCh38]
Chr16:1561057 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_014714.4(IFT140):c.*158G>C single nucleotide variant Saldino-Mainzer syndrome [RCV000288884] Chr16:1510786 [GRCh38]
Chr16:1560787 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_014714.4(IFT140):c.2400-2A>G single nucleotide variant not provided [RCV000579301] Chr16:1526798 [GRCh38]
Chr16:1576799 [GRCh37]
Chr16:16p13.3
pathogenic
NM_014714.4(IFT140):c.1010-10C>T single nucleotide variant Saldino-Mainzer syndrome [RCV001119942] Chr16:1586285 [GRCh38]
Chr16:1636286 [GRCh37]
Chr16:16p13.3
conflicting interpretations of pathogenicity|uncertain significance
NM_014714.4(IFT140):c.2756G>A (p.Arg919Gln) single nucleotide variant Saldino-Mainzer syndrome [RCV001057759]|not provided [RCV000598098] Chr16:1525899 [GRCh38]
Chr16:1575900 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_014714.4(IFT140):c.3270+19T>C single nucleotide variant Retinitis pigmentosa 80 [RCV001544452]|Saldino-Mainzer syndrome [RCV000612733]|not specified [RCV000601310] Chr16:1523809 [GRCh38]
Chr16:1573810 [GRCh37]
Chr16:16p13.3
benign
NM_014714.4(IFT140):c.1319T>C (p.Leu440Pro) single nucleotide variant Saldino-Mainzer syndrome [RCV000626468] Chr16:1584257 [GRCh38]
Chr16:1634258 [GRCh37]
Chr16:16p13.3
pathogenic
NM_014714.4(IFT140):c.2488G>A (p.Ala830Thr) single nucleotide variant Saldino-Mainzer syndrome [RCV001120817] Chr16:1526708 [GRCh38]
Chr16:1576709 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_014714.4(IFT140):c.4208G>A (p.Arg1403Gln) single nucleotide variant Saldino-Mainzer syndrome [RCV001224336]|not provided [RCV000591433] Chr16:1511125 [GRCh38]
Chr16:1561126 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_014714.4(IFT140):c.4354G>A (p.Glu1452Lys) single nucleotide variant Saldino-Mainzer syndrome [RCV001120218] Chr16:1510979 [GRCh38]
Chr16:1560980 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_014714.4(IFT140):c.4350G>A (p.Leu1450=) single nucleotide variant Saldino-Mainzer syndrome [RCV001120219] Chr16:1510983 [GRCh38]
Chr16:1560984 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_014714.4(IFT140):c.3874-10A>C single nucleotide variant Saldino-Mainzer syndrome [RCV001115615]|not provided [RCV000731105] Chr16:1520057 [GRCh38]
Chr16:1570058 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_014714.4(IFT140):c.2509C>G (p.Arg837Gly) single nucleotide variant not provided [RCV000731245] Chr16:1526687 [GRCh38]
Chr16:1576688 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_014714.4(IFT140):c.2773G>A (p.Glu925Lys) single nucleotide variant Saldino-Mainzer syndrome [RCV001049184]|not provided [RCV000733136] Chr16:1525322 [GRCh38]
Chr16:1575323 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_014714.4(IFT140):c.157G>A (p.Val53Met) single nucleotide variant Saldino-Mainzer syndrome [RCV001038336]|not provided [RCV000734474] Chr16:1602582 [GRCh38]
Chr16:1652583 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_014714.4(IFT140):c.2504C>T (p.Ala835Val) single nucleotide variant Saldino-Mainzer syndrome [RCV001207788]|not provided [RCV000733932] Chr16:1526692 [GRCh38]
Chr16:1576693 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_014714.4(IFT140):c.3250_3253dup (p.Val1085fs) duplication Saldino-Mainzer syndrome [RCV001386349]|not provided [RCV000413340] Chr16:1523844..1523845 [GRCh38]
Chr16:1573845..1573846 [GRCh37]
Chr16:16p13.3
pathogenic|likely pathogenic
NM_014714.4(IFT140):c.2176C>G (p.Pro726Ala) single nucleotide variant Nephronophthisis [RCV001328310]|Saldino-Mainzer syndrome [RCV001042480]|not provided [RCV000413732] Chr16:1562008 [GRCh38]
Chr16:1612009 [GRCh37]
Chr16:16p13.3
likely pathogenic|uncertain significance
NM_014714.4(IFT140):c.2988T>C (p.Asn996=) single nucleotide variant Saldino-Mainzer syndrome [RCV000536370] Chr16:1524793 [GRCh38]
Chr16:1574794 [GRCh37]
Chr16:16p13.3
benign|likely benign