PNPT1 (polyribonucleotide nucleotidyltransferase 1) - Rat Genome Database

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Gene: PNPT1 (polyribonucleotide nucleotidyltransferase 1) Homo sapiens
Analyze
Symbol: PNPT1
Name: polyribonucleotide nucleotidyltransferase 1
RGD ID: 1317494
HGNC Page HGNC:23166
Description: Enables several functions, including 3'-5'-exoribonuclease activity; RNA binding activity; and polyribonucleotide nucleotidyltransferase activity. Involved in several processes, including RNA metabolic process; cellular response to interferon-beta; and positive regulation of RNA metabolic process. Located in cytosol and mitochondrial intermembrane space. Part of mitochondrial degradosome. Implicated in autosomal recessive nonsyndromic deafness 70; combined oxidative phosphorylation deficiency 13; and spinocerebellar ataxia type 25.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 3'-5' RNA exonuclease OLD35; COXPD13; DFNB70; DKFZp762K1914; old-35; OLD35; PNPASE; PNPase 1; PNPase old-35; polynucleotide phosphorylase 1; polynucleotide phosphorylase-like protein; polyribonucleotide nucleotidyltransferase 1, mitochondrial; SCA25
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: PNPT1P1   PNPT1P2  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38255,634,061 - 55,693,844 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl255,634,061 - 55,693,863 (-)EnsemblGRCh38hg38GRCh38
GRCh37255,861,196 - 55,920,979 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36255,715,956 - 55,774,463 (-)NCBINCBI36Build 36hg18NCBI36
Build 34255,774,117 - 55,832,610NCBI
Celera255,701,589 - 55,761,360 (-)NCBICelera
Cytogenetic Map2p16.1NCBI
HuRef255,596,276 - 55,655,947 (-)NCBIHuRef
CHM1_1255,791,555 - 55,851,305 (-)NCBICHM1_1
T2T-CHM13v2.0255,631,213 - 55,690,978 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal cerebral white matter morphology  (IAGP)
Abnormal corpus callosum morphology  (IAGP)
Abnormal corpus striatum morphology  (IAGP)
Abolished vibration sense  (IAGP)
Absent speech  (IAGP)
Ankle flexion contracture  (IAGP)
Areflexia of lower limbs  (IAGP)
Ataxia  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Axial hypotonia  (IAGP)
Babinski sign  (IAGP)
Cataract  (IAGP)
Cerebellar atrophy  (IAGP)
Childhood onset  (IAGP)
Choreoathetosis  (IAGP)
Decreased mitochondrial complex III activity in liver tissue  (IAGP)
Decreased nerve conduction velocity  (IAGP)
Decreased number of peripheral myelinated nerve fibers  (IAGP)
Delayed myelination  (IAGP)
Developmental cataract  (IAGP)
Dysarthria  (IAGP)
Dyskinesia  (IAGP)
Dystonia  (IAGP)
Elevated CSF neopterin level  (IAGP)
Encephalopathy  (IAGP)
Facial myokymia  (IAGP)
Facial tics  (IAGP)
Failure to thrive  (IAGP)
Feeding difficulties in infancy  (IAGP)
Gastrostomy tube feeding in infancy  (IAGP)
Generalized hypotonia  (IAGP)
Growth delay  (IAGP)
Hearing impairment  (IAGP)
Hip contracture  (IAGP)
Hyporeflexia  (IAGP)
Impaired pain sensation  (IAGP)
Increased CSF lactate  (IAGP)
Increased serum lactate  (IAGP)
Infantile onset  (IAGP)
Intrauterine growth retardation  (IAGP)
Leukodystrophy  (IAGP)
Limb dystonia  (IAGP)
Lower limb hypertonia  (IAGP)
Mitochondrial respiratory chain defects  (IAGP)
Nystagmus  (IAGP)
Oculomotor apraxia  (IAGP)
Orofacial dyskinesia  (IAGP)
Pes cavus  (IAGP)
Poor head control  (IAGP)
Profound static encephalopathy  (IAGP)
Reduced visual acuity  (IAGP)
Scoliosis  (IAGP)
Sensorineural hearing impairment  (IAGP)
Sensory neuropathy  (IAGP)
Severe muscular hypotonia  (IAGP)
Skeletal muscle atrophy  (IAGP)
Strabismus  (IAGP)
Subsarcolemmal accumulations of abnormally shaped mitochondria  (IAGP)
Type 1 muscle fiber predominance  (IAGP)
Type 2 muscle fiber atrophy  (IAGP)
Visual impairment  (IAGP)
Vomiting  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
7. A mutation in PNPT1, encoding mitochondrial-RNA-import protein PNPase, causes hereditary hearing loss. von Ameln S, etal., Am J Hum Genet. 2012 Nov 2;91(5):919-27. doi: 10.1016/j.ajhg.2012.09.002. Epub 2012 Oct 18.
Additional References at PubMed
PMID:12419256   PMID:12473748   PMID:12477932   PMID:12721301   PMID:12798676   PMID:14563561   PMID:14702039   PMID:15489334   PMID:15815621   PMID:16055741   PMID:16344560   PMID:16410805  
PMID:16505900   PMID:16934922   PMID:16966379   PMID:16966381   PMID:17804700   PMID:17983748   PMID:18029348   PMID:18083836   PMID:18083837   PMID:18391951   PMID:18501193   PMID:19509288  
PMID:19580345   PMID:19604093   PMID:19864255   PMID:20186120   PMID:20301317   PMID:20546612   PMID:20547861   PMID:20691904   PMID:20877624   PMID:21151174   PMID:21873635   PMID:22210891  
PMID:22586326   PMID:22658674   PMID:22681889   PMID:22815474   PMID:22939629   PMID:23084291   PMID:23221631   PMID:23473034   PMID:24143183   PMID:24729470   PMID:25277244   PMID:25429064  
PMID:25921289   PMID:26186194   PMID:26344197   PMID:26496610   PMID:27684187   PMID:27759031   PMID:28334892   PMID:28380382   PMID:28514442   PMID:28515276   PMID:28594066   PMID:28645153  
PMID:29395067   PMID:29507755   PMID:29564676   PMID:29568061   PMID:29967381   PMID:30020492   PMID:30021884   PMID:30244537   PMID:31056398   PMID:31091453   PMID:31536960   PMID:31617661  
PMID:31871319   PMID:32129710   PMID:32296183   PMID:32397904   PMID:32628020   PMID:32665550   PMID:32877691   PMID:33199448   PMID:33742100   PMID:33812062   PMID:33957083   PMID:33961781  
PMID:34079125   PMID:34373451   PMID:34374074   PMID:34415280   PMID:35012549   PMID:35013218   PMID:35032548   PMID:35163574   PMID:35271311   PMID:35411967   PMID:35509820   PMID:35776542  
PMID:35831314   PMID:36232701  


Genomics

Comparative Map Data
PNPT1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38255,634,061 - 55,693,844 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl255,634,061 - 55,693,863 (-)EnsemblGRCh38hg38GRCh38
GRCh37255,861,196 - 55,920,979 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36255,715,956 - 55,774,463 (-)NCBINCBI36Build 36hg18NCBI36
Build 34255,774,117 - 55,832,610NCBI
Celera255,701,589 - 55,761,360 (-)NCBICelera
Cytogenetic Map2p16.1NCBI
HuRef255,596,276 - 55,655,947 (-)NCBIHuRef
CHM1_1255,791,555 - 55,851,305 (-)NCBICHM1_1
T2T-CHM13v2.0255,631,213 - 55,690,978 (-)NCBIT2T-CHM13v2.0
Pnpt1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391129,080,236 - 29,112,010 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1129,080,744 - 29,111,828 (+)EnsemblGRCm39 Ensembl
GRCm381129,130,129 - 29,161,827 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1129,130,744 - 29,161,828 (+)EnsemblGRCm38mm10GRCm38
MGSCv371129,030,751 - 29,061,828 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361129,030,751 - 29,061,828 (+)NCBIMGSCv36mm8
Celera1131,494,148 - 31,527,000 (+)NCBICelera
Cytogenetic Map11A3.3NCBI
Pnpt1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.214102,877,553 - 102,908,696 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl14102,877,553 - 102,908,696 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx14107,212,708 - 107,243,868 (+)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.014108,449,467 - 108,480,655 (+)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.014104,921,883 - 104,953,071 (+)NCBIRnor_WKY
Rnor_6.014113,530,470 - 113,561,645 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl14113,530,470 - 113,561,645 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.014113,205,574 - 113,236,749 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.414110,130,417 - 110,161,762 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.114110,156,766 - 110,187,382 (+)NCBI
Celera14101,762,647 - 101,794,453 (+)NCBICelera
Cytogenetic Map14q22NCBI
Pnpt1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542427,407,489 - 27,448,992 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495542427,407,451 - 27,449,830 (+)NCBIChiLan1.0ChiLan1.0
PNPT1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12A56,931,110 - 56,986,408 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2A56,931,365 - 56,986,326 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02A55,792,412 - 55,848,242 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PNPT1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11056,478,771 - 56,520,992 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1056,478,680 - 56,520,967 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1056,435,176 - 56,478,020 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01057,482,766 - 57,525,822 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1057,482,669 - 57,525,810 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11057,184,232 - 57,226,744 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01057,463,411 - 57,505,932 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01057,754,350 - 57,797,122 (-)NCBIUU_Cfam_GSD_1.0
Pnpt1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440629226,538,923 - 26,583,394 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364911,987,097 - 2,032,430 (-)EnsemblSpeTri2.0
SpeTri2.0NW_0049364911,989,429 - 2,032,430 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PNPT1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl385,595,392 - 85,639,690 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1385,595,356 - 85,639,665 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2390,333,302 - 90,422,937 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PNPT1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11451,211,385 - 51,267,706 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1451,211,118 - 51,267,098 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604560,453,832 - 60,510,342 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Pnpt1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248335,883,318 - 5,923,758 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248335,883,300 - 5,923,758 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PNPT1
435 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2372
Count of miRNA genes:807
Interacting mature miRNAs:946
Transcripts:ENST00000260604, ENST00000415374, ENST00000415489, ENST00000429805, ENST00000447944, ENST00000481066
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
PMC139196P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37255,863,186 - 55,863,385UniSTSGRCh37
Build 36255,716,690 - 55,716,889RGDNCBI36
Celera255,703,570 - 55,703,769RGD
Cytogenetic Map2p15UniSTS
HuRef255,598,264 - 55,598,463UniSTS
D10S16   No map positions available.
D15S1477  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map4q32-q35UniSTS
Cytogenetic Map5q11UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.1-p11.2UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map16p13.13-p13.12UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q23UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map13q12.1UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map2q31UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map3p21.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map19pUniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8q11.21UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map10q23.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map1q31.3UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map9p13UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map6q25.2-q25.3UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map17q22-q23UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map13q11UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map3p25-p24UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map3p12UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic MapXp11.2UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map6p21.1-p12.2UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map1p35UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map14q11.1UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map9p22UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map9p22.1UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map8q12.1UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2p24UniSTS
Cytogenetic Map8q24.21UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map7p14-p13UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map10q25UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map15q21-q23UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map11q12UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map11q23.2UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map12q24.11UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map20p11.22-p11.1UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map22q12UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map12q14UniSTS
Cytogenetic Map11q23.1-q23.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map17qUniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map6p24.2UniSTS
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.1-p12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map13q14.1-q14.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17p13.1-p12UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5q14.2UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map5q32-q34UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map8p22-p21UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map7q32.2UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map14q31-q32.1UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map20p11.23-p11.21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map4q21.23UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map12q24.11UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map7q34-q35UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map6p25.1-p23UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map13q12.1UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map12p13.1-p12.3UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map3p21.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic MapXp21.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map12p13-p12UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic MapXp11.2UniSTS
Cytogenetic Map19pUniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map11p15.3-p15.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8q22UniSTS
Cytogenetic Map4p15.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map2p16.3UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map6q24.3UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map10q23.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map6q22.1UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map15q22.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map3p21-p12UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p22-p21.33UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map9q22UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map2q31.3UniSTS
Cytogenetic Map1q31UniSTS
Cytogenetic Map7q32-q33UniSTS
Cytogenetic Map7q21.1UniSTS
Cytogenetic Map14q23-q24.2UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map2p24-p21UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map12p11UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map17q25.2UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic MapXq25-q26UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map15q25UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic Map17q22-q23UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q26.2-q27UniSTS
Cytogenetic Map1q25.1-q25.2UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map14q12-q13UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic MapXq23UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map4q32-q34UniSTS
Cytogenetic MapXq25-q26.1UniSTS
Cytogenetic Map2p25-p24UniSTS
Cytogenetic Map2p25UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic MapXp22.2-p22.1UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map20q11.22-q12UniSTS
Cytogenetic Map4q34.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map12q13-q14UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map9q31.2UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map21q21.2UniSTS
Cytogenetic Map10q24.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map8q21.1UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1q32.2UniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map2q36.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map1p35UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map20p12UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map4q22.1-q23UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map9p22UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2p22.3UniSTS
Cytogenetic MapXq26.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map22q13.3UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map11p14UniSTS
Cytogenetic Map1p32.1UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map11q23.2UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map3p13UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map15q22-q24UniSTS
Cytogenetic Map8q23UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map4q31.3UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map1q24.2UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map15q22.1-q22.31UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic MapXq13UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map14q32.1UniSTS
Cytogenetic Map16q12-q13UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map8q24.21UniSTS
Cytogenetic Map12q13.1UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map5q31.2-q34UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map6q24.2UniSTS
Cytogenetic Map22qUniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic MapXp22.12-p22.11UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map8p22-p21.3UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map1p36.12UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map6q25.2-q27UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map7p14-p13UniSTS
Cytogenetic Map12q24.2UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map7q22-qterUniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map5p15.1-p14.3UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map3p12.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map3q28UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic MapXq22.2UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map7p15.1UniSTS
Cytogenetic Map2q37.2UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map14q32.13UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map16p13.1UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map20q13.2-q13.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q33.2UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map18p11.2UniSTS
Cytogenetic Map7p11.1UniSTS
Cytogenetic Map1q31-q32UniSTS
Cytogenetic Map2q12UniSTS
Cytogenetic Map3p21.32UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map6q24.1UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map17q11-q21UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map6q16.3UniSTS
Cytogenetic Map17q24-q25UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic MapXq27.1UniSTS
Cytogenetic Map8q12.3UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map3p11.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map18p11.3UniSTS
Cytogenetic Map17q11.1UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map13q12.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map12q12-q13UniSTS
Cytogenetic Map12q14UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map2q32-q34UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map19q13.33-q13.41UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6q23-q24UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map6p12.3-p11.2UniSTS
Cytogenetic Map6q16.1-q16.3UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map7q31.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3q25.2UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map7q21.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map22q12-q13UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map1q24.3UniSTS
Cytogenetic Map9q33.1UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map2p16.2UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map1q23UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map11q13.3UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map11q12.1UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8p21UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q33-q34UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map13q32UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map5q22UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map3p26.3UniSTS
Cytogenetic Map2q11.1UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map12q24.23UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic MapXp22.31UniSTS
Cytogenetic MapXp21.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3q24UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map14q11.2-q12UniSTS
Cytogenetic Map3p24UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map4p13-p12UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map9q31-q34UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1pUniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS
D1S1425  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map4q21.23UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map8q12.1UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map6q25.2-q25.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map2p23-p22UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map17q22-q23UniSTS
Cytogenetic Map2p11.1UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map2p12-p11.2UniSTS
Cytogenetic Map3q11.1UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map1p21.3UniSTS
Cytogenetic Map1q32.2UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map18p11.3-p11.2UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map12p12.2-p11.2UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map17q22-q23.2UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map3p21.1-p14.2UniSTS
Cytogenetic Map2p24UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map6q25.2-q27UniSTS
Cytogenetic Map12q24.32UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map15q11-q12UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map15q21.1-q21.2UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map12p13.33UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map19q13.33-q13.41UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map4q31.21UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map1q24.2UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map10p15-p14UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map3q12.1UniSTS
Cytogenetic Map15q24-q25UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map6pter-p12.1UniSTS
Cytogenetic Map6q16UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map11q23.1-q23.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map16q24.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic MapXq21.1UniSTS
D10S16  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map2q11.2-q12UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map3p22UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map9p13.3-p12UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map5q21-q22UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map1q24.1UniSTS
Cytogenetic Map7q32.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map4q34UniSTS
Cytogenetic Map2p22-p21UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map1p36.23UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map11p15.3-p15.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map3q26UniSTS
Cytogenetic Map12p12.1-p11.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic MapXq23UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map5p15.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map17qterUniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map20q12-q13.12UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map5q31.2-q34UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map1pter-q31.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map3p23-p21UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16p13.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1p36.1-p34UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map15q21.1-q21.2UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map3p11.1UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic MapXq21UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map15q24.2UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map2q34UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map3p23UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map4p15.3UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map12q12-q13UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map19qterUniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map17pUniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map2p13.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map3q26.2UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1728 1364 1343 236 1069 161 3286 1540 2427 248 1342 1510 92 1 1011 2158 4 1
Low 711 1537 383 388 793 304 1071 656 1307 171 118 103 83 193 630 2 1
Below cutoff 90 89 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_033012 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_033109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005264629 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017005172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047446161 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001739010 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC015982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ458465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW731791 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY027528 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY290863 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000862 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC005986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC021170 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC053660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU943827 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR749867 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA998523 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB461021 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FB334481 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HH765820 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT585084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000260604   ⟹   ENSP00000260604
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl255,635,094 - 55,693,842 (-)Ensembl
RefSeq Acc Id: ENST00000415374   ⟹   ENSP00000393953
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl255,634,569 - 55,693,823 (-)Ensembl
RefSeq Acc Id: ENST00000415489   ⟹   ENSP00000411057
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl255,647,401 - 55,671,368 (-)Ensembl
RefSeq Acc Id: ENST00000429805   ⟹   ENSP00000411994
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl255,679,682 - 55,693,863 (-)Ensembl
RefSeq Acc Id: ENST00000447944   ⟹   ENSP00000400646
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl255,634,061 - 55,693,844 (-)Ensembl
RefSeq Acc Id: ENST00000481066
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl255,636,370 - 55,647,382 (-)Ensembl
RefSeq Acc Id: ENST00000625249   ⟹   ENSP00000486227
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl255,684,994 - 55,693,823 (-)Ensembl
RefSeq Acc Id: NM_033109   ⟹   NP_149100
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38255,634,061 - 55,693,844 (-)NCBI
GRCh37255,861,198 - 55,921,045 (-)NCBI
Build 36255,715,956 - 55,774,463 (-)NCBI Archive
HuRef255,596,276 - 55,655,947 (-)NCBI
CHM1_1255,791,555 - 55,851,305 (-)NCBI
T2T-CHM13v2.0255,631,213 - 55,690,978 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005264629   ⟹   XP_005264686
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38255,634,061 - 55,693,844 (-)NCBI
GRCh37255,861,198 - 55,921,045 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017005172   ⟹   XP_016860661
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38255,634,061 - 55,693,844 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047446161   ⟹   XP_047302117
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38255,647,273 - 55,693,844 (-)NCBI
Reference Sequences
RefSeq Acc Id: NP_149100   ⟸   NM_033109
- Peptide Label: precursor
- UniProtKB: Q9BVX0 (UniProtKB/Swiss-Prot),   Q8TCS8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005264686   ⟸   XM_005264629
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016860661   ⟸   XM_017005172
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000486227   ⟸   ENST00000625249
RefSeq Acc Id: ENSP00000411057   ⟸   ENST00000415489
RefSeq Acc Id: ENSP00000411994   ⟸   ENST00000429805
RefSeq Acc Id: ENSP00000393953   ⟸   ENST00000415374
RefSeq Acc Id: ENSP00000260604   ⟸   ENST00000260604
RefSeq Acc Id: ENSP00000400646   ⟸   ENST00000447944
RefSeq Acc Id: XP_047302117   ⟸   XM_047446161
- Peptide Label: isoform X2
Protein Domains
KH   RNase_PH   S1 motif

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8TCS8-F1-model_v2 AlphaFold Q8TCS8 1-783 view protein structure

Promoters
RGD ID:6860368
Promoter ID:EPDNEW_H3349
Type:initiation region
Name:PNPT1_1
Description:polyribonucleotide nucleotidyltransferase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38255,693,835 - 55,693,895EPDNEW
RGD ID:6797987
Promoter ID:HG_KWN:32726
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:ENST00000260604,   OTTHUMT00000251481,   OTTHUMT00000325325,   OTTHUMT00000325327,   OTTHUMT00000326451,   OTTHUMT00000326484,   UC002RZG.2
Position:
Human AssemblyChrPosition (strand)Source
Build 36255,774,171 - 55,774,671 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_033109.5(PNPT1):c.1160A>G (p.Gln387Arg) single nucleotide variant Combined oxidative phosphorylation defect type 13 [RCV000033022] Chr2:55667007 [GRCh38]
Chr2:55894142 [GRCh37]
Chr2:2p16.1
pathogenic
NM_033109.5(PNPT1):c.1424A>G (p.Glu475Gly) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 70 [RCV000033023] Chr2:55656148 [GRCh38]
Chr2:55883283 [GRCh37]
Chr2:2p16.1
pathogenic
GRCh38/hg38 2p16.1(chr2:55426587-56072649)x3 copy number gain See cases [RCV000052659] Chr2:55426587..56072649 [GRCh38]
Chr2:55653723..56299784 [GRCh37]
Chr2:55507227..56153288 [NCBI36]
Chr2:2p16.1
uncertain significance
GRCh38/hg38 2p22.1-16.1(chr2:40738282-57863821)x3 copy number gain See cases [RCV000052943] Chr2:40738282..57863821 [GRCh38]
Chr2:40965422..58090956 [GRCh37]
Chr2:40818926..57944460 [NCBI36]
Chr2:2p22.1-16.1
pathogenic
NM_033109.4(PNPT1):c.1141C>T (p.His381Tyr) single nucleotide variant Malignant melanoma [RCV000065633] Chr2:55667026 [GRCh38]
Chr2:55894161 [GRCh37]
Chr2:55747665 [NCBI36]
Chr2:2p16.1
not provided
NM_033109.5(PNPT1):c.566-6T>C single nucleotide variant not provided [RCV000888450]|not specified [RCV000127506] Chr2:55679801 [GRCh38]
Chr2:55906936 [GRCh37]
Chr2:2p16.1
benign
NM_033109.5(PNPT1):c.1074-19A>G single nucleotide variant Autosomal recessive nonsyndromic hearing loss 70 [RCV001789178]|Combined oxidative phosphorylation defect type 13 [RCV001789177]|not provided [RCV001515830]|not specified [RCV000174609] Chr2:55667112 [GRCh38]
Chr2:55894247 [GRCh37]
Chr2:2p16.1
benign
NM_033109.5(PNPT1):c.1074-15C>T single nucleotide variant not provided [RCV001518984]|not specified [RCV000127508] Chr2:55667108 [GRCh38]
Chr2:55894243 [GRCh37]
Chr2:2p16.1
benign
NM_033109.5(PNPT1):c.1390C>A (p.Arg464=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 70 [RCV001789180]|Combined oxidative phosphorylation defect type 13 [RCV001789179]|not provided [RCV000676644]|not specified [RCV000127509] Chr2:55656182 [GRCh38]
Chr2:55883317 [GRCh37]
Chr2:2p16.1
benign
NM_033109.5(PNPT1):c.1738+9G>C single nucleotide variant not provided [RCV000676643]|not specified [RCV000127510] Chr2:55646250 [GRCh38]
Chr2:55873385 [GRCh37]
Chr2:2p16.1
benign
NM_033109.5(PNPT1):c.1768A>G (p.Asn590Asp) single nucleotide variant not provided [RCV000676642]|not specified [RCV000176330] Chr2:55645403 [GRCh38]
Chr2:55872538 [GRCh37]
Chr2:2p16.1
benign
NM_033109.5(PNPT1):c.1938G>A (p.Thr646=) single nucleotide variant not provided [RCV000880560]|not specified [RCV000127512] Chr2:55643394 [GRCh38]
Chr2:55870529 [GRCh37]
Chr2:2p16.1
benign|likely benign
NM_033109.5(PNPT1):c.2070-5T>C single nucleotide variant not provided [RCV000676641]|not specified [RCV000176692] Chr2:55640710 [GRCh38]
Chr2:55867845 [GRCh37]
Chr2:2p16.1
benign
NM_033109.5(PNPT1):c.361A>G (p.Ile121Val) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 70 [RCV001789182]|Combined oxidative phosphorylation defect type 13 [RCV001789181]|not provided [RCV000676646]|not specified [RCV000127514] Chr2:55684985 [GRCh38]
Chr2:55912120 [GRCh37]
Chr2:2p16.1
benign
NM_033109.5(PNPT1):c.407G>C (p.Arg136Pro) single nucleotide variant not provided [RCV001907562] Chr2:55683831 [GRCh38]
Chr2:55910966 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.2213G>A (p.Arg738His) single nucleotide variant Combined oxidative phosphorylation defect type 13 [RCV001290310]|not provided [RCV001871733] Chr2:55636376 [GRCh38]
Chr2:55863511 [GRCh37]
Chr2:2p16.1
likely pathogenic|uncertain significance
GRCh38/hg38 2p16.1(chr2:55570578-60519844)x1 copy number loss See cases [RCV000137092] Chr2:55570578..60519844 [GRCh38]
Chr2:55797714..60746979 [GRCh37]
Chr2:55651218..60600483 [NCBI36]
Chr2:2p16.1
pathogenic|uncertain significance
GRCh38/hg38 2p16.3-11.2(chr2:47620388-86702722)x3 copy number gain See cases [RCV000137586] Chr2:47620388..86702722 [GRCh38]
Chr2:47847527..86929845 [GRCh37]
Chr2:47701031..86783356 [NCBI36]
Chr2:2p16.3-11.2
uncertain significance
GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3 copy number gain See cases [RCV000141494] Chr2:7495123..87705899 [GRCh38]
Chr2:7635254..88005418 [GRCh37]
Chr2:7552705..87786533 [NCBI36]
Chr2:2p25.1-11.2
benign
NM_033109.5(PNPT1):c.404-1G>A single nucleotide variant Combined oxidative phosphorylation defect type 13 [RCV000202393] Chr2:55683835 [GRCh38]
Chr2:55910970 [GRCh37]
Chr2:2p16.1
pathogenic|uncertain significance
NM_033109.5(PNPT1):c.1592C>G (p.Thr531Arg) single nucleotide variant Combined oxidative phosphorylation defect type 13 [RCV000191120]|not provided [RCV001705075] Chr2:55647357 [GRCh38]
Chr2:55874492 [GRCh37]
Chr2:2p16.1
likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_033109.5(PNPT1):c.1525G>A (p.Val509Ile) single nucleotide variant Combined oxidative phosphorylation defect type 13 [RCV000191121]|Combined oxidative phosphorylation defect type 13 [RCV000845061]|not provided [RCV000766604]|not specified [RCV000196452] Chr2:55647424 [GRCh38]
Chr2:55874559 [GRCh37]
Chr2:2p16.1
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
GRCh37/hg19 2p16.1(chr2:55910804-55921261)x3 copy number gain See cases [RCV000240051] Chr2:55910804..55921261 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.2014-3C>G single nucleotide variant Spinocerebellar ataxia type 25 [RCV002265067] Chr2:55643216 [GRCh38]
Chr2:55870351 [GRCh37]
Chr2:2p16.1
pathogenic|uncertain significance
NM_033109.4(PNPT1):c.350T>C (p.Leu117Pro) single nucleotide variant not provided [RCV000196562] Chr2:55684996 [GRCh38]
Chr2:55912131 [GRCh37]
Chr2:2p16.1
likely pathogenic
NM_033109.5(PNPT1):c.1251G>A (p.Gly417=) single nucleotide variant not provided [RCV000676645]|not specified [RCV000200542] Chr2:55660190 [GRCh38]
Chr2:55887325 [GRCh37]
Chr2:2p16.1
likely pathogenic|benign|likely benign
NM_033109.5(PNPT1):c.861T>A (p.Thr287=) single nucleotide variant not provided [RCV000902091]|not specified [RCV000200656] Chr2:55672898 [GRCh38]
Chr2:55900033 [GRCh37]
Chr2:2p16.1
benign
NM_033109.5(PNPT1):c.1632C>T (p.Asp544=) single nucleotide variant not provided [RCV000891559]|not specified [RCV000196943] Chr2:55646457 [GRCh38]
Chr2:55873592 [GRCh37]
Chr2:2p16.1
benign
NM_033109.5(PNPT1):c.*11dup duplication Autosomal recessive nonsyndromic hearing loss 70 [RCV001789228]|Combined oxidative phosphorylation defect type 13 [RCV001789227]|not specified [RCV000200776] Chr2:55636225..55636226 [GRCh38]
Chr2:55863360..55863361 [GRCh37]
Chr2:2p16.1
benign
NM_033109.5(PNPT1):c.122G>C (p.Ser41Thr) single nucleotide variant not provided [RCV000676647]|not specified [RCV000197174] Chr2:55693702 [GRCh38]
Chr2:55920837 [GRCh37]
Chr2:2p16.1
benign|likely benign
NM_033109.4(PNPT1):c.394C>T (p.Arg132Ter) single nucleotide variant not provided [RCV000197484] Chr2:55684952 [GRCh38]
Chr2:55912087 [GRCh37]
Chr2:2p16.1
pathogenic
NM_033109.5(PNPT1):c.1519G>T (p.Ala507Ser) single nucleotide variant Combined oxidative phosphorylation defect type 13 [RCV000680151]|Combined oxidative phosphorylation defect type 13 [RCV001089488]|Inborn genetic diseases [RCV001266860]|Neurodevelopmental disorder [RCV000787360]|not provided [RCV000197606] Chr2:55647430 [GRCh38]
Chr2:55874565 [GRCh37]
Chr2:2p16.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_033109.4(PNPT1):c.2050G>A (p.Ala684Thr) single nucleotide variant not provided [RCV000198071] Chr2:55643177 [GRCh38]
Chr2:55870312 [GRCh37]
Chr2:2p16.1
likely pathogenic
NM_033109.5(PNPT1):c.1563G>A (p.Lys521=) single nucleotide variant not provided [RCV000198298] Chr2:55647386 [GRCh38]
Chr2:55874521 [GRCh37]
Chr2:2p16.1
conflicting interpretations of pathogenicity|uncertain significance
NM_033109.5(PNPT1):c.944A>G (p.Lys315Arg) single nucleotide variant not provided [RCV000440491]|not specified [RCV000198672] Chr2:55671351 [GRCh38]
Chr2:55898486 [GRCh37]
Chr2:2p16.1
benign|likely benign
NM_033109.5(PNPT1):c.852G>C (p.Val284=) single nucleotide variant not provided [RCV000893417]|not specified [RCV000198793] Chr2:55672907 [GRCh38]
Chr2:55900042 [GRCh37]
Chr2:2p16.1
benign|likely benign
NM_033109.5(PNPT1):c.1674+20del deletion not provided [RCV002054337]|not specified [RCV000198894] Chr2:55646395 [GRCh38]
Chr2:55873530 [GRCh37]
Chr2:2p16.1
benign
NM_033109.5(PNPT1):c.493C>T (p.Pro165Ser) single nucleotide variant Combined oxidative phosphorylation defect type 13 [RCV001332755]|not provided [RCV000199028] Chr2:55680879 [GRCh38]
Chr2:55908014 [GRCh37]
Chr2:2p16.1
likely pathogenic|conflicting interpretations of pathogenicity
NM_033109.5(PNPT1):c.575G>A (p.Arg192Gln) single nucleotide variant not provided [RCV000195523] Chr2:55679786 [GRCh38]
Chr2:55906921 [GRCh37]
Chr2:2p16.1
likely pathogenic|conflicting interpretations of pathogenicity
NM_033109.5(PNPT1):c.688G>C (p.Glu230Gln) single nucleotide variant Combined oxidative phosphorylation defect type 13 [RCV000765691]|Combined oxidative phosphorylation defect type 13 [RCV001336837]|not provided [RCV000199246] Chr2:55673071 [GRCh38]
Chr2:55900206 [GRCh37]
Chr2:2p16.1
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_033109.5(PNPT1):c.1453A>G (p.Met485Val) single nucleotide variant Combined oxidative phosphorylation defect type 13 [RCV002273982]|not provided [RCV000195745] Chr2:55654942 [GRCh38]
Chr2:55882077 [GRCh37]
Chr2:2p16.1
pathogenic|likely pathogenic
NM_033109.5(PNPT1):c.906C>T (p.Tyr302=) single nucleotide variant not provided [RCV000880191]|not specified [RCV000196124] Chr2:55672007 [GRCh38]
Chr2:55899142 [GRCh37]
Chr2:2p16.1
benign
NM_033109.5(PNPT1):c.887A>G (p.Tyr296Cys) single nucleotide variant not provided [RCV001864927] Chr2:55672026 [GRCh38]
Chr2:55899161 [GRCh37]
Chr2:2p16.1
likely pathogenic|uncertain significance
NM_033109.5(PNPT1):c.1960C>T (p.Pro654Ser) single nucleotide variant not provided [RCV000200155] Chr2:55643372 [GRCh38]
Chr2:55870507 [GRCh37]
Chr2:2p16.1
likely pathogenic|uncertain significance
NM_033109.5(PNPT1):c.1068C>G (p.Tyr356Ter) single nucleotide variant not specified [RCV000238692] Chr2:55667867 [GRCh38]
Chr2:55895002 [GRCh37]
Chr2:2p16.1
uncertain significance
GRCh37/hg19 2p16.1(chr2:55910769-55921261)x3 copy number gain See cases [RCV000239890] Chr2:55910769..55921261 [GRCh37]
Chr2:2p16.1
likely pathogenic|uncertain significance
NM_033109.5(PNPT1):c.760C>A (p.Gln254Lys) single nucleotide variant Combined oxidative phosphorylation defect type 13 [RCV000239625] Chr2:55672999 [GRCh38]
Chr2:55900134 [GRCh37]
Chr2:2p16.1
pathogenic
NM_033109.5(PNPT1):c.1528G>C (p.Ala510Pro) single nucleotide variant Combined oxidative phosphorylation defect type 13 [RCV000239707] Chr2:55647421 [GRCh38]
Chr2:55874556 [GRCh37]
Chr2:2p16.1
pathogenic
NM_033109.5(PNPT1):c.517G>A (p.Ala173Thr) single nucleotide variant not provided [RCV000489241] Chr2:55680855 [GRCh38]
Chr2:55907990 [GRCh37]
Chr2:2p16.1
likely pathogenic|conflicting interpretations of pathogenicity
NM_033109.5(PNPT1):c.565+279_565+286del deletion not provided [RCV001566220] Chr2:55680426..55680433 [GRCh38]
Chr2:55907561..55907568 [GRCh37]
Chr2:2p16.1
likely benign
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_033109.5(PNPT1):c.1175A>C (p.Gln392Pro) single nucleotide variant not provided [RCV002288001] Chr2:55666992 [GRCh38]
Chr2:55894127 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.1442-4A>G single nucleotide variant not provided [RCV002064159]|not specified [RCV000605077] Chr2:55654957 [GRCh38]
Chr2:55882092 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.521C>T (p.Ser174Phe) single nucleotide variant not provided [RCV000520628] Chr2:55680756 [GRCh38]
Chr2:55907891 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.2148+6A>T single nucleotide variant not provided [RCV000579170] Chr2:55640621 [GRCh38]
Chr2:55867756 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.1661del (p.Ile554fs) deletion not provided [RCV000591053] Chr2:55646428 [GRCh38]
Chr2:55873563 [GRCh37]
Chr2:2p16.1
likely pathogenic
NM_033109.5(PNPT1):c.1923G>A (p.Gln641=) single nucleotide variant not provided [RCV000733047] Chr2:55643409 [GRCh38]
Chr2:55870544 [GRCh37]
Chr2:2p16.1
conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 2p23.3-16.1(chr2:27861707-60790985)x3 copy number gain See cases [RCV000454271] Chr2:27861707..60790985 [GRCh37]
Chr2:2p23.3-16.1
pathogenic
GRCh37/hg19 2p16.2-16.1(chr2:54234790-57365499)x3 copy number gain See cases [RCV000446524] Chr2:54234790..57365499 [GRCh37]
Chr2:2p16.2-16.1
uncertain significance
NM_033109.5(PNPT1):c.1248-16T>C single nucleotide variant not provided [RCV002062556]|not specified [RCV000423762] Chr2:55660209 [GRCh38]
Chr2:55887344 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.1176+7T>C single nucleotide variant not specified [RCV000441254] Chr2:55666984 [GRCh38]
Chr2:55894119 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.223-9A>T single nucleotide variant See cases [RCV002252124]|not provided [RCV001521424] Chr2:55686453 [GRCh38]
Chr2:55913588 [GRCh37]
Chr2:2p16.1
benign|likely benign
NM_033109.5(PNPT1):c.1496-10C>T single nucleotide variant not provided [RCV001698260] Chr2:55647463 [GRCh38]
Chr2:55874598 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.1149A>G (p.Ser383=) single nucleotide variant not provided [RCV001703837] Chr2:55667018 [GRCh38]
Chr2:55894153 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.1074-12A>G single nucleotide variant not provided [RCV002060039]|not specified [RCV000418619] Chr2:55667105 [GRCh38]
Chr2:55894240 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.1929T>C (p.Asp643=) single nucleotide variant not provided [RCV001698374] Chr2:55643403 [GRCh38]
Chr2:55870538 [GRCh37]
Chr2:2p16.1
benign|likely benign
NM_033109.5(PNPT1):c.404-10C>A single nucleotide variant not specified [RCV000428415] Chr2:55683844 [GRCh38]
Chr2:55910979 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.2149-11T>G single nucleotide variant not provided [RCV002061476]|not specified [RCV000418800] Chr2:55637610 [GRCh38]
Chr2:55864745 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.423C>T (p.Leu141=) single nucleotide variant not specified [RCV000428847] Chr2:55683815 [GRCh38]
Chr2:55910950 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.2149-18T>A single nucleotide variant not provided [RCV002058942]|not specified [RCV000442936] Chr2:55637617 [GRCh38]
Chr2:55864752 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.298-10G>T single nucleotide variant not provided [RCV000885855] Chr2:55685058 [GRCh38]
Chr2:55912193 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.223-13C>G single nucleotide variant not specified [RCV000429645] Chr2:55686457 [GRCh38]
Chr2:55913592 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.1074-4A>T single nucleotide variant not provided [RCV000964861]|not specified [RCV000436472] Chr2:55667097 [GRCh38]
Chr2:55894232 [GRCh37]
Chr2:2p16.1
benign
NM_033109.5(PNPT1):c.977-4A>G single nucleotide variant not specified [RCV000439929] Chr2:55667962 [GRCh38]
Chr2:55895097 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.4(PNPT1):c.-25C>G single nucleotide variant not specified [RCV000426136] Chr2:55693848 [GRCh38]
Chr2:55920983 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.2070-16A>C single nucleotide variant not specified [RCV000429714] Chr2:55640721 [GRCh38]
Chr2:55867856 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.2149-19T>C single nucleotide variant not provided [RCV002062421]|not specified [RCV000444039] Chr2:55637618 [GRCh38]
Chr2:55864753 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.429A>G (p.Pro143=) single nucleotide variant not specified [RCV000441178] Chr2:55683809 [GRCh38]
Chr2:55910944 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.1906+10delinsCAT indel not specified [RCV000483968] Chr2:55644627 [GRCh38]
Chr2:55871762 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.454-18dup duplication not specified [RCV000481077] Chr2:55680930..55680931 [GRCh38]
Chr2:55908065..55908066 [GRCh37]
Chr2:2p16.1
likely benign
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_033109.5(PNPT1):c.1174_1175del (p.Gln392fs) microsatellite not provided [RCV000478961] Chr2:55666992..55666993 [GRCh38]
Chr2:55894127..55894128 [GRCh37]
Chr2:2p16.1
pathogenic
NM_033109.5(PNPT1):c.1176+7del deletion not provided [RCV001704632] Chr2:55666984 [GRCh38]
Chr2:55894119 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.2149-13dup duplication not provided [RCV000954879]|not specified [RCV000487084] Chr2:55637603..55637604 [GRCh38]
Chr2:55864738..55864739 [GRCh37]
Chr2:2p16.1
benign|likely benign
GRCh37/hg19 2p16.1(chr2:55588867-56927117)x1 copy number loss See cases [RCV000510380] Chr2:55588867..56927117 [GRCh37]
Chr2:2p16.1
uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_033109.5(PNPT1):c.516C>T (p.Gly172=) single nucleotide variant not provided [RCV001860354]|not specified [RCV000609864] Chr2:55680856 [GRCh38]
Chr2:55907991 [GRCh37]
Chr2:2p16.1
likely benign|uncertain significance
NM_033109.5(PNPT1):c.1284+10A>C single nucleotide variant not specified [RCV000607360] Chr2:55660147 [GRCh38]
Chr2:55887282 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.680-10C>T single nucleotide variant not specified [RCV000602050] Chr2:55673089 [GRCh38]
Chr2:55900224 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.680-27dup duplication not provided [RCV001523051] Chr2:55673096..55673097 [GRCh38]
Chr2:55900231..55900232 [GRCh37]
Chr2:2p16.1
benign
NM_033109.4(PNPT1):c.-48G>A single nucleotide variant not specified [RCV000614739] Chr2:55693871 [GRCh38]
Chr2:55921006 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.1771A>C (p.Lys591Gln) single nucleotide variant not provided [RCV000512732] Chr2:55645400 [GRCh38]
Chr2:55872535 [GRCh37]
Chr2:2p16.1
conflicting interpretations of pathogenicity|uncertain significance
NM_033109.5(PNPT1):c.418C>T (p.Pro140Ser) single nucleotide variant not provided [RCV000596050] Chr2:55683820 [GRCh38]
Chr2:55910955 [GRCh37]
Chr2:2p16.1
conflicting interpretations of pathogenicity|uncertain significance
NM_033109.5(PNPT1):c.404-5G>T single nucleotide variant not specified [RCV000605734] Chr2:55683839 [GRCh38]
Chr2:55910974 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.1361C>G (p.Ala454Gly) single nucleotide variant Combined oxidative phosphorylation defect type 13 [RCV000663406]|not provided [RCV001371700] Chr2:55656211 [GRCh38]
Chr2:55883346 [GRCh37]
Chr2:2p16.1
likely pathogenic|uncertain significance
GRCh37/hg19 2p22.3-16.1(chr2:34792916-56676541)x3 copy number gain not provided [RCV000682169] Chr2:34792916..56676541 [GRCh37]
Chr2:2p22.3-16.1
pathogenic
NM_033109.5(PNPT1):c.208T>C (p.Ser70Pro) single nucleotide variant Combined oxidative phosphorylation defect type 13 [RCV000714515] Chr2:55687659 [GRCh38]
Chr2:55914794 [GRCh37]
Chr2:2p16.1
pathogenic
NM_033109.5(PNPT1):c.2137G>T (p.Asp713Tyr) single nucleotide variant Combined oxidative phosphorylation defect type 13 [RCV000714516] Chr2:55640638 [GRCh38]
Chr2:55867773 [GRCh37]
Chr2:2p16.1
pathogenic
Single allele deletion not provided [RCV000714264] Chr2:40608411..146900718 [GRCh37]
Chr2:2p22.1-q22.3
likely pathogenic
NM_033109.5(PNPT1):c.667A>G (p.Lys223Glu) single nucleotide variant not provided [RCV001813854] Chr2:55679694 [GRCh38]
Chr2:55906829 [GRCh37]
Chr2:2p16.1
conflicting interpretations of pathogenicity|uncertain significance
NM_033109.5(PNPT1):c.407G>A (p.Arg136His) single nucleotide variant Combined oxidative phosphorylation defect type 13 [RCV000714514]|not provided [RCV001585665] Chr2:55683831 [GRCh38]
Chr2:55910966 [GRCh37]
Chr2:2p16.1
pathogenic|likely pathogenic
NM_033109.5(PNPT1):c.1495G>C (p.Gly499Arg) single nucleotide variant Combined oxidative phosphorylation defect type 13 [RCV000714517] Chr2:55654900 [GRCh38]
Chr2:55882035 [GRCh37]
Chr2:2p16.1
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p16.1(chr2:55914962-55938695)x4 copy number gain not provided [RCV000740460] Chr2:55914962..55938695 [GRCh37]
Chr2:2p16.1
benign
NM_033109.5(PNPT1):c.1442-44A>T single nucleotide variant not provided [RCV001564099] Chr2:55654997 [GRCh38]
Chr2:55882132 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.162-298dup duplication not provided [RCV001583737] Chr2:55687993..55687994 [GRCh38]
Chr2:55915128..55915129 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.2197-62A>G single nucleotide variant not provided [RCV001574109] Chr2:55636454 [GRCh38]
Chr2:55863589 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.739G>T (p.Val247Leu) single nucleotide variant not provided [RCV001569088] Chr2:55673020 [GRCh38]
Chr2:55900155 [GRCh37]
Chr2:2p16.1
benign|likely benign
NM_033109.5(PNPT1):c.2149-304C>A single nucleotide variant not provided [RCV001641246] Chr2:55637903 [GRCh38]
Chr2:55865038 [GRCh37]
Chr2:2p16.1
benign
NM_033109.5(PNPT1):c.162-289del deletion not provided [RCV001584787] Chr2:55687994 [GRCh38]
Chr2:55915129 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.*159T>A single nucleotide variant not provided [RCV001567359] Chr2:55636078 [GRCh38]
Chr2:55863213 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.420del (p.Leu141fs) deletion Neurodevelopmental disorder [RCV000787359] Chr2:55683818 [GRCh38]
Chr2:55910953 [GRCh37]
Chr2:2p16.1
likely pathogenic
Single allele single nucleotide variant not provided [RCV001645405] Chr2:55693981 [GRCh38]
Chr2:55921116 [GRCh37]
Chr2:2p16.1
benign
NM_033109.5(PNPT1):c.519T>C (p.Ala173=) single nucleotide variant not provided [RCV000924934] Chr2:55680758 [GRCh38]
Chr2:55907893 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.1434G>A (p.Glu478=) single nucleotide variant not provided [RCV000944117] Chr2:55656138 [GRCh38]
Chr2:55883273 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.97T>C (p.Leu33=) single nucleotide variant not provided [RCV000922322] Chr2:55693727 [GRCh38]
Chr2:55920862 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.612A>C (p.Pro204=) single nucleotide variant not provided [RCV000926406] Chr2:55679749 [GRCh38]
Chr2:55906884 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.1818T>G (p.Val606=) single nucleotide variant Combined oxidative phosphorylation defect type 13 [RCV001089489] Chr2:55645353 [GRCh38]
Chr2:55872488 [GRCh37]
Chr2:2p16.1
pathogenic
NM_033109.5(PNPT1):c.2058A>C (p.Ile686=) single nucleotide variant not provided [RCV000827229] Chr2:55643169 [GRCh38]
Chr2:55870304 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.327A>G (p.Ala109=) single nucleotide variant not provided [RCV000922698] Chr2:55685019 [GRCh38]
Chr2:55912154 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.1823-7G>A single nucleotide variant not provided [RCV000922748] Chr2:55644727 [GRCh38]
Chr2:55871862 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.680-9T>C single nucleotide variant not provided [RCV000982426] Chr2:55673088 [GRCh38]
Chr2:55900223 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.161+6G>C single nucleotide variant not provided [RCV000841016] Chr2:55693657 [GRCh38]
Chr2:55920792 [GRCh37]
Chr2:2p16.1
benign|likely benign
NM_033109.5(PNPT1):c.1284+131del deletion not provided [RCV000830784] Chr2:55660026 [GRCh38]
Chr2:55887161 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.223-65G>T single nucleotide variant not provided [RCV000835580] Chr2:55686509 [GRCh38]
Chr2:55913644 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.680-69T>C single nucleotide variant not provided [RCV000835581] Chr2:55673148 [GRCh38]
Chr2:55900283 [GRCh37]
Chr2:2p16.1
benign
NM_033109.5(PNPT1):c.1739-150A>G single nucleotide variant not provided [RCV000835582] Chr2:55645582 [GRCh38]
Chr2:55872717 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.565+90C>T single nucleotide variant not provided [RCV000835778] Chr2:55680622 [GRCh38]
Chr2:55907757 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.1495+12A>G single nucleotide variant not provided [RCV000836042] Chr2:55654888 [GRCh38]
Chr2:55882023 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.1823-8C>T single nucleotide variant not provided [RCV000958502] Chr2:55644728 [GRCh38]
Chr2:55871863 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.298-4T>A single nucleotide variant not provided [RCV000892827] Chr2:55685052 [GRCh38]
Chr2:55912187 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.1738+271G>A single nucleotide variant not provided [RCV000828620] Chr2:55645988 [GRCh38]
Chr2:55873123 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.1738+179C>T single nucleotide variant not provided [RCV000826221] Chr2:55646080 [GRCh38]
Chr2:55873215 [GRCh37]
Chr2:2p16.1
benign
NM_033109.5(PNPT1):c.2196+284G>A single nucleotide variant not provided [RCV000833055] Chr2:55637268 [GRCh38]
Chr2:55864403 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.161+49G>A single nucleotide variant not provided [RCV000834839] Chr2:55693614 [GRCh38]
Chr2:55920749 [GRCh37]
Chr2:2p16.1
benign
NM_033109.5(PNPT1):c.453+210A>G single nucleotide variant not provided [RCV000843723] Chr2:55683575 [GRCh38]
Chr2:55910710 [GRCh37]
Chr2:2p16.1
benign
NM_033109.5(PNPT1):c.1907-267T>C single nucleotide variant not provided [RCV000843749] Chr2:55643692 [GRCh38]
Chr2:55870827 [GRCh37]
Chr2:2p16.1
benign
NM_033109.5(PNPT1):c.297+37T>A single nucleotide variant not provided [RCV000833437] Chr2:55686333 [GRCh38]
Chr2:55913468 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.1442-159T>A single nucleotide variant not provided [RCV000833438] Chr2:55655112 [GRCh38]
Chr2:55882247 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.297+233del deletion not provided [RCV000830770] Chr2:55686137 [GRCh38]
Chr2:55913272 [GRCh37]
Chr2:2p16.1
benign
NM_033109.5(PNPT1):c.976+251T>C single nucleotide variant not provided [RCV000826220] Chr2:55671068 [GRCh38]
Chr2:55898203 [GRCh37]
Chr2:2p16.1
benign
NM_033109.5(PNPT1):c.1756T>C (p.Leu586=) single nucleotide variant not provided [RCV000835316] Chr2:55645415 [GRCh38]
Chr2:55872550 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.1822+225A>G single nucleotide variant not provided [RCV000830789] Chr2:55645124 [GRCh38]
Chr2:55872259 [GRCh37]
Chr2:2p16.1
benign
NM_033109.5:c.652A>T single nucleotide variant Neurodevelopmental disorder [RCV000787432] Chr2:2q33.1 pathogenic
NM_033109.5(PNPT1):c.1177-305C>T single nucleotide variant not provided [RCV000828619] Chr2:55662331 [GRCh38]
Chr2:55889466 [GRCh37]
Chr2:2p16.1
benign
NM_033109.5(PNPT1):c.161+135A>G single nucleotide variant not provided [RCV000835701] Chr2:55693528 [GRCh38]
Chr2:55920663 [GRCh37]
Chr2:2p16.1
benign
NM_033109.5(PNPT1):c.1073+139C>T single nucleotide variant not provided [RCV000839213] Chr2:55667723 [GRCh38]
Chr2:55894858 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.1374G>A (p.Leu458=) single nucleotide variant not provided [RCV000842480] Chr2:55656198 [GRCh38]
Chr2:55883333 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.862C>T (p.His288Tyr) single nucleotide variant not provided [RCV000829252] Chr2:55672897 [GRCh38]
Chr2:55900032 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.679+265A>G single nucleotide variant not provided [RCV000830433] Chr2:55679417 [GRCh38]
Chr2:55906552 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.526G>A (p.Ala176Thr) single nucleotide variant Combined oxidative phosphorylation defect type 13 [RCV000986759] Chr2:55680751 [GRCh38]
Chr2:55907886 [GRCh37]
Chr2:2p16.1
likely pathogenic
NM_033109.5(PNPT1):c.977-212A>G single nucleotide variant not provided [RCV000830737] Chr2:55668170 [GRCh38]
Chr2:55895305 [GRCh37]
Chr2:2p16.1
benign
NM_033109.5(PNPT1):c.1247+29C>T single nucleotide variant Autosomal recessive nonsyndromic hearing loss 70 [RCV001789380]|Combined oxidative phosphorylation defect type 13 [RCV001789379]|not provided [RCV000830783] Chr2:55661927 [GRCh38]
Chr2:55889062 [GRCh37]
Chr2:2p16.1
benign
NM_033109.5(PNPT1):c.1495+219G>A single nucleotide variant not provided [RCV000830787] Chr2:55654681 [GRCh38]
Chr2:55881816 [GRCh37]
Chr2:2p16.1
benign
NM_033109.5(PNPT1):c.1738+93A>T single nucleotide variant not provided [RCV000830788] Chr2:55646166 [GRCh38]
Chr2:55873301 [GRCh37]
Chr2:2p16.1
benign
NM_033109.5(PNPT1):c.1177-293C>T single nucleotide variant not provided [RCV000830771] Chr2:55662319 [GRCh38]
Chr2:55889454 [GRCh37]
Chr2:2p16.1
benign
NM_033109.5(PNPT1):c.867-244A>G single nucleotide variant not provided [RCV000830781] Chr2:55672290 [GRCh38]
Chr2:55899425 [GRCh37]
Chr2:2p16.1
benign
NM_033109.5(PNPT1):c.867-47T>A single nucleotide variant Autosomal recessive nonsyndromic hearing loss 70 [RCV001789378]|Combined oxidative phosphorylation defect type 13 [RCV001789377]|not provided [RCV000830782] Chr2:55672093 [GRCh38]
Chr2:55899228 [GRCh37]
Chr2:2p16.1
benign
NM_033109.5(PNPT1):c.1285-227G>T single nucleotide variant not provided [RCV000830785] Chr2:55656598 [GRCh38]
Chr2:55883733 [GRCh37]
Chr2:2p16.1
benign
NM_033109.5(PNPT1):c.1285-207G>T single nucleotide variant not provided [RCV000830786] Chr2:55656578 [GRCh38]
Chr2:55883713 [GRCh37]
Chr2:2p16.1
benign
NM_033109.5(PNPT1):c.1738+37C>G single nucleotide variant not provided [RCV000830946] Chr2:55646222 [GRCh38]
Chr2:55873357 [GRCh37]
Chr2:2p16.1
benign
NM_033109.5(PNPT1):c.1907-17C>T single nucleotide variant not provided [RCV000840739] Chr2:55643442 [GRCh38]
Chr2:55870577 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.918+201T>C single nucleotide variant not provided [RCV000843735] Chr2:55671794 [GRCh38]
Chr2:55898929 [GRCh37]
Chr2:2p16.1
benign
NM_033109.5(PNPT1):c.977-228A>G single nucleotide variant not provided [RCV000843738] Chr2:55668186 [GRCh38]
Chr2:55895321 [GRCh37]
Chr2:2p16.1
benign
NM_033109.5(PNPT1):c.1074-200C>T single nucleotide variant not provided [RCV000843739] Chr2:55667293 [GRCh38]
Chr2:55894428 [GRCh37]
Chr2:2p16.1
benign
NM_033109.5(PNPT1):c.1496-223G>A single nucleotide variant not provided [RCV000843740] Chr2:55647676 [GRCh38]
Chr2:55874811 [GRCh37]
Chr2:2p16.1
benign
NM_033109.5(PNPT1):c.222+159A>G single nucleotide variant not provided [RCV000844593] Chr2:55687486 [GRCh38]
Chr2:55914621 [GRCh37]
Chr2:2p16.1
benign
NM_033109.5(PNPT1):c.454-264C>G single nucleotide variant not provided [RCV000844597] Chr2:55681182 [GRCh38]
Chr2:55908317 [GRCh37]
Chr2:2p16.1
benign
NM_033109.5(PNPT1):c.918+200G>A single nucleotide variant not provided [RCV000844598] Chr2:55671795 [GRCh38]
Chr2:55898930 [GRCh37]
Chr2:2p16.1
benign
NM_033109.5(PNPT1):c.976+164G>C single nucleotide variant not provided [RCV000844599] Chr2:55671155 [GRCh38]
Chr2:55898290 [GRCh37]
Chr2:2p16.1
benign
NM_033109.5(PNPT1):c.918+153GTTTT[2] microsatellite not provided [RCV000830437] Chr2:55671828..55671832 [GRCh38]
Chr2:55898963..55898967 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.1925_1927del (p.Val642del) deletion Autosomal recessive nonsyndromic hearing loss 70 [RCV001332751]|not provided [RCV000992671] Chr2:55643405..55643407 [GRCh38]
Chr2:55870540..55870542 [GRCh37]
Chr2:2p16.1
uncertain significance
GRCh37/hg19 2p16.1(chr2:55847734-55969529)x3 copy number gain not provided [RCV000848369] Chr2:55847734..55969529 [GRCh37]
Chr2:2p16.1
uncertain significance
GRCh37/hg19 2p16.1(chr2:55616424-56026559)x3 copy number gain not provided [RCV001005277] Chr2:55616424..56026559 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.1619A>G (p.Asn540Ser) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 70 [RCV001249184]|not provided [RCV002069318] Chr2:55646470 [GRCh38]
Chr2:55873605 [GRCh37]
Chr2:2p16.1
pathogenic|likely benign
NM_033109.5(PNPT1):c.453+246C>T single nucleotide variant not provided [RCV001581947] Chr2:55683539 [GRCh38]
Chr2:55910674 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.1284+217T>C single nucleotide variant not provided [RCV001567438] Chr2:55659940 [GRCh38]
Chr2:55887075 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.1285-59A>G single nucleotide variant not provided [RCV001555454] Chr2:55656430 [GRCh38]
Chr2:55883565 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.565+286del deletion not provided [RCV001715887] Chr2:55680426 [GRCh38]
Chr2:55907561 [GRCh37]
Chr2:2p16.1
benign
NM_033109.5(PNPT1):c.419C>T (p.Pro140Leu) single nucleotide variant not provided [RCV001564835] Chr2:55683819 [GRCh38]
Chr2:55910954 [GRCh37]
Chr2:2p16.1
likely pathogenic
NM_033109.5(PNPT1):c.1602+189T>A single nucleotide variant not provided [RCV001659251] Chr2:55647158 [GRCh38]
Chr2:55874293 [GRCh37]
Chr2:2p16.1
benign
NM_033109.5(PNPT1):c.223-13C>T single nucleotide variant not provided [RCV001550783] Chr2:55686457 [GRCh38]
Chr2:55913592 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.1566T>A (p.Gly522=) single nucleotide variant not provided [RCV001556438] Chr2:55647383 [GRCh38]
Chr2:55874518 [GRCh37]
Chr2:2p16.1
conflicting interpretations of pathogenicity|uncertain significance
NM_033109.5(PNPT1):c.1823-221C>T single nucleotide variant not provided [RCV001672141] Chr2:55644941 [GRCh38]
Chr2:55872076 [GRCh37]
Chr2:2p16.1
benign
NM_033109.5(PNPT1):c.*298TAGA[1] microsatellite not provided [RCV001657479] Chr2:55635932..55635935 [GRCh38]
Chr2:55863067..55863070 [GRCh37]
Chr2:2p16.1
benign
NM_033109.5(PNPT1):c.*71T>C single nucleotide variant not provided [RCV001671763] Chr2:55636166 [GRCh38]
Chr2:55863301 [GRCh37]
Chr2:2p16.1
benign
NM_033109.5(PNPT1):c.1602+150A>G single nucleotide variant not provided [RCV001587482] Chr2:55647197 [GRCh38]
Chr2:55874332 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.1725T>C (p.Ile575=) single nucleotide variant not provided [RCV001587047] Chr2:55646272 [GRCh38]
Chr2:55873407 [GRCh37]
Chr2:2p16.1
benign|likely benign
NM_033109.5(PNPT1):c.1251G>T (p.Gly417=) single nucleotide variant not provided [RCV001557634] Chr2:55660190 [GRCh38]
Chr2:55887325 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.458T>G (p.Leu153Arg) single nucleotide variant not provided [RCV001889196] Chr2:55680914 [GRCh38]
Chr2:55908049 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.1074-41T>A single nucleotide variant not provided [RCV001588143] Chr2:55667134 [GRCh38]
Chr2:55894269 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.2234T>C (p.Met745Thr) single nucleotide variant not provided [RCV001531318] Chr2:55636355 [GRCh38]
Chr2:55863490 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.1881C>T (p.Asn627=) single nucleotide variant not provided [RCV000943088] Chr2:55644662 [GRCh38]
Chr2:55871797 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.789A>G (p.Val263=) single nucleotide variant not provided [RCV000910560] Chr2:55672970 [GRCh38]
Chr2:55900105 [GRCh37]
Chr2:2p16.1
benign|likely benign
NM_033109.5(PNPT1):c.298-8T>G single nucleotide variant not provided [RCV000885379] Chr2:55685056 [GRCh38]
Chr2:55912191 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.1073+8T>A single nucleotide variant not provided [RCV000915142] Chr2:55667854 [GRCh38]
Chr2:55894989 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.412A>G (p.Ile138Val) single nucleotide variant Combined oxidative phosphorylation defect type 13 [RCV001336836]|not provided [RCV000907438] Chr2:55683826 [GRCh38]
Chr2:55910961 [GRCh37]
Chr2:2p16.1
likely benign|uncertain significance
NM_033109.5(PNPT1):c.2043A>G (p.Val681=) single nucleotide variant not provided [RCV000981323] Chr2:55643184 [GRCh38]
Chr2:55870319 [GRCh37]
Chr2:2p16.1
benign|likely benign
NM_033109.5(PNPT1):c.129G>A (p.Gly43=) single nucleotide variant not provided [RCV000918650] Chr2:55693695 [GRCh38]
Chr2:55920830 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.1399C>T (p.Pro467Ser) single nucleotide variant Combined oxidative phosphorylation defect type 13 [RCV001527689]|not provided [RCV001090966] Chr2:55656173 [GRCh38]
Chr2:55883308 [GRCh37]
Chr2:2p16.1
pathogenic|likely pathogenic|uncertain significance
NM_033109.5(PNPT1):c.21C>T (p.Cys7=) single nucleotide variant not provided [RCV000933716] Chr2:55693803 [GRCh38]
Chr2:55920938 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.1022A>G (p.Asn341Ser) single nucleotide variant not provided [RCV001557386] Chr2:55667913 [GRCh38]
Chr2:55895048 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.1583G>A (p.Arg528His) single nucleotide variant not provided [RCV001548276] Chr2:55647366 [GRCh38]
Chr2:55874501 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.2197-35G>C single nucleotide variant not provided [RCV001563348] Chr2:55636427 [GRCh38]
Chr2:55863562 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.1382T>C (p.Val461Ala) single nucleotide variant not provided [RCV001558639] Chr2:55656190 [GRCh38]
Chr2:55883325 [GRCh37]
Chr2:2p16.1
conflicting interpretations of pathogenicity|uncertain significance
NM_033109.5(PNPT1):c.192C>G (p.Ala64=) single nucleotide variant not provided [RCV001552558] Chr2:55687675 [GRCh38]
Chr2:55914810 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.1177-175T>C single nucleotide variant not provided [RCV001544772] Chr2:55662201 [GRCh38]
Chr2:55889336 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.298-13A>G single nucleotide variant not provided [RCV001718030] Chr2:55685061 [GRCh38]
Chr2:55912196 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.453+172del deletion not provided [RCV001591955] Chr2:55683613 [GRCh38]
Chr2:55910748 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.1284+421C>T single nucleotide variant not provided [RCV001716841] Chr2:55659736 [GRCh38]
Chr2:55886871 [GRCh37]
Chr2:2p16.1
benign
NM_033109.5(PNPT1):c.1907-137A>G single nucleotide variant not provided [RCV001675329] Chr2:55643562 [GRCh38]
Chr2:55870697 [GRCh37]
Chr2:2p16.1
benign
NM_033109.5(PNPT1):c.1907-314del deletion not provided [RCV001608609] Chr2:55643739 [GRCh38]
Chr2:55870874 [GRCh37]
Chr2:2p16.1
benign
NM_033109.5(PNPT1):c.1823-226C>T single nucleotide variant not provided [RCV001536868] Chr2:55644946 [GRCh38]
Chr2:55872081 [GRCh37]
Chr2:2p16.1
benign
NM_033109.5(PNPT1):c.1073+276del deletion not provided [RCV001597766] Chr2:55667586 [GRCh38]
Chr2:55894721 [GRCh37]
Chr2:2p16.1
benign
NM_033109.5(PNPT1):c.1495+55_1495+80del deletion not provided [RCV001597666] Chr2:55654820..55654845 [GRCh38]
Chr2:55881955..55881980 [GRCh37]
Chr2:2p16.1
benign
NM_033109.5(PNPT1):c.*260_*261del deletion not provided [RCV001656269] Chr2:55635976..55635977 [GRCh38]
Chr2:55863111..55863112 [GRCh37]
Chr2:2p16.1
benign
NM_033109.5(PNPT1):c.1470C>T (p.Gly490=) single nucleotide variant not provided [RCV001592124] Chr2:55654925 [GRCh38]
Chr2:55882060 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.1074-228C>T single nucleotide variant not provided [RCV001693846] Chr2:55667321 [GRCh38]
Chr2:55894456 [GRCh37]
Chr2:2p16.1
benign
NM_033109.5(PNPT1):c.453+154dup duplication not provided [RCV001710284] Chr2:55683612..55683613 [GRCh38]
Chr2:55910747..55910748 [GRCh37]
Chr2:2p16.1
benign
NM_033109.5(PNPT1):c.2070-98T>C single nucleotide variant not provided [RCV001657029] Chr2:55640803 [GRCh38]
Chr2:55867938 [GRCh37]
Chr2:2p16.1
benign
NM_033109.5(PNPT1):c.1176+36T>C single nucleotide variant not provided [RCV001714529] Chr2:55666955 [GRCh38]
Chr2:55894090 [GRCh37]
Chr2:2p16.1
benign
NM_033109.5(PNPT1):c.679+49C>G single nucleotide variant not provided [RCV001548283] Chr2:55679633 [GRCh38]
Chr2:55906768 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.918+38A>G single nucleotide variant not provided [RCV001583184] Chr2:55671957 [GRCh38]
Chr2:55899092 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.1603-291_1603-288del deletion not provided [RCV001650146] Chr2:55646774..55646777 [GRCh38]
Chr2:55873909..55873912 [GRCh37]
Chr2:2p16.1
benign
NM_033109.5(PNPT1):c.1284+116A>G single nucleotide variant not provided [RCV001685702] Chr2:55660041 [GRCh38]
Chr2:55887176 [GRCh37]
Chr2:2p16.1
benign
NM_033109.5(PNPT1):c.137C>G (p.Ala46Gly) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 70 [RCV001249183]|not provided [RCV002069317] Chr2:55693687 [GRCh38]
Chr2:55920822 [GRCh37]
Chr2:2p16.1
likely pathogenic|likely benign
NM_033109.5(PNPT1):c.194G>C (p.Arg65Thr) single nucleotide variant not provided [RCV001036905] Chr2:55687673 [GRCh38]
Chr2:55914808 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.680-3T>A single nucleotide variant not provided [RCV001036906] Chr2:55673082 [GRCh38]
Chr2:55900217 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.297+299C>T single nucleotide variant not provided [RCV001580971] Chr2:55686071 [GRCh38]
Chr2:55913206 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.1176+41A>T single nucleotide variant not provided [RCV001581225] Chr2:55666950 [GRCh38]
Chr2:55894085 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.1121T>C (p.Val374Ala) single nucleotide variant Combined oxidative phosphorylation defect type 13 [RCV001332752]|not provided [RCV001865768] Chr2:55667046 [GRCh38]
Chr2:55894181 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.1676C>G (p.Ala559Gly) single nucleotide variant Combined oxidative phosphorylation defect type 13 [RCV001332753]|not provided [RCV001760432] Chr2:55646321 [GRCh38]
Chr2:55873456 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.1390C>T (p.Arg464Ter) single nucleotide variant Inborn genetic diseases [RCV001266514] Chr2:55656182 [GRCh38]
Chr2:55883317 [GRCh37]
Chr2:2p16.1
pathogenic
NM_033109.5(PNPT1):c.2012A>T (p.Asp671Val) single nucleotide variant Combined oxidative phosphorylation defect type 13 [RCV001336832] Chr2:55643320 [GRCh38]
Chr2:55870455 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.2147A>G (p.Lys716Arg) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 70 [RCV001336833]|not provided [RCV001776203] Chr2:55640628 [GRCh38]
Chr2:55867763 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.274C>G (p.Pro92Ala) single nucleotide variant Combined oxidative phosphorylation defect type 13 [RCV001336834] Chr2:55686393 [GRCh38]
Chr2:55913528 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.1906+1G>A single nucleotide variant Combined oxidative phosphorylation defect type 13 [RCV001332754] Chr2:55644636 [GRCh38]
Chr2:55871771 [GRCh37]
Chr2:2p16.1
likely pathogenic
NM_033109.5(PNPT1):c.918del (p.Val307fs) deletion Autosomal recessive nonsyndromic hearing loss 70 [RCV001336838] Chr2:55671995 [GRCh38]
Chr2:55899130 [GRCh37]
Chr2:2p16.1
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_033109.5(PNPT1):c.2039C>T (p.Ala680Val) single nucleotide variant not provided [RCV001314418] Chr2:55643188 [GRCh38]
Chr2:55870323 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.298-2A>T single nucleotide variant Autosomal recessive nonsyndromic hearing loss 70 [RCV001336835] Chr2:55685050 [GRCh38]
Chr2:55912185 [GRCh37]
Chr2:2p16.1
pathogenic
NC_000002.11:g.(?_55910900)_(55920958_?)dup duplication not provided [RCV001341198] Chr2:55910900..55920958 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.1099C>T (p.Leu367Phe) single nucleotide variant not provided [RCV001472931] Chr2:55667068 [GRCh38]
Chr2:55894203 [GRCh37]
Chr2:2p16.1
likely benign|conflicting interpretations of pathogenicity
NM_033109.5(PNPT1):c.1780T>G (p.Ser594Ala) single nucleotide variant not provided [RCV001471540] Chr2:55645391 [GRCh38]
Chr2:55872526 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.1231G>A (p.Val411Ile) single nucleotide variant not provided [RCV001588589] Chr2:55661972 [GRCh38]
Chr2:55889107 [GRCh37]
Chr2:2p16.1
benign|likely benign
NM_033109.5(PNPT1):c.222+196dup duplication not provided [RCV001715247] Chr2:55687438..55687439 [GRCh38]
Chr2:55914573..55914574 [GRCh37]
Chr2:2p16.1
benign
NM_033109.5(PNPT1):c.680-245T>C single nucleotide variant not provided [RCV001698839] Chr2:55673324 [GRCh38]
Chr2:55900459 [GRCh37]
Chr2:2p16.1
benign
NM_033109.5(PNPT1):c.872C>T (p.Ala291Val) single nucleotide variant not provided [RCV001755366] Chr2:55672041 [GRCh38]
Chr2:55899176 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.251C>T (p.Ala84Val) single nucleotide variant not provided [RCV001755412] Chr2:55686416 [GRCh38]
Chr2:55913551 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.1913C>T (p.Thr638Ile) single nucleotide variant not provided [RCV001755368] Chr2:55643419 [GRCh38]
Chr2:55870554 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.1066T>C (p.Tyr356His) single nucleotide variant not provided [RCV001757351] Chr2:55667869 [GRCh38]
Chr2:55895004 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.1189G>A (p.Val397Ile) single nucleotide variant not provided [RCV001768054] Chr2:55662014 [GRCh38]
Chr2:55889149 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.2261C>T (p.Ser754Leu) single nucleotide variant not provided [RCV001757461] Chr2:55636328 [GRCh38]
Chr2:55863463 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.1471G>A (p.Gly491Arg) single nucleotide variant not provided [RCV001806634] Chr2:55654924 [GRCh38]
Chr2:55882059 [GRCh37]
Chr2:2p16.1
uncertain significance
NC_000002.11:g.(?_55910900)_(55920958_?)del deletion not provided [RCV001983026] Chr2:55910900..55920958 [GRCh37]
Chr2:2p16.1
pathogenic
NM_033109.5(PNPT1):c.2223C>T (p.Ala741=) single nucleotide variant not provided [RCV001915178] Chr2:55636366 [GRCh38]
Chr2:55863501 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.1754T>C (p.Ile585Thr) single nucleotide variant not provided [RCV001874818] Chr2:55645417 [GRCh38]
Chr2:55872552 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.1451C>G (p.Ser484Cys) single nucleotide variant not provided [RCV002045137] Chr2:55654944 [GRCh38]
Chr2:55882079 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.1552G>A (p.Asp518Asn) single nucleotide variant not provided [RCV001863534] Chr2:55647397 [GRCh38]
Chr2:55874532 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.703A>G (p.Asn235Asp) single nucleotide variant not provided [RCV001914685] Chr2:55673056 [GRCh38]
Chr2:55900191 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.893T>A (p.Val298Asp) single nucleotide variant not provided [RCV002009259] Chr2:55672020 [GRCh38]
Chr2:55899155 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.297+2dup duplication not provided [RCV001912590] Chr2:55686367..55686368 [GRCh38]
Chr2:55913502..55913503 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.590A>G (p.Asp197Gly) single nucleotide variant not provided [RCV002024744] Chr2:55679771 [GRCh38]
Chr2:55906906 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.571G>A (p.Val191Ile) single nucleotide variant not provided [RCV001929231] Chr2:55679790 [GRCh38]
Chr2:55906925 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.491A>G (p.Glu164Gly) single nucleotide variant not provided [RCV001895244] Chr2:55680881 [GRCh38]
Chr2:55908016 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.1456G>T (p.Ala486Ser) single nucleotide variant not provided [RCV001971131] Chr2:55654939 [GRCh38]
Chr2:55882074 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.2303G>T (p.Ser768Ile) single nucleotide variant not provided [RCV002005805] Chr2:55636286 [GRCh38]
Chr2:55863421 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.190G>A (p.Ala64Thr) single nucleotide variant not provided [RCV002044392] Chr2:55687677 [GRCh38]
Chr2:55914812 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.475G>C (p.Val159Leu) single nucleotide variant not provided [RCV001987395] Chr2:55680897 [GRCh38]
Chr2:55908032 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.2336C>T (p.Ser779Leu) single nucleotide variant not provided [RCV001971342] Chr2:55636253 [GRCh38]
Chr2:55863388 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.2207T>G (p.Phe736Cys) single nucleotide variant not provided [RCV001988068] Chr2:55636382 [GRCh38]
Chr2:55863517 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.397A>G (p.Ile133Val) single nucleotide variant not provided [RCV002044500] Chr2:55684949 [GRCh38]
Chr2:55912084 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.383T>C (p.Ile128Thr) single nucleotide variant not provided [RCV001950649] Chr2:55684963 [GRCh38]
Chr2:55912098 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.2293G>A (p.Asp765Asn) single nucleotide variant not provided [RCV001913482] Chr2:55636296 [GRCh38]
Chr2:55863431 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.1862T>C (p.Val621Ala) single nucleotide variant not provided [RCV001863554] Chr2:55644681 [GRCh38]
Chr2:55871816 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.404A>T (p.Asp135Val) single nucleotide variant not provided [RCV001946149] Chr2:55683834 [GRCh38]
Chr2:55910969 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.2212C>T (p.Arg738Cys) single nucleotide variant not provided [RCV001947541] Chr2:55636377 [GRCh38]
Chr2:55863512 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.1085G>A (p.Arg362Gln) single nucleotide variant not provided [RCV002040129] Chr2:55667082 [GRCh38]
Chr2:55894217 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.1945G>A (p.Val649Ile) single nucleotide variant not provided [RCV002023209] Chr2:55643387 [GRCh38]
Chr2:55870522 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.161+12C>G single nucleotide variant not provided [RCV001968971] Chr2:55693651 [GRCh38]
Chr2:55920786 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.959C>T (p.Thr320Met) single nucleotide variant not provided [RCV001948122] Chr2:55671336 [GRCh38]
Chr2:55898471 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.281A>G (p.Gln94Arg) single nucleotide variant not provided [RCV001968226] Chr2:55686386 [GRCh38]
Chr2:55913521 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.1259A>G (p.Asp420Gly) single nucleotide variant not provided [RCV001893029] Chr2:55660182 [GRCh38]
Chr2:55887317 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.41_46dup (p.Arg14_Pro15dup) duplication not provided [RCV001871108] Chr2:55693777..55693778 [GRCh38]
Chr2:55920912..55920913 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.745G>A (p.Val249Met) single nucleotide variant not provided [RCV001825312] Chr2:55673014 [GRCh38]
Chr2:55900149 [GRCh37]
Chr2:2p16.1
likely benign|not provided
NM_033109.5(PNPT1):c.472G>T (p.Ala158Ser) single nucleotide variant not provided [RCV001966625] Chr2:55680900 [GRCh38]
Chr2:55908035 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.40C>T (p.Arg14Trp) single nucleotide variant not provided [RCV001840873] Chr2:55693784 [GRCh38]
Chr2:55920919 [GRCh37]
Chr2:2p16.1
conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 2p16.1(chr2:55588867-56935857) copy number loss not specified [RCV002052759] Chr2:55588867..56935857 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.668A>G (p.Lys223Arg) single nucleotide variant not provided [RCV001985231] Chr2:55679693 [GRCh38]
Chr2:55906828 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.29G>A (p.Cys10Tyr) single nucleotide variant not provided [RCV001946350] Chr2:55693795 [GRCh38]
Chr2:55920930 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.26C>G (p.Ser9Trp) single nucleotide variant not provided [RCV001913599] Chr2:55693798 [GRCh38]
Chr2:55920933 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.1895A>G (p.Gln632Arg) single nucleotide variant not provided [RCV002007784] Chr2:55644648 [GRCh38]
Chr2:55871783 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.1692T>A (p.Pro564=) single nucleotide variant not provided [RCV002007844] Chr2:55646305 [GRCh38]
Chr2:55873440 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.1982G>A (p.Arg661Lys) single nucleotide variant not provided [RCV002040247] Chr2:55643350 [GRCh38]
Chr2:55870485 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.2144G>A (p.Arg715Gln) single nucleotide variant not provided [RCV001970533] Chr2:55640631 [GRCh38]
Chr2:55867766 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.679+6T>C single nucleotide variant not provided [RCV001945311] Chr2:55679676 [GRCh38]
Chr2:55906811 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.1381G>A (p.Val461Ile) single nucleotide variant not provided [RCV001927324] Chr2:55656191 [GRCh38]
Chr2:55883326 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.1147T>G (p.Ser383Ala) single nucleotide variant not provided [RCV002023250] Chr2:55667020 [GRCh38]
Chr2:55894155 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.1352-5T>C single nucleotide variant not provided [RCV002020650] Chr2:55656225 [GRCh38]
Chr2:55883360 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.371C>T (p.Ser124Phe) single nucleotide variant not provided [RCV001870675] Chr2:55684975 [GRCh38]
Chr2:55912110 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.1814C>T (p.Pro605Leu) single nucleotide variant not provided [RCV001986743] Chr2:55645357 [GRCh38]
Chr2:55872492 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.162-1G>A single nucleotide variant not provided [RCV002024472] Chr2:55687706 [GRCh38]
Chr2:55914841 [GRCh37]
Chr2:2p16.1
likely pathogenic
NM_033109.5(PNPT1):c.1432G>C (p.Glu478Gln) single nucleotide variant not provided [RCV001908735] Chr2:55656140 [GRCh38]
Chr2:55883275 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.1795T>A (p.Ser599Thr) single nucleotide variant not provided [RCV001823339] Chr2:55645376 [GRCh38]
Chr2:55872511 [GRCh37]
Chr2:2p16.1
conflicting interpretations of pathogenicity|uncertain significance
NM_033109.5(PNPT1):c.233C>A (p.Thr78Asn) single nucleotide variant not provided [RCV001872799] Chr2:55686434 [GRCh38]
Chr2:55913569 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.496G>A (p.Asp166Asn) single nucleotide variant Combined oxidative phosphorylation defect type 13 [RCV001823517] Chr2:55680876 [GRCh38]
Chr2:55908011 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.162G>A (p.Arg54=) single nucleotide variant not provided [RCV001946081] Chr2:55687705 [GRCh38]
Chr2:55914840 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.959C>G (p.Thr320Arg) single nucleotide variant not provided [RCV001965783] Chr2:55671336 [GRCh38]
Chr2:55898471 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.833C>G (p.Thr278Ser) single nucleotide variant not provided [RCV001893220] Chr2:55672926 [GRCh38]
Chr2:55900061 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.1834G>T (p.Val612Phe) single nucleotide variant not provided [RCV002002195] Chr2:55644709 [GRCh38]
Chr2:55871844 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.10T>G (p.Cys4Gly) single nucleotide variant not provided [RCV001986406] Chr2:55693814 [GRCh38]
Chr2:55920949 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.1355C>T (p.Ala452Val) single nucleotide variant not provided [RCV001986426] Chr2:55656217 [GRCh38]
Chr2:55883352 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.1552G>T (p.Asp518Tyr) single nucleotide variant not provided [RCV001984525] Chr2:55647397 [GRCh38]
Chr2:55874532 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.2075C>T (p.Thr692Ile) single nucleotide variant not provided [RCV002040696] Chr2:55640700 [GRCh38]
Chr2:55867835 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.1003G>A (p.Glu335Lys) single nucleotide variant not provided [RCV001911527] Chr2:55667932 [GRCh38]
Chr2:55895067 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.34C>T (p.Arg12Trp) single nucleotide variant not provided [RCV001965132] Chr2:55693790 [GRCh38]
Chr2:55920925 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.563T>C (p.Val188Ala) single nucleotide variant not provided [RCV002039394] Chr2:55680714 [GRCh38]
Chr2:55907849 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.395G>A (p.Arg132Gln) single nucleotide variant not provided [RCV001843658] Chr2:55684951 [GRCh38]
Chr2:55912086 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.875T>C (p.Met292Thr) single nucleotide variant not provided [RCV001945692] Chr2:55672038 [GRCh38]
Chr2:55899173 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.1702A>G (p.Ile568Val) single nucleotide variant not provided [RCV001886601] Chr2:55646295 [GRCh38]
Chr2:55873430 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.875T>G (p.Met292Arg) single nucleotide variant not provided [RCV001962374] Chr2:55672038 [GRCh38]
Chr2:55899173 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.626T>C (p.Met209Thr) single nucleotide variant not provided [RCV001943924] Chr2:55679735 [GRCh38]
Chr2:55906870 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.1738+6C>T single nucleotide variant not provided [RCV001963721] Chr2:55646253 [GRCh38]
Chr2:55873388 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.2224G>A (p.Asp742Asn) single nucleotide variant not provided [RCV001944032] Chr2:55636365 [GRCh38]
Chr2:55863500 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.2148+16T>G single nucleotide variant not provided [RCV002001189] Chr2:55640611 [GRCh38]
Chr2:55867746 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.103G>A (p.Val35Met) single nucleotide variant not provided [RCV001886390] Chr2:55693721 [GRCh38]
Chr2:55920856 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.1748dup (p.Glu584fs) duplication Autosomal recessive nonsyndromic hearing loss 70 [RCV002265053]|not provided [RCV001962920] Chr2:55645422..55645423 [GRCh38]
Chr2:55872557..55872558 [GRCh37]
Chr2:2p16.1
pathogenic
NM_033109.5(PNPT1):c.632C>G (p.Ser211Cys) single nucleotide variant not provided [RCV002019836] Chr2:55679729 [GRCh38]
Chr2:55906864 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.2345C>G (p.Ser782Cys) single nucleotide variant not provided [RCV002051437] Chr2:55636244 [GRCh38]
Chr2:55863379 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.923C>G (p.Ser308Cys) single nucleotide variant not provided [RCV001940903] Chr2:55671372 [GRCh38]
Chr2:55898507 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.1304A>G (p.Asn435Ser) single nucleotide variant not provided [RCV001898645] Chr2:55656352 [GRCh38]
Chr2:55883487 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.919-12A>G single nucleotide variant not provided [RCV002016941] Chr2:55671388 [GRCh38]
Chr2:55898523 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.637A>T (p.Thr213Ser) single nucleotide variant not provided [RCV001963536] Chr2:55679724 [GRCh38]
Chr2:55906859 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.967C>A (p.Gln323Lys) single nucleotide variant not provided [RCV001905067] Chr2:55671328 [GRCh38]
Chr2:55898463 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.1073+6C>G single nucleotide variant not provided [RCV001865106] Chr2:55667856 [GRCh38]
Chr2:55894991 [GRCh37]
Chr2:2p16.1
uncertain significance
NC_000002.11:g.(?_55912058)_(55920958_?)dup duplication not provided [RCV001923346] Chr2:55912058..55920958 [GRCh37]
Chr2:2p16.1
uncertain significance
NC_000002.11:g.(?_55863372)_(55873641_?)dup duplication not provided [RCV001923347] Chr2:55863372..55873641 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.859A>G (p.Thr287Ala) single nucleotide variant not provided [RCV001888881] Chr2:55672900 [GRCh38]
Chr2:55900035 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.16T>A (p.Tyr6Asn) single nucleotide variant not provided [RCV002019496] Chr2:55693808 [GRCh38]
Chr2:55920943 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.583A>G (p.Ile195Val) single nucleotide variant not provided [RCV001977882] Chr2:55679778 [GRCh38]
Chr2:55906913 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.1755A>G (p.Ile585Met) single nucleotide variant not provided [RCV001887114] Chr2:55645416 [GRCh38]
Chr2:55872551 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.874A>G (p.Met292Val) single nucleotide variant not provided [RCV001904834] Chr2:55672039 [GRCh38]
Chr2:55899174 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.161+5G>A single nucleotide variant not provided [RCV001941108] Chr2:55693658 [GRCh38]
Chr2:55920793 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.454G>A (p.Val152Ile) single nucleotide variant not provided [RCV001951637] Chr2:55680918 [GRCh38]
Chr2:55908053 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.2275G>A (p.Val759Met) single nucleotide variant not provided [RCV001992136] Chr2:55636314 [GRCh38]
Chr2:55863449 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.818C>A (p.Pro273His) single nucleotide variant not provided [RCV001900296] Chr2:55672941 [GRCh38]
Chr2:55900076 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.430G>A (p.Ala144Thr) single nucleotide variant not provided [RCV002031508] Chr2:55683808 [GRCh38]
Chr2:55910943 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.610C>G (p.Pro204Ala) single nucleotide variant not provided [RCV001979138] Chr2:55679751 [GRCh38]
Chr2:55906886 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.867-3T>C single nucleotide variant not provided [RCV001932472] Chr2:55672049 [GRCh38]
Chr2:55899184 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.892G>A (p.Val298Ile) single nucleotide variant not provided [RCV002049568] Chr2:55672021 [GRCh38]
Chr2:55899156 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.1441+4T>A single nucleotide variant not provided [RCV001877723] Chr2:55656127 [GRCh38]
Chr2:55883262 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.736A>G (p.Lys246Glu) single nucleotide variant not provided [RCV001995726] Chr2:55673023 [GRCh38]
Chr2:55900158 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.466C>G (p.Leu156Val) single nucleotide variant not provided [RCV001921332] Chr2:55680906 [GRCh38]
Chr2:55908041 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.1084C>T (p.Arg362Trp) single nucleotide variant not provided [RCV001993855] Chr2:55667083 [GRCh38]
Chr2:55894218 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.562G>C (p.Val188Leu) single nucleotide variant not provided [RCV001974319] Chr2:55680715 [GRCh38]
Chr2:55907850 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.673C>G (p.Gln225Glu) single nucleotide variant not provided [RCV001953349] Chr2:55679688 [GRCh38]
Chr2:55906823 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.1117G>C (p.Glu373Gln) single nucleotide variant not provided [RCV001974425] Chr2:55667050 [GRCh38]
Chr2:55894185 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.1758A>C (p.Leu586Phe) single nucleotide variant not provided [RCV002013368] Chr2:55645413 [GRCh38]
Chr2:55872548 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.919-1G>T single nucleotide variant not provided [RCV001990268] Chr2:55671377 [GRCh38]
Chr2:55898512 [GRCh37]
Chr2:2p16.1
likely pathogenic
NM_033109.5(PNPT1):c.1553A>G (p.Asp518Gly) single nucleotide variant not provided [RCV002031792] Chr2:55647396 [GRCh38]
Chr2:55874531 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.1907G>A (p.Gly636Asp) single nucleotide variant not provided [RCV001875420] Chr2:55643425 [GRCh38]
Chr2:55870560 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.1087G>T (p.Asp363Tyr) single nucleotide variant not provided [RCV002027730] Chr2:55667080 [GRCh38]
Chr2:55894215 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.893T>C (p.Val298Ala) single nucleotide variant not provided [RCV002051220] Chr2:55672020 [GRCh38]
Chr2:55899155 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.740T>A (p.Val247Glu) single nucleotide variant not provided [RCV001934585] Chr2:55673019 [GRCh38]
Chr2:55900154 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.376A>G (p.Lys126Glu) single nucleotide variant not provided [RCV001922291] Chr2:55684970 [GRCh38]
Chr2:55912105 [GRCh37]
Chr2:2p16.1
uncertain significance
NC_000002.11:g.(?_55863372)_(56149575_?)del deletion not provided [RCV001951544] Chr2:55863372..56149575 [GRCh37]
Chr2:2p16.1
pathogenic
NM_033109.5(PNPT1):c.1057T>A (p.Leu353Met) single nucleotide variant not provided [RCV001919054] Chr2:55667878 [GRCh38]
Chr2:55895013 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.2231G>A (p.Arg744Lys) single nucleotide variant not provided [RCV001880328] Chr2:55636358 [GRCh38]
Chr2:55863493 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.1441+3A>G single nucleotide variant not provided [RCV002010479] Chr2:55656128 [GRCh38]
Chr2:55883263 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.1180C>A (p.Leu394Ile) single nucleotide variant not provided [RCV001953227] Chr2:55662023 [GRCh38]
Chr2:55889158 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.886T>C (p.Tyr296His) single nucleotide variant not provided [RCV001959224] Chr2:55672027 [GRCh38]
Chr2:55899162 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.1972C>T (p.His658Tyr) single nucleotide variant not provided [RCV001899455] Chr2:55643360 [GRCh38]
Chr2:55870495 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.649G>A (p.Val217Met) single nucleotide variant not provided [RCV001920917] Chr2:55679712 [GRCh38]
Chr2:55906847 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.67C>A (p.Leu23Met) single nucleotide variant not provided [RCV001957971] Chr2:55693757 [GRCh38]
Chr2:55920892 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.2196+6T>C single nucleotide variant not provided [RCV002012103] Chr2:55637546 [GRCh38]
Chr2:55864681 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.1033A>G (p.Lys345Glu) single nucleotide variant not provided [RCV001952283] Chr2:55667902 [GRCh38]
Chr2:55895037 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.1913C>G (p.Thr638Ser) single nucleotide variant not provided [RCV002017309] Chr2:55643419 [GRCh38]
Chr2:55870554 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.2335T>C (p.Ser779Pro) single nucleotide variant not provided [RCV001884090] Chr2:55636254 [GRCh38]
Chr2:55863389 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.1044T>A (p.Phe348Leu) single nucleotide variant not provided [RCV001884725] Chr2:55667891 [GRCh38]
Chr2:55895026 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.839C>T (p.Ser280Leu) single nucleotide variant not provided [RCV002019731] Chr2:55672920 [GRCh38]
Chr2:55900055 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.1408A>G (p.Ile470Val) single nucleotide variant not provided [RCV001898771] Chr2:55656164 [GRCh38]
Chr2:55883299 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.65T>A (p.Leu22His) single nucleotide variant not provided [RCV001881913] Chr2:55693759 [GRCh38]
Chr2:55920894 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.162-4A>G single nucleotide variant not provided [RCV001989500] Chr2:55687709 [GRCh38]
Chr2:55914844 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.498T>A (p.Asp166Glu) single nucleotide variant not provided [RCV001995335] Chr2:55680874 [GRCh38]
Chr2:55908009 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.1772A>C (p.Lys591Thr) single nucleotide variant not provided [RCV002050421] Chr2:55645399 [GRCh38]
Chr2:55872534 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.1706A>C (p.Lys569Thr) single nucleotide variant not provided [RCV001924177] Chr2:55646291 [GRCh38]
Chr2:55873426 [GRCh37]
Chr2:2p16.1
uncertain significance
NC_000002.11:g.(?_55863372)_(55920958_?)dup duplication not provided [RCV001996628] Chr2:55863372..55920958 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.1937C>T (p.Thr646Met) single nucleotide variant not provided [RCV001959325] Chr2:55643395 [GRCh38]
Chr2:55870530 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.1589T>G (p.Leu530Arg) single nucleotide variant not provided [RCV001997438] Chr2:55647360 [GRCh38]
Chr2:55874495 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.1915A>G (p.Ile639Val) single nucleotide variant not provided [RCV001906025] Chr2:55643417 [GRCh38]
Chr2:55870552 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.762A>G (p.Gln254=) single nucleotide variant not provided [RCV002017415] Chr2:55672997 [GRCh38]
Chr2:55900132 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.1081G>T (p.Gly361Cys) single nucleotide variant not provided [RCV001981156] Chr2:55667086 [GRCh38]
Chr2:55894221 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.918+4G>C single nucleotide variant not provided [RCV001878966] Chr2:55671991 [GRCh38]
Chr2:55899126 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.622G>C (p.Glu208Gln) single nucleotide variant not provided [RCV002033004] Chr2:55679739 [GRCh38]
Chr2:55906874 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.2348del (p.Gln783fs) deletion not provided [RCV002014933] Chr2:55636241 [GRCh38]
Chr2:55863376 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.866A>G (p.Lys289Arg) single nucleotide variant not provided [RCV001995597] Chr2:55672893 [GRCh38]
Chr2:55900028 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.2188G>A (p.Glu730Lys) single nucleotide variant not provided [RCV002013366] Chr2:55637560 [GRCh38]
Chr2:55864695 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.1027G>C (p.Val343Leu) single nucleotide variant not provided [RCV002015172] Chr2:55667908 [GRCh38]
Chr2:55895043 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.1325G>A (p.Gly442Asp) single nucleotide variant not provided [RCV001930468] Chr2:55656331 [GRCh38]
Chr2:55883466 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.1475G>A (p.Ser492Asn) single nucleotide variant not provided [RCV001881227] Chr2:55654920 [GRCh38]
Chr2:55882055 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.1571T>C (p.Ile524Thr) single nucleotide variant not provided [RCV001937377] Chr2:55647378 [GRCh38]
Chr2:55874513 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.1785A>C (p.Lys595Asn) single nucleotide variant not provided [RCV001917830] Chr2:55645386 [GRCh38]
Chr2:55872521 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.1357C>T (p.Leu453Phe) single nucleotide variant not provided [RCV001922948] Chr2:55656215 [GRCh38]
Chr2:55883350 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.337C>T (p.Pro113Ser) single nucleotide variant not provided [RCV002032058] Chr2:55685009 [GRCh38]
Chr2:55912144 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.1693G>C (p.Gly565Arg) single nucleotide variant not provided [RCV001930739] Chr2:55646304 [GRCh38]
Chr2:55873439 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.85G>A (p.Ala29Thr) single nucleotide variant not provided [RCV001937736] Chr2:55693739 [GRCh38]
Chr2:55920874 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.904T>C (p.Tyr302His) single nucleotide variant not provided [RCV001903366] Chr2:55672009 [GRCh38]
Chr2:55899144 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.13A>C (p.Arg5=) single nucleotide variant not provided [RCV002206722] Chr2:55693811 [GRCh38]
Chr2:55920946 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.2014-19G>C single nucleotide variant not provided [RCV002189019] Chr2:55643232 [GRCh38]
Chr2:55870367 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.1728A>G (p.Gln576=) single nucleotide variant not provided [RCV002104411] Chr2:55646269 [GRCh38]
Chr2:55873404 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.993C>T (p.Ala331=) single nucleotide variant not provided [RCV002166657] Chr2:55667942 [GRCh38]
Chr2:55895077 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.1746A>G (p.Lys582=) single nucleotide variant not provided [RCV002109065] Chr2:55645425 [GRCh38]
Chr2:55872560 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.907G>A (p.Glu303Lys) single nucleotide variant not provided [RCV002110912] Chr2:55672006 [GRCh38]
Chr2:55899141 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.2196+16C>T single nucleotide variant not provided [RCV002209479] Chr2:55637536 [GRCh38]
Chr2:55864671 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.1524C>A (p.Gly508=) single nucleotide variant not provided [RCV002089488] Chr2:55647425 [GRCh38]
Chr2:55874560 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.2274C>T (p.Thr758=) single nucleotide variant not provided [RCV002071359] Chr2:55636315 [GRCh38]
Chr2:55863450 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.453+12T>C single nucleotide variant not provided [RCV002146093] Chr2:55683773 [GRCh38]
Chr2:55910908 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.404-11dup duplication not provided [RCV002128357] Chr2:55683844..55683845 [GRCh38]
Chr2:55910979..55910980 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.1869T>G (p.Pro623=) single nucleotide variant not provided [RCV002110115] Chr2:55644674 [GRCh38]
Chr2:55871809 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.1296T>C (p.Tyr432=) single nucleotide variant not provided [RCV002188026] Chr2:55656360 [GRCh38]
Chr2:55883495 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.403+11A>G single nucleotide variant not provided [RCV002092511] Chr2:55684932 [GRCh38]
Chr2:55912067 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.1602+14C>T single nucleotide variant not provided [RCV002188231] Chr2:55647333 [GRCh38]
Chr2:55874468 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.1284+13T>G single nucleotide variant not provided [RCV002090506] Chr2:55660144 [GRCh38]
Chr2:55887279 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.1442-5T>C single nucleotide variant not provided [RCV002188872] Chr2:55654958 [GRCh38]
Chr2:55882093 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.1248-13C>G single nucleotide variant not provided [RCV002188925] Chr2:55660206 [GRCh38]
Chr2:55887341 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.1906+10G>C single nucleotide variant not provided [RCV002205590] Chr2:55644627 [GRCh38]
Chr2:55871762 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.339C>T (p.Pro113=) single nucleotide variant not provided [RCV002209866] Chr2:55685007 [GRCh38]
Chr2:55912142 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.404-25_404-17del deletion not provided [RCV002167821] Chr2:55683851..55683859 [GRCh38]
Chr2:55910986..55910994 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.1032A>G (p.Ala344=) single nucleotide variant not provided [RCV002092367] Chr2:55667903 [GRCh38]
Chr2:55895038 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.453+18T>G single nucleotide variant not provided [RCV002085543] Chr2:55683767 [GRCh38]
Chr2:55910902 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.1551C>G (p.Thr517=) single nucleotide variant not provided [RCV002164992] Chr2:55647398 [GRCh38]
Chr2:55874533 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.1285-20T>G single nucleotide variant not provided [RCV002150350] Chr2:55656391 [GRCh38]
Chr2:55883526 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.1285-10T>G single nucleotide variant not provided [RCV002114755] Chr2:55656381 [GRCh38]
Chr2:55883516 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.279C>T (p.Ser93=) single nucleotide variant not provided [RCV002117013] Chr2:55686388 [GRCh38]
Chr2:55913523 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.1495+18C>G single nucleotide variant not provided [RCV002135119] Chr2:55654882 [GRCh38]
Chr2:55882017 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.1248-3del deletion not provided [RCV002212612] Chr2:55660196 [GRCh38]
Chr2:55887331 [GRCh37]
Chr2:2p16.1
benign
NM_033109.5(PNPT1):c.591T>C (p.Asp197=) single nucleotide variant not provided [RCV002086335] Chr2:55679770 [GRCh38]
Chr2:55906905 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.223-19G>A single nucleotide variant not provided [RCV002170522] Chr2:55686463 [GRCh38]
Chr2:55913598 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.345C>T (p.Asn115=) single nucleotide variant not provided [RCV002080968] Chr2:55685001 [GRCh38]
Chr2:55912136 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.393T>C (p.Ser131=) single nucleotide variant not provided [RCV002071155] Chr2:55684953 [GRCh38]
Chr2:55912088 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.518-12T>C single nucleotide variant not provided [RCV002130711] Chr2:55680771 [GRCh38]
Chr2:55907906 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.960G>A (p.Thr320=) single nucleotide variant not provided [RCV002153313] Chr2:55671335 [GRCh38]
Chr2:55898470 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.1284+19C>T single nucleotide variant not provided [RCV002188886] Chr2:55660138 [GRCh38]
Chr2:55887273 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.696T>C (p.Ser232=) single nucleotide variant not provided [RCV002194238] Chr2:55673063 [GRCh38]
Chr2:55900198 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.2166C>T (p.Ala722=) single nucleotide variant not provided [RCV002213329] Chr2:55637582 [GRCh38]
Chr2:55864717 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.1603-8T>C single nucleotide variant not provided [RCV002152085] Chr2:55646494 [GRCh38]
Chr2:55873629 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.1188C>T (p.Thr396=) single nucleotide variant not provided [RCV002195945] Chr2:55662015 [GRCh38]
Chr2:55889150 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.2271A>C (p.Thr757=) single nucleotide variant not provided [RCV002077590] Chr2:55636318 [GRCh38]
Chr2:55863453 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.252G>A (p.Ala84=) single nucleotide variant not provided [RCV002172236] Chr2:55686415 [GRCh38]
Chr2:55913550 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.357A>G (p.Arg119=) single nucleotide variant not provided [RCV002172241] Chr2:55684989 [GRCh38]
Chr2:55912124 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.2253G>A (p.Val751=) single nucleotide variant not provided [RCV002115088] Chr2:55636336 [GRCh38]
Chr2:55863471 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.904T>A (p.Tyr302Asn) single nucleotide variant not provided [RCV002170636] Chr2:55672009 [GRCh38]
Chr2:55899144 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.1098A>G (p.Ser366=) single nucleotide variant not provided [RCV002206676] Chr2:55667069 [GRCh38]
Chr2:55894204 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.977-8T>C single nucleotide variant not provided [RCV002186341] Chr2:55667966 [GRCh38]
Chr2:55895101 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.976+5ATTTT[3] microsatellite not provided [RCV002134371] Chr2:55671290..55671299 [GRCh38]
Chr2:55898425..55898434 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.454-12C>T single nucleotide variant not provided [RCV002107046] Chr2:55680930 [GRCh38]
Chr2:55908065 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.534A>G (p.Ser178=) single nucleotide variant not provided [RCV002134440] Chr2:55680743 [GRCh38]
Chr2:55907878 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.531C>T (p.Leu177=) single nucleotide variant not provided [RCV002094296] Chr2:55680746 [GRCh38]
Chr2:55907881 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.977-8_977-7del deletion not provided [RCV002092299] Chr2:55667965..55667966 [GRCh38]
Chr2:55895100..55895101 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.680-18del deletion not provided [RCV002170997] Chr2:55673097 [GRCh38]
Chr2:55900232 [GRCh37]
Chr2:2p16.1
benign
NM_033109.5(PNPT1):c.1281C>T (p.Tyr427=) single nucleotide variant not provided [RCV002132890] Chr2:55660160 [GRCh38]
Chr2:55887295 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.1247+8_1247+9del deletion not provided [RCV002114972] Chr2:55661947..55661948 [GRCh38]
Chr2:55889082..55889083 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.36G>T (p.Arg12=) single nucleotide variant not provided [RCV002203116] Chr2:55693788 [GRCh38]
Chr2:55920923 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.1176+20C>G single nucleotide variant not provided [RCV002201412] Chr2:55666971 [GRCh38]
Chr2:55894106 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.1104G>A (p.Arg368=) single nucleotide variant not provided [RCV002201408] Chr2:55667063 [GRCh38]
Chr2:55894198 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.404-11T>C single nucleotide variant not provided [RCV002135604] Chr2:55683845 [GRCh38]
Chr2:55910980 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.132T>G (p.Ser44=) single nucleotide variant not provided [RCV002156161] Chr2:55693692 [GRCh38]
Chr2:55920827 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.1285-15T>G single nucleotide variant not provided [RCV002121919] Chr2:55656386 [GRCh38]
Chr2:55883521 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.2112G>A (p.Ala704=) single nucleotide variant not provided [RCV002137913] Chr2:55640663 [GRCh38]
Chr2:55867798 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.2149-5del deletion not provided [RCV002099156] Chr2:55637604 [GRCh38]
Chr2:55864739 [GRCh37]
Chr2:2p16.1
benign
NM_033109.5(PNPT1):c.2149-14A>T single nucleotide variant not provided [RCV002158899] Chr2:55637613 [GRCh38]
Chr2:55864748 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.2013+12T>A single nucleotide variant not provided [RCV002135358] Chr2:55643307 [GRCh38]
Chr2:55870442 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.161+14_161+15del deletion not provided [RCV002159846] Chr2:55693648..55693649 [GRCh38]
Chr2:55920783..55920784 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.1495+19A>G single nucleotide variant not provided [RCV002156032] Chr2:55654881 [GRCh38]
Chr2:55882016 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.147G>T (p.Val49=) single nucleotide variant not provided [RCV002154207] Chr2:55693677 [GRCh38]
Chr2:55920812 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.2070-20_2070-17del deletion not provided [RCV002156060] Chr2:55640722..55640725 [GRCh38]
Chr2:55867857..55867860 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.2197-18T>G single nucleotide variant not provided [RCV002161620] Chr2:55636410 [GRCh38]
Chr2:55863545 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.1351+7A>C single nucleotide variant not provided [RCV002163517] Chr2:55656298 [GRCh38]
Chr2:55883433 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.1285-4del deletion not provided [RCV002179493] Chr2:55656375 [GRCh38]
Chr2:55883510 [GRCh37]
Chr2:2p16.1
benign
NM_033109.5(PNPT1):c.834C>G (p.Thr278=) single nucleotide variant not provided [RCV002179637] Chr2:55672925 [GRCh38]
Chr2:55900060 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.2149-14_2149-13del deletion not provided [RCV002102433] Chr2:55637612..55637613 [GRCh38]
Chr2:55864747..55864748 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.919-16C>T single nucleotide variant not provided [RCV002163807] Chr2:55671392 [GRCh38]
Chr2:55898527 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.518-14del deletion not provided [RCV002118172] Chr2:55680773 [GRCh38]
Chr2:55907908 [GRCh37]
Chr2:2p16.1
benign
NM_033109.5(PNPT1):c.502C>T (p.Leu168=) single nucleotide variant not provided [RCV002198734] Chr2:55680870 [GRCh38]
Chr2:55908005 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.1305T>C (p.Asn435=) single nucleotide variant not provided [RCV002217611] Chr2:55656351 [GRCh38]
Chr2:55883486 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.1248-20A>G single nucleotide variant not provided [RCV002164493] Chr2:55660213 [GRCh38]
Chr2:55887348 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.518-16T>G single nucleotide variant not provided [RCV002142493] Chr2:55680775 [GRCh38]
Chr2:55907910 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.1739-17G>T single nucleotide variant not provided [RCV002161266] Chr2:55645449 [GRCh38]
Chr2:55872584 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.1285-4dup duplication not provided [RCV002119194] Chr2:55656374..55656375 [GRCh38]
Chr2:55883509..55883510 [GRCh37]
Chr2:2p16.1
benign
NM_033109.5(PNPT1):c.1352-14C>G single nucleotide variant not provided [RCV002119632] Chr2:55656234 [GRCh38]
Chr2:55883369 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.1738+11G>A single nucleotide variant not provided [RCV002179207] Chr2:55646248 [GRCh38]
Chr2:55873383 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.1713G>A (p.Val571=) single nucleotide variant not provided [RCV002218763] Chr2:55646284 [GRCh38]
Chr2:55873419 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.298-14dup duplication not provided [RCV002161451] Chr2:55685061..55685062 [GRCh38]
Chr2:55912196..55912197 [GRCh37]
Chr2:2p16.1
benign
NM_033109.5(PNPT1):c.840G>T (p.Ser280=) single nucleotide variant not provided [RCV002142924] Chr2:55672919 [GRCh38]
Chr2:55900054 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.1176+12A>G single nucleotide variant not provided [RCV002143040] Chr2:55666979 [GRCh38]
Chr2:55894114 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.1177-18A>C single nucleotide variant not provided [RCV002203819] Chr2:55662044 [GRCh38]
Chr2:55889179 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.1247+9T>C single nucleotide variant not provided [RCV002183535] Chr2:55661947 [GRCh38]
Chr2:55889082 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.1932A>G (p.Glu644=) single nucleotide variant not provided [RCV002217805] Chr2:55643400 [GRCh38]
Chr2:55870535 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.216A>G (p.Val72=) single nucleotide variant not provided [RCV002141642] Chr2:55687651 [GRCh38]
Chr2:55914786 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.189G>A (p.Leu63=) single nucleotide variant not provided [RCV002201339] Chr2:55687678 [GRCh38]
Chr2:55914813 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.1587G>A (p.Leu529=) single nucleotide variant not provided [RCV002097778] Chr2:55647362 [GRCh38]
Chr2:55874497 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.948A>C (p.Ile316=) single nucleotide variant not provided [RCV002175304] Chr2:55671347 [GRCh38]
Chr2:55898482 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.1352-19_1352-18dup duplication not provided [RCV002203263] Chr2:55656237..55656238 [GRCh38]
Chr2:55883372..55883373 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.1738+16T>A single nucleotide variant not provided [RCV002159489] Chr2:55646243 [GRCh38]
Chr2:55873378 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.2148+20T>C single nucleotide variant not provided [RCV002139301] Chr2:55640607 [GRCh38]
Chr2:55867742 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.404-11del deletion not provided [RCV002123502] Chr2:55683845 [GRCh38]
Chr2:55910980 [GRCh37]
Chr2:2p16.1
benign
NM_033109.5(PNPT1):c.680-19_680-18dup duplication not provided [RCV002098446] Chr2:55673096..55673097 [GRCh38]
Chr2:55900231..55900232 [GRCh37]
Chr2:2p16.1
benign
NM_033109.5(PNPT1):c.2197-17_2197-16del deletion not provided [RCV002156746] Chr2:55636408..55636409 [GRCh38]
Chr2:55863543..55863544 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.1562A>C (p.Lys521Thr) single nucleotide variant not provided [RCV002123546] Chr2:55647387 [GRCh38]
Chr2:55874522 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.565+16A>G single nucleotide variant not provided [RCV002100647] Chr2:55680696 [GRCh38]
Chr2:55907831 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.1495+13T>C single nucleotide variant not provided [RCV002178235] Chr2:55654887 [GRCh38]
Chr2:55882022 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.1906+10_1906+11insAT insertion not provided [RCV002084399] Chr2:55644626..55644627 [GRCh38]
Chr2:55871761..55871762 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.977-7del deletion not provided [RCV002158931] Chr2:55667965 [GRCh38]
Chr2:55895100 [GRCh37]
Chr2:2p16.1
benign
NM_033109.5(PNPT1):c.1429C>T (p.Leu477=) single nucleotide variant not provided [RCV002136839] Chr2:55656143 [GRCh38]
Chr2:55883278 [GRCh37]
Chr2:2p16.1
benign
NM_033109.5(PNPT1):c.1823-18G>T single nucleotide variant not provided [RCV002182345] Chr2:55644738 [GRCh38]
Chr2:55871873 [GRCh37]
Chr2:2p16.1
likely benign
NM_033109.5(PNPT1):c.716A>C (p.Gln239Pro) single nucleotide variant not provided [RCV002278973] Chr2:55673043 [GRCh38]
Chr2:55900178 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.574C>T (p.Arg192Ter) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 70 [RCV002283958] Chr2:55679787 [GRCh38]
Chr2:55906922 [GRCh37]
Chr2:2p16.1
pathogenic
NM_033109.5(PNPT1):c.134G>C (p.Arg45Pro) single nucleotide variant not provided [RCV002276317] Chr2:55693690 [GRCh38]
Chr2:55920825 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_033109.5(PNPT1):c.1579_1580insGAT (p.Tyr527Ter) insertion Combined oxidative phosphorylation defect type 13 [RCV002274863] Chr2:55647369..55647370 [GRCh38]
Chr2:55874504..55874505 [GRCh37]
Chr2:2p16.1
pathogenic
NM_033109.5(PNPT1):c.2234T>C (p.Met745Thr) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 70 [RCV002265068]|not provided [RCV002275368] Chr2:55636355 [GRCh38]
Chr2:55863490 [GRCh37]
Chr2:2p16.1
pathogenic|uncertain significance
GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1 copy number loss See cases [RCV002287563] Chr2:11504318..111365996 [GRCh37]
Chr2:2p25.1-q13
pathogenic
NM_033109.5(PNPT1):c.2069+3A>G single nucleotide variant Spinocerebellar ataxia type 25 [RCV002265066] Chr2:55643155 [GRCh38]
Chr2:55870290 [GRCh37]
Chr2:2p16.1
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:23166 AgrOrtholog
COSMIC PNPT1 COSMIC
Ensembl Genes ENSG00000138035 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000260604.4 UniProtKB/TrEMBL
  ENSP00000393953.1 UniProtKB/Swiss-Prot
  ENSP00000400646 ENTREZGENE
  ENSP00000400646.2 UniProtKB/Swiss-Prot
  ENSP00000411057.1 UniProtKB/TrEMBL
  ENSP00000411994.1 UniProtKB/TrEMBL
  ENSP00000486227.1 UniProtKB/TrEMBL
Ensembl Transcript ENST00000260604.8 UniProtKB/TrEMBL
  ENST00000415374.5 UniProtKB/Swiss-Prot
  ENST00000415489.1 UniProtKB/TrEMBL
  ENST00000429805.1 UniProtKB/TrEMBL
  ENST00000447944 ENTREZGENE
  ENST00000447944.7 UniProtKB/Swiss-Prot
  ENST00000625249.1 UniProtKB/TrEMBL
Gene3D-CATH 2.40.50.140 UniProtKB/Swiss-Prot
  3.30.1370.10 UniProtKB/Swiss-Prot
  3.30.230.70 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000138035 GTEx
HGNC ID HGNC:23166 ENTREZGENE
Human Proteome Map PNPT1 Human Proteome Map
InterPro ExoRNase_PH_dom1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ExoRNase_PH_dom2 UniProtKB/Swiss-Prot
  ExoRNase_PH_dom2_sf UniProtKB/Swiss-Prot
  KH_dom UniProtKB/Swiss-Prot
  KH_dom_type_1 UniProtKB/Swiss-Prot
  KH_dom_type_1_sf UniProtKB/Swiss-Prot
  NA-bd_OB-fold UniProtKB/Swiss-Prot
  PNPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PNPase/RNase_PH_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PNPase_PH_RNA-bd_bac/org-type UniProtKB/Swiss-Prot
  PNPase_PH_RNA-bd_sf UniProtKB/Swiss-Prot
  Ribosomal_S5_D2-typ_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  S1_dom UniProtKB/Swiss-Prot
  S1_domain UniProtKB/Swiss-Prot
KEGG Report hsa:87178 UniProtKB/Swiss-Prot
NCBI Gene 87178 ENTREZGENE
OMIM 608703 OMIM
  610316 OMIM
  614932 OMIM
  614934 OMIM
PANTHER PTHR11252 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam KH_1 UniProtKB/Swiss-Prot
  PNPase UniProtKB/Swiss-Prot
  RNase_PH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RNase_PH_C UniProtKB/Swiss-Prot
PharmGKB PA134915354 PharmGKB
PIRSF PNPase UniProtKB/Swiss-Prot
PROSITE KH_TYPE_1 UniProtKB/Swiss-Prot
  PS50126 UniProtKB/Swiss-Prot
SMART SM00316 UniProtKB/Swiss-Prot
  SM00322 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF46915 UniProtKB/Swiss-Prot
  SSF50249 UniProtKB/Swiss-Prot
  SSF54211 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF54791 UniProtKB/Swiss-Prot
  SSF55666 UniProtKB/Swiss-Prot
TIGRFAMs polynuc_phos UniProtKB/Swiss-Prot
UniProt F8WBI3_HUMAN UniProtKB/TrEMBL
  H7BXF6_HUMAN UniProtKB/TrEMBL
  H7C3C5_HUMAN UniProtKB/TrEMBL
  PNPT1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q9BVX0 ENTREZGENE
UniProt Secondary Q53SU0 UniProtKB/Swiss-Prot
  Q68CN1 UniProtKB/Swiss-Prot
  Q7Z7D1 UniProtKB/Swiss-Prot
  Q8IWX1 UniProtKB/Swiss-Prot
  Q96T05 UniProtKB/Swiss-Prot
  Q9BRU3 UniProtKB/Swiss-Prot
  Q9BVX0 UniProtKB/Swiss-Prot