G6PC3 (glucose-6-phosphatase catalytic subunit 3) - Rat Genome Database

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Gene: G6PC3 (glucose-6-phosphatase catalytic subunit 3) Homo sapiens
Analyze
Symbol: G6PC3
Name: glucose-6-phosphatase catalytic subunit 3
RGD ID: 735418
HGNC Page HGNC:24861
Description: Enables glucose-6-phosphatase activity. Predicted to be involved in gluconeogenesis and glucose 6-phosphate metabolic process. Predicted to act upstream of or within glucose-6-phosphate transport. Located in endoplasmic reticulum. Implicated in severe congenital neutropenia 4.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: G-6-Pase 3; G6Pase 3; G6Pase-beta; glucose 6 phosphatase catalytic subunit 3; glucose 6 phosphatase, catalytic, 3; glucose-6-phosphatase 3; SCN4; ubiquitous glucose-6-phosphatase catalytic subunit-related protein; ubiquitously expressed G6Pase catalytic subunit-related protein; UGRP
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381744,070,673 - 44,076,344 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1744,070,620 - 44,082,151 (+)EnsemblGRCh38hg38GRCh38
GRCh371742,148,041 - 42,153,712 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361739,503,644 - 39,509,238 (+)NCBINCBI36Build 36hg18NCBI36
Build 341739,503,643 - 39,509,238NCBI
Celera1738,856,193 - 38,861,806 (+)NCBICelera
Cytogenetic Map17q21.31NCBI
HuRef1737,912,029 - 37,917,640 (+)NCBIHuRef
CHM1_11742,383,469 - 42,389,082 (+)NCBICHM1_1
T2T-CHM13v2.01744,923,182 - 44,928,851 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
endoplasmic reticulum  (IDA,IEA,ISO)
endoplasmic reticulum membrane  (IEA,TAS)
membrane  (HDA,IBA,IEA)

Molecular Function
glucose-6-phosphatase activity  (EXP,IBA,IEA,IMP,ISO,TAS)
hydrolase activity  (IEA)

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

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Identification and characterization of a human cDNA and gene encoding a ubiquitously expressed glucose-6-phosphatase catalytic subunit-related protein. Martin CC, etal., J Mol Endocrinol 2002 Oct;29(2):205-22.
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
6. Mechanism of fat-induced hepatic gluconeogenesis: effect of metformin. Song S, etal., Am J Physiol Endocrinol Metab. 2001 Aug;281(2):E275-82.
7. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11.
8. Induction and suppression of the key enzymes of glycolysis and gluconeogenesis in isolated perfused rat liver in response to glucose, fructose and lactate. Wimhurst JM and Manchester KL, Biochem J. 1973 May;134(1):143-56.
9. Transcriptomic characteristics of bronchoalveolar lavage fluid and peripheral blood mononuclear cells in COVID-19 patients. Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.
10. Gluconeogenesis in developing rat kidney cortex. Zorzoli A, etal., Biochem J. 1969 Jan;111(2):181-5.
Additional References at PubMed
PMID:12965222   PMID:14718531   PMID:16341674   PMID:18337100   PMID:19118303   PMID:19946888   PMID:20220065   PMID:20498302   PMID:20616219   PMID:20717171   PMID:20799326   PMID:21048031  
PMID:21206270   PMID:21264919   PMID:21385794   PMID:21677667   PMID:21873635   PMID:21891829   PMID:22050868   PMID:22469094   PMID:23180359   PMID:23298686   PMID:23454784   PMID:23758768  
PMID:24105461   PMID:24244560   PMID:24322501   PMID:24796372   PMID:25284454   PMID:25391451   PMID:25491320   PMID:25492228   PMID:25879134   PMID:26479985   PMID:27571123   PMID:27793029  
PMID:28298427   PMID:28713988   PMID:30463901   PMID:30626647   PMID:32051561   PMID:32562405   PMID:33669862   PMID:33961781   PMID:34137364   PMID:34187934   PMID:34205470   PMID:34305938  
PMID:34597346   PMID:34964150   PMID:35277194   PMID:35944360   PMID:36215168   PMID:36546889   PMID:37357000   PMID:38070861  


Genomics

Comparative Map Data
G6PC3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381744,070,673 - 44,076,344 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1744,070,620 - 44,082,151 (+)EnsemblGRCh38hg38GRCh38
GRCh371742,148,041 - 42,153,712 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361739,503,644 - 39,509,238 (+)NCBINCBI36Build 36hg18NCBI36
Build 341739,503,643 - 39,509,238NCBI
Celera1738,856,193 - 38,861,806 (+)NCBICelera
Cytogenetic Map17q21.31NCBI
HuRef1737,912,029 - 37,917,640 (+)NCBIHuRef
CHM1_11742,383,469 - 42,389,082 (+)NCBICHM1_1
T2T-CHM13v2.01744,923,182 - 44,928,851 (+)NCBIT2T-CHM13v2.0
G6pc3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3911102,080,525 - 102,084,907 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl11102,080,446 - 102,084,907 (+)EnsemblGRCm39 Ensembl
GRCm3811102,189,699 - 102,194,081 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl11102,189,620 - 102,194,081 (+)EnsemblGRCm38mm10GRCm38
MGSCv3711102,051,013 - 102,055,395 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3611102,005,789 - 102,010,171 (+)NCBIMGSCv36mm8
Celera11113,895,582 - 113,899,957 (+)NCBICelera
Cytogenetic Map11DNCBI
cM Map1165.79NCBI
G6pc3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81087,647,149 - 87,651,385 (+)NCBIGRCr8
mRatBN7.21087,146,987 - 87,151,223 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1087,146,901 - 87,151,221 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1092,176,687 - 92,180,943 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01091,648,593 - 91,652,849 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01087,041,911 - 87,046,167 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01090,134,193 - 90,138,425 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1090,134,193 - 90,138,425 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01089,921,496 - 89,925,728 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41091,260,522 - 91,264,754 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11091,274,891 - 91,279,124 (+)NCBI
Celera1085,862,911 - 85,867,143 (+)NCBICelera
Cytogenetic Map10q32.1NCBI
G6pc3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545117,219,551 - 17,221,689 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495545117,219,763 - 17,221,889 (+)NCBIChiLan1.0ChiLan1.0
G6PC3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21920,830,878 - 20,836,890 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11722,795,213 - 22,801,228 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01713,320,104 - 13,326,112 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11713,481,172 - 13,493,022 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1713,481,473 - 13,492,789 (-)Ensemblpanpan1.1panPan2
G6PC3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1919,299,619 - 19,304,038 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl919,260,240 - 19,303,995 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha918,689,731 - 18,694,175 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0919,994,942 - 19,999,396 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl919,994,944 - 19,999,447 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1918,848,045 - 18,852,488 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0919,031,275 - 19,035,713 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0919,176,085 - 19,180,530 (-)NCBIUU_Cfam_GSD_1.0
G6pc3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560218,633,262 - 18,638,162 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936541556,307 - 561,333 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936541556,413 - 561,336 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
G6PC3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1219,121,544 - 19,126,295 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11219,121,540 - 19,126,291 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21219,357,245 - 19,361,987 (+)NCBISscrofa10.2Sscrofa10.2susScr3
G6PC3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11662,315,324 - 62,321,522 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1662,315,624 - 62,321,512 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607733,088,943 - 33,095,134 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
G6pc3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624795838,681 - 842,883 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624795838,786 - 843,465 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in G6PC3
362 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
G6PC3, 1-BP DUP, 935T duplication Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV000001096] Chr17:17q21 pathogenic
GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3 copy number gain See cases [RCV000050957] Chr17:36449220..68170214 [GRCh38]
Chr17:48563237..65936105 [GRCh37]
Chr17:45918236..63677950 [NCBI36]
Chr17:17q21.33-24.2
pathogenic
NM_138387.4(G6PC3):c.778G>C (p.Gly260Arg) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV000023859]|not provided [RCV000986189] Chr17:44075780 [GRCh38]
Chr17:42153148 [GRCh37]
Chr17:17q21.31
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_138387.4(G6PC3):c.758G>A (p.Arg253His) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV000001092]|not provided [RCV003311633] Chr17:44075760 [GRCh38]
Chr17:42153128 [GRCh37]
Chr17:17q21.31
pathogenic
NM_138387.4(G6PC3):c.554T>C (p.Leu185Pro) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV000001093] Chr17:44075328 [GRCh38]
Chr17:42152696 [GRCh37]
Chr17:17q21.31
pathogenic
NM_138387.4(G6PC3):c.141C>G (p.Tyr47Ter) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV000001094] Chr17:44071106 [GRCh38]
Chr17:42148474 [GRCh37]
Chr17:17q21.31
pathogenic
NM_138387.4(G6PC3):c.784G>C (p.Gly262Arg) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV000001095] Chr17:44075786 [GRCh38]
Chr17:42153154 [GRCh37]
Chr17:17q21.31
pathogenic
NM_138387.4(G6PC3):c.346A>G (p.Met116Val) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV001815156] Chr17:44074700 [GRCh38]
Chr17:42152068 [GRCh37]
Chr17:17q21.31
pathogenic
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] Chr17:36449220..83086677 [GRCh38]
Chr17:58617905..81044553 [GRCh37]
Chr17:55972687..78637842 [NCBI36]
Chr17:17q23.2-25.3
pathogenic
GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3 copy number gain See cases [RCV000052479] Chr17:39199873..45629579 [GRCh38]
Chr17:37356126..43706945 [GRCh37]
Chr17:34609652..41062728 [NCBI36]
Chr17:17q12-21.31
pathogenic
GRCh38/hg38 17q21.31(chr17:43570878-44762377)x1 copy number loss See cases [RCV000053429] Chr17:43570878..44762377 [GRCh38]
Chr17:41648246..42839745 [GRCh37]
Chr17:39003772..40195271 [NCBI36]
Chr17:17q21.31
pathogenic
NM_138387.3(G6PC3):c.563C>T (p.Pro188Leu) single nucleotide variant Malignant melanoma [RCV000063227] Chr17:44075337 [GRCh38]
Chr17:42152705 [GRCh37]
Chr17:39508231 [NCBI36]
Chr17:17q21.31
not provided
NM_138387.4(G6PC3):c.169G>A (p.Val57Met) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV001312925]|not specified [RCV001820007] Chr17:44071134 [GRCh38]
Chr17:42148502 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.851T>G (p.Ile284Arg) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV001349088] Chr17:44075853 [GRCh38]
Chr17:42153221 [GRCh37]
Chr17:17q21.31
uncertain significance
GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3 copy number gain See cases [RCV000137437] Chr17:36449220..75053130 [GRCh38]
Chr17:57595736..73049225 [GRCh37]
Chr17:54950518..70560820 [NCBI36]
Chr17:17q23.1-25.1
pathogenic
GRCh38/hg38 17q21.31(chr17:43934167-44854025)x1 copy number loss See cases [RCV000134949] Chr17:43934167..44854025 [GRCh38]
Chr17:42011535..42931393 [GRCh37]
Chr17:39367061..40286919 [NCBI36]
Chr17:17q21.31
pathogenic
NM_138387.4(G6PC3):c.*2T>C single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV000291415]|G6PC3-related disorder [RCV003891759]|not provided [RCV002056988]|not specified [RCV000192773] Chr17:44076045 [GRCh38]
Chr17:42153413 [GRCh37]
Chr17:17q21.31
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138387.4(G6PC3):c.130C>T (p.Pro44Ser) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV000192087]|not provided [RCV001311130] Chr17:44071095 [GRCh38]
Chr17:42148463 [GRCh37]
Chr17:17q21.31
pathogenic|likely pathogenic
NM_138387.4(G6PC3):c.210del (p.Phe71fs) deletion Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV000192088]|not provided [RCV003151753] Chr17:44071175 [GRCh38]
Chr17:42148543 [GRCh37]
Chr17:17q21.31
pathogenic
NM_138387.4(G6PC3):c.829C>T (p.Gln277Ter) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV000192089] Chr17:44075831 [GRCh38]
Chr17:42153199 [GRCh37]
Chr17:17q21.31
pathogenic|not provided
NM_138387.4(G6PC3):c.935dup (p.Asn313fs) duplication Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV000192090] Chr17:44075933..44075934 [GRCh38]
Chr17:42153301..42153302 [GRCh37]
Chr17:17q21.31
pathogenic
NM_138387.4(G6PC3):c.566G>A (p.Arg189Gln) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV000686679]|not specified [RCV000246035] Chr17:44075340 [GRCh38]
Chr17:42152708 [GRCh37]
Chr17:17q21.31
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138387.4(G6PC3):c.381G>A (p.Thr127=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV000261560]|not provided [RCV001689929]|not specified [RCV000253820] Chr17:44074735 [GRCh38]
Chr17:42152103 [GRCh37]
Chr17:17q21.31
benign
NM_138387.4(G6PC3):c.219-50C>G single nucleotide variant not provided [RCV004703559]|not specified [RCV000249459] Chr17:44074110 [GRCh38]
Chr17:42151478 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.926T>G (p.Phe309Cys) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV001305417]|not provided [RCV000256058]|not specified [RCV004525911] Chr17:44075928 [GRCh38]
Chr17:42153296 [GRCh37]
Chr17:17q21.31
likely pathogenic|uncertain significance
NM_138387.4(G6PC3):c.727G>A (p.Val243Met) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV000793327]|Inborn genetic diseases [RCV002522978] Chr17:44075729 [GRCh38]
Chr17:42153097 [GRCh37]
Chr17:17q21.31
likely benign|uncertain significance
NM_138387.4(G6PC3):c.-194C>T single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV000343226]|not provided [RCV004705351] Chr17:44070772 [GRCh38]
Chr17:42148140 [GRCh37]
Chr17:17q21.31
likely benign|uncertain significance
NM_138387.4(G6PC3):c.647C>T (p.Thr216Ile) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV000527271]|not provided [RCV001573596]|not specified [RCV001701953] Chr17:44075421 [GRCh38]
Chr17:42152789 [GRCh37]
Chr17:17q21.31
benign|likely benign
NM_138387.4(G6PC3):c.-129C>T single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV000312411]|not provided [RCV001653580] Chr17:44070837 [GRCh38]
Chr17:42148205 [GRCh37]
Chr17:17q21.31
benign
NM_138387.4(G6PC3):c.201C>T (p.Leu67=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV000768226] Chr17:44071166 [GRCh38]
Chr17:42148534 [GRCh37]
Chr17:17q21.31
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138387.4(G6PC3):c.219-13T>C single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV000315741] Chr17:44074147 [GRCh38]
Chr17:42151515 [GRCh37]
Chr17:17q21.31
conflicting interpretations of pathogenicity|uncertain significance
NM_138387.4(G6PC3):c.-162G>A single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV000365212] Chr17:44070804 [GRCh38]
Chr17:42148172 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.187A>G (p.Ile63Val) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV000369466] Chr17:44071152 [GRCh38]
Chr17:42148520 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.416+5A>G single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV000547997]|not provided [RCV001573131]|not specified [RCV001699368] Chr17:44074775 [GRCh38]
Chr17:42152143 [GRCh37]
Chr17:17q21.31
benign|likely benign
NM_138387.4(G6PC3):c.407G>A (p.Arg136Gln) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV000685239] Chr17:44074761 [GRCh38]
Chr17:42152129 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.-152T>C single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV000402452] Chr17:44070814 [GRCh38]
Chr17:42148182 [GRCh37]
Chr17:17q21.31
benign|likely benign
NM_138387.4(G6PC3):c.668A>C (p.Asp223Ala) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV000380058] Chr17:44075442 [GRCh38]
Chr17:42152810 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.*234C>G single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV000408237] Chr17:44076277 [GRCh38]
Chr17:42153645 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.815A>G (p.Gln272Arg) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV000645980]|not provided [RCV004709653] Chr17:44075817 [GRCh38]
Chr17:42153185 [GRCh37]
Chr17:17q21.31
benign|likely benign
NM_138387.4(G6PC3):c.*151G>C single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV000348935]|not provided [RCV001675819] Chr17:44076194 [GRCh38]
Chr17:42153562 [GRCh37]
Chr17:17q21.31
benign
NM_138387.4(G6PC3):c.406C>T (p.Arg136Trp) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV000792878] Chr17:44074760 [GRCh38]
Chr17:42152128 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.*1CTT[1] microsatellite Severe congenital neutropenia [RCV000383356] Chr17:44076044..44076046 [GRCh38]
Chr17:42153412..42153414 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.-191T>G single nucleotide variant Severe congenital neutropenia [RCV000406856] Chr17:44070775 [GRCh38]
Chr17:42148143 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.-231A>G single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV000285732] Chr17:44070735 [GRCh38]
Chr17:42148103 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.-164G>A single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV000308263] Chr17:44070802 [GRCh38]
Chr17:42148170 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.377T>C (p.Met126Thr) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV000354152] Chr17:44074731 [GRCh38]
Chr17:42152099 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.677+7C>T single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV000768227] Chr17:44075458 [GRCh38]
Chr17:42152826 [GRCh37]
Chr17:17q21.31
uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
NM_138387.4(G6PC3):c.419G>A (p.Arg140His) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV000645979] Chr17:44074971 [GRCh38]
Chr17:42152339 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.879G>A (p.Leu293=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV000645981]|G6PC3-related disorder [RCV003953160] Chr17:44075881 [GRCh38]
Chr17:42153249 [GRCh37]
Chr17:17q21.31
likely benign
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
NM_138387.4(G6PC3):c.821G>A (p.Arg274His) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV000692791] Chr17:44075823 [GRCh38]
Chr17:42153191 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.580C>T (p.Arg194Trp) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV000690313] Chr17:44075354 [GRCh38]
Chr17:42152722 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.800C>G (p.Ser267Cys) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV000690993]|not provided [RCV001507887] Chr17:44075802 [GRCh38]
Chr17:42153170 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.50A>C (p.Asn17Thr) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV000699257]|not provided [RCV002282335] Chr17:44071015 [GRCh38]
Chr17:42148383 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.709C>T (p.Arg237Trp) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV000699296] Chr17:44075711 [GRCh38]
Chr17:42153079 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.982G>A (p.Val328Met) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV000706379] Chr17:44075984 [GRCh38]
Chr17:42153352 [GRCh37]
Chr17:17q21.31
uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
NM_138387.4(G6PC3):c.732T>C (p.Asp244=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV001398927] Chr17:44075734 [GRCh38]
Chr17:42153102 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.59C>T (p.Ala20Val) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV000973789]|G6PC3-related disorder [RCV003918535] Chr17:44071024 [GRCh38]
Chr17:42148392 [GRCh37]
Chr17:17q21.31
benign|likely benign
NM_138387.4(G6PC3):c.1035T>A (p.Ser345=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV000929612] Chr17:44076037 [GRCh38]
Chr17:42153405 [GRCh37]
Chr17:17q21.31
benign
NM_138387.4(G6PC3):c.573T>C (p.Pro191=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV001468507] Chr17:44075347 [GRCh38]
Chr17:42152715 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.906C>T (p.His302=) single nucleotide variant not provided [RCV000923887] Chr17:44075908 [GRCh38]
Chr17:42153276 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.189C>T (p.Ile63=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV000904813]|G6PC3-related disorder [RCV003910810]|not specified [RCV001818777] Chr17:44071154 [GRCh38]
Chr17:42148522 [GRCh37]
Chr17:17q21.31
benign|likely benign
NC_000017.11:g.(?_44027807)_(44352876_?)dup duplication GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001032594] Chr17:42105175..42430244 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.31A>G (p.Ile11Val) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV000808369] Chr17:44070996 [GRCh38]
Chr17:42148364 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.938A>G (p.Asn313Ser) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV000792868]|Inborn genetic diseases [RCV004619411] Chr17:44075940 [GRCh38]
Chr17:42153308 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.699G>A (p.Lys233=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV000922480] Chr17:44075701 [GRCh38]
Chr17:42153069 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.636C>T (p.Leu212=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV001445808] Chr17:44075410 [GRCh38]
Chr17:42152778 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.468G>A (p.Ala156=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV000914801]|not provided [RCV002307642] Chr17:44075020 [GRCh38]
Chr17:42152388 [GRCh37]
Chr17:17q21.31
likely benign|uncertain significance
NM_138387.4(G6PC3):c.187A>C (p.Ile63Leu) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV000914879]|G6PC3-related disorder [RCV003923211]|not specified [RCV001818857] Chr17:44071152 [GRCh38]
Chr17:42148520 [GRCh37]
Chr17:17q21.31
likely benign|uncertain significance
NM_138387.4(G6PC3):c.687C>T (p.Ser229=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV000909521] Chr17:44075689 [GRCh38]
Chr17:42153057 [GRCh37]
Chr17:17q21.31
likely benign|conflicting interpretations of pathogenicity
NM_138387.4(G6PC3):c.726C>T (p.His242=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV001482343] Chr17:44075728 [GRCh38]
Chr17:42153096 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.144C>G (p.Tyr48Ter) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV000779221] Chr17:44071109 [GRCh38]
Chr17:42148477 [GRCh37]
Chr17:17q21.31
likely pathogenic
NM_138387.4(G6PC3):c.376A>G (p.Met126Val) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV000820805] Chr17:44074730 [GRCh38]
Chr17:42152098 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.674C>G (p.Ser225Cys) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV000809971]|not provided [RCV003424353] Chr17:44075448 [GRCh38]
Chr17:42152816 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.1006A>C (p.Ser336Arg) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV000812640] Chr17:44076008 [GRCh38]
Chr17:42153376 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.479C>T (p.Ser160Leu) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV000807339] Chr17:44075031 [GRCh38]
Chr17:42152399 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.565C>T (p.Arg189Ter) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV000808701]|not provided [RCV001268436] Chr17:44075339 [GRCh38]
Chr17:42152707 [GRCh37]
Chr17:17q21.31
pathogenic
NM_138387.4(G6PC3):c.574A>G (p.Met192Val) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV000802294] Chr17:44075348 [GRCh38]
Chr17:42152716 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.399G>A (p.Val133=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV001414030] Chr17:44074753 [GRCh38]
Chr17:42152121 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.883G>T (p.Gly295Cys) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV000812491] Chr17:44075885 [GRCh38]
Chr17:42153253 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.10A>G (p.Thr4Ala) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV000823714] Chr17:44070975 [GRCh38]
Chr17:42148343 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.922C>T (p.Leu308Phe) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV001226335] Chr17:44075924 [GRCh38]
Chr17:42153292 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.823C>T (p.Arg275Trp) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV001226350] Chr17:44075825 [GRCh38]
Chr17:42153193 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.431T>A (p.Val144Glu) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV001231632] Chr17:44074983 [GRCh38]
Chr17:42152351 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.413G>A (p.Arg138His) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV001241536] Chr17:44074767 [GRCh38]
Chr17:42152135 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.417-14T>C single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV001122682] Chr17:44074955 [GRCh38]
Chr17:42152323 [GRCh37]
Chr17:17q21.31
conflicting interpretations of pathogenicity|uncertain significance
NM_138387.4(G6PC3):c.417-9T>C single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003852698] Chr17:44074960 [GRCh38]
Chr17:42152328 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.894C>T (p.Asp298=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV002544617] Chr17:44075896 [GRCh38]
Chr17:42153264 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.199_218+1del deletion Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV001815446]|not provided [RCV003480880] Chr17:44071159..44071179 [GRCh38]
Chr17:42148527..42148547 [GRCh37]
Chr17:17q21.31
pathogenic
NM_138387.4(G6PC3):c.219-4C>A single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV001427052] Chr17:44074156 [GRCh38]
Chr17:42151524 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.468G>T (p.Ala156=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV001468508] Chr17:44075020 [GRCh38]
Chr17:42152388 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.207dup (p.Ile70fs) duplication Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV001385765]|not provided [RCV003480879] Chr17:44071171..44071172 [GRCh38]
Chr17:42148539..42148540 [GRCh37]
Chr17:17q21.31
pathogenic
NM_138387.4(G6PC3):c.1017A>G (p.Glu339=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV001405061] Chr17:44076019 [GRCh38]
Chr17:42153387 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.264T>G (p.Gly88=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV000904096] Chr17:44074205 [GRCh38]
Chr17:42151573 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.-155T>A single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV001126354] Chr17:44070811 [GRCh38]
Chr17:42148179 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.735C>A (p.Ser245Arg) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV001207940] Chr17:44075737 [GRCh38]
Chr17:42153105 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.374T>A (p.Ile125Lys) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV001227282] Chr17:44074728 [GRCh38]
Chr17:42152096 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.*97G>C single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV001123789] Chr17:44076140 [GRCh38]
Chr17:42153508 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.757C>T (p.Arg253Cys) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV001234589]|not provided [RCV001311132] Chr17:44075759 [GRCh38]
Chr17:42153127 [GRCh37]
Chr17:17q21.31
likely pathogenic|uncertain significance
NM_138387.4(G6PC3):c.940T>C (p.Phe314Leu) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV001221084] Chr17:44075942 [GRCh38]
Chr17:42153310 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.219-211dup duplication not provided [RCV001620950] Chr17:44073939..44073940 [GRCh38]
Chr17:42151307..42151308 [GRCh37]
Chr17:17q21.31
benign
NC_000017.11:g.44070489dup duplication not provided [RCV001621598] Chr17:44070470..44070471 [GRCh38]
Chr17:42147838..42147839 [GRCh37]
Chr17:17q21.31
benign
NM_138387.4(G6PC3):c.535+56T>A single nucleotide variant not provided [RCV001654319] Chr17:44075143 [GRCh38]
Chr17:42152511 [GRCh37]
Chr17:17q21.31
benign
NM_138387.4(G6PC3):c.-48G>A single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV001128406] Chr17:44070918 [GRCh38]
Chr17:42148286 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.*67G>A single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV001123788] Chr17:44076110 [GRCh38]
Chr17:42153478 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.911dup (p.Gln305fs) duplication Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003325986]|Inherited Immunodeficiency Diseases [RCV001027572] Chr17:44075907..44075908 [GRCh38]
Chr17:42153275..42153276 [GRCh37]
Chr17:17q21.31
pathogenic
NM_138387.4(G6PC3):c.-149G>A single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV001128405] Chr17:44070817 [GRCh38]
Chr17:42148185 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.417-9T>G single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV001122683] Chr17:44074960 [GRCh38]
Chr17:42152328 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.-178C>A single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV001126353] Chr17:44070788 [GRCh38]
Chr17:42148156 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.1012C>T (p.Gln338Ter) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV001205990]|not provided [RCV001838430] Chr17:44076014 [GRCh38]
Chr17:42153382 [GRCh37]
Chr17:17q21.31
pathogenic|uncertain significance
NM_138387.4(G6PC3):c.464del (p.Leu155fs) deletion Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV001203763] Chr17:44075013 [GRCh38]
Chr17:42152381 [GRCh37]
Chr17:17q21.31
pathogenic
NM_138387.4(G6PC3):c.773C>T (p.Ala258Val) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV001216198] Chr17:44075775 [GRCh38]
Chr17:42153143 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.904C>T (p.His302Tyr) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV001220019] Chr17:44075906 [GRCh38]
Chr17:42153274 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.887C>T (p.Pro296Leu) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV001216688]|Inborn genetic diseases [RCV002562416] Chr17:44075889 [GRCh38]
Chr17:42153257 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.416+3A>G single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV001054024] Chr17:44074773 [GRCh38]
Chr17:42152141 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.175T>C (p.Trp59Arg) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV001058765]|not specified [RCV004689972] Chr17:44071140 [GRCh38]
Chr17:42148508 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.620T>C (p.Met207Thr) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV001205308] Chr17:44075394 [GRCh38]
Chr17:42152762 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.995T>G (p.Val332Gly) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV001215339] Chr17:44075997 [GRCh38]
Chr17:42153365 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.824G>A (p.Arg275Gln) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV001054474] Chr17:44075826 [GRCh38]
Chr17:42153194 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.484A>G (p.Ile162Val) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV001051240]|Inborn genetic diseases [RCV002553735]|not provided [RCV002067720] Chr17:44075036 [GRCh38]
Chr17:42152404 [GRCh37]
Chr17:17q21.31
likely benign|uncertain significance
NM_138387.4(G6PC3):c.908C>A (p.Pro303His) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV001055713] Chr17:44075910 [GRCh38]
Chr17:42153278 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.854C>A (p.Ala285Asp) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV001232596] Chr17:44075856 [GRCh38]
Chr17:42153224 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.101A>T (p.Asp34Val) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV001253456] Chr17:44071066 [GRCh38]
Chr17:42148434 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.338G>A (p.Gly113Glu) single nucleotide variant not provided [RCV001311131] Chr17:44074692 [GRCh38]
Chr17:42152060 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.680_682del (p.Ser227_Ile228delinsPhe) deletion not provided [RCV001268692] Chr17:44075682..44075684 [GRCh38]
Chr17:42153050..42153052 [GRCh37]
Chr17:17q21.31
pathogenic
NM_138387.4(G6PC3):c.684del (p.Ser229fs) deletion not provided [RCV001268693] Chr17:44075686 [GRCh38]
Chr17:42153054 [GRCh37]
Chr17:17q21.31
pathogenic
NM_138387.4(G6PC3):c.581G>A (p.Arg194Gln) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV001314666] Chr17:44075355 [GRCh38]
Chr17:42152723 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.626G>A (p.Gly209Asp) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV001372546] Chr17:44075400 [GRCh38]
Chr17:42152768 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.677+10G>A single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV001421216] Chr17:44075461 [GRCh38]
Chr17:42152829 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.228T>G (p.Phe76Leu) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV001370646] Chr17:44074169 [GRCh38]
Chr17:42151537 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.666G>A (p.Leu222=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV001345671] Chr17:44075440 [GRCh38]
Chr17:42152808 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.758_781del (p.Arg253_Gly260del) deletion Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV001301378] Chr17:44075757..44075780 [GRCh38]
Chr17:42153125..42153148 [GRCh37]
Chr17:17q21.31
pathogenic|uncertain significance
NM_138387.4(G6PC3):c.11C>T (p.Thr4Met) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV001301599]|not provided [RCV004720843] Chr17:44070976 [GRCh38]
Chr17:42148344 [GRCh37]
Chr17:17q21.31
likely benign|uncertain significance
NM_138387.4(G6PC3):c.16G>T (p.Gly6Cys) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV001369441] Chr17:44070981 [GRCh38]
Chr17:42148349 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.568G>A (p.Val190Met) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV001342710] Chr17:44075342 [GRCh38]
Chr17:42152710 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.737G>A (p.Arg246Gln) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV001297498]|not provided [RCV001509548] Chr17:44075739 [GRCh38]
Chr17:42153107 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.166G>A (p.Ala56Thr) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV001347996] Chr17:44071131 [GRCh38]
Chr17:42148499 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.1001T>C (p.Met334Thr) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV001340897] Chr17:44076003 [GRCh38]
Chr17:42153371 [GRCh37]
Chr17:17q21.31
uncertain significance
NC_000017.10:g.(?_42151521)_42160591dup duplication Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV001352629]   uncertain significance
NM_138387.4(G6PC3):c.1022C>T (p.Pro341Leu) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV001350141] Chr17:44076024 [GRCh38]
Chr17:42153392 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.516G>C (p.Val172=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV001473336] Chr17:44075068 [GRCh38]
Chr17:42152436 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.45A>G (p.Leu15=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV001441400] Chr17:44071010 [GRCh38]
Chr17:42148378 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.510C>T (p.His170=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV001401668] Chr17:44075062 [GRCh38]
Chr17:42152430 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.657A>G (p.Thr219=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV001443788] Chr17:44075431 [GRCh38]
Chr17:42152799 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.924C>G (p.Leu308=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV001405215] Chr17:44075926 [GRCh38]
Chr17:42153294 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.677+9C>T single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV001410008] Chr17:44075460 [GRCh38]
Chr17:42152828 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.192C>T (p.Thr64=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV001486157] Chr17:44071157 [GRCh38]
Chr17:42148525 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.42G>A (p.Ala14=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV001458068] Chr17:44071007 [GRCh38]
Chr17:42148375 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.536-7C>G single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV001480016] Chr17:44075303 [GRCh38]
Chr17:42152671 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.642T>C (p.Tyr214=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV001452293] Chr17:44075416 [GRCh38]
Chr17:42152784 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.677+1G>A single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV001377785] Chr17:44075452 [GRCh38]
Chr17:42152820 [GRCh37]
Chr17:17q21.31
pathogenic|likely pathogenic
NM_138387.4(G6PC3):c.809A>G (p.Tyr270Cys) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV001859344]|not provided [RCV001507888] Chr17:44075811 [GRCh38]
Chr17:42153179 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.132C>T (p.Pro44=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV001442143] Chr17:44071097 [GRCh38]
Chr17:42148465 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.807C>T (p.Cys269=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV001476289] Chr17:44075809 [GRCh38]
Chr17:42153177 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.213C>T (p.Phe71=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV001466532] Chr17:44071178 [GRCh38]
Chr17:42148546 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.153C>G (p.Arg51=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV001438782] Chr17:44071118 [GRCh38]
Chr17:42148486 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.798C>T (p.His266=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV001399539] Chr17:44075800 [GRCh38]
Chr17:42153168 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.183C>A (p.Ser61Arg) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV002227830] Chr17:44071148 [GRCh38]
Chr17:42148516 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.482G>C (p.Arg161Pro) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV002227831] Chr17:44075034 [GRCh38]
Chr17:42152402 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.643T>C (p.Trp215Arg) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV001882883]|not provided [RCV001763303] Chr17:44075417 [GRCh38]
Chr17:42152785 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.1030C>T (p.His344Tyr) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV001869679]|not specified [RCV001819194] Chr17:44076032 [GRCh38]
Chr17:42153400 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.850A>G (p.Ile284Val) single nucleotide variant G6PC3-related disorder [RCV003416480]|not specified [RCV001822512] Chr17:44075852 [GRCh38]
Chr17:42153220 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.849G>A (p.Lys283=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV002542680]|G6PC3-related disorder [RCV003968583]|not specified [RCV001822693] Chr17:44075851 [GRCh38]
Chr17:42153219 [GRCh37]
Chr17:17q21.31
likely benign
GRCh37/hg19 17q21.31(chr17:42085508-42361563)x3 copy number gain not provided [RCV001836539] Chr17:42085508..42361563 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.418C>T (p.Arg140Cys) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV002040463] Chr17:44074970 [GRCh38]
Chr17:42152338 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.305C>T (p.Ser102Phe) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV001874970] Chr17:44074246 [GRCh38]
Chr17:42151614 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.145G>A (p.Ala49Thr) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV002022145] Chr17:44071110 [GRCh38]
Chr17:42148478 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.184C>T (p.Leu62Phe) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV001908783] Chr17:44071149 [GRCh38]
Chr17:42148517 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.736C>T (p.Arg246Trp) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV002005110] Chr17:44075738 [GRCh38]
Chr17:42153106 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.337G>A (p.Gly113Arg) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV001824234] Chr17:44074691 [GRCh38]
Chr17:42152059 [GRCh37]
Chr17:17q21.31
likely pathogenic
NM_138387.4(G6PC3):c.765_766del (p.Ala257fs) deletion Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV001885383]|not provided [RCV001837724] Chr17:44075767..44075768 [GRCh38]
Chr17:42153135..42153136 [GRCh37]
Chr17:17q21.31
pathogenic
NM_138387.4(G6PC3):c.635del (p.Leu212fs) deletion Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV002021924] Chr17:44075409 [GRCh38]
Chr17:42152777 [GRCh37]
Chr17:17q21.31
pathogenic
NM_138387.4(G6PC3):c.677+5G>A single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV001911608] Chr17:44075456 [GRCh38]
Chr17:42152824 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.910C>T (p.Pro304Ser) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV001871323] Chr17:44075912 [GRCh38]
Chr17:42153280 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.536-3T>G single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV001908397] Chr17:44075307 [GRCh38]
Chr17:42152675 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.732T>A (p.Asp244Glu) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV001957095] Chr17:44075734 [GRCh38]
Chr17:42153102 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.110T>G (p.Ile37Ser) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV002048398] Chr17:44071075 [GRCh38]
Chr17:42148443 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.537C>T (p.Gly179=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV001990371] Chr17:44075311 [GRCh38]
Chr17:42152679 [GRCh37]
Chr17:17q21.31
likely benign|uncertain significance
NM_138387.4(G6PC3):c.106A>C (p.Lys36Gln) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV001887110] Chr17:44071071 [GRCh38]
Chr17:42148439 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.358G>T (p.Ala120Ser) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV001975515] Chr17:44074712 [GRCh38]
Chr17:42152080 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.731A>G (p.Asp244Gly) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV001973051] Chr17:44075733 [GRCh38]
Chr17:42153101 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.98G>A (p.Gly33Asp) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV002029700] Chr17:44071063 [GRCh38]
Chr17:42148431 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.218+1G>A single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV001931536] Chr17:44071184 [GRCh38]
Chr17:42148552 [GRCh37]
Chr17:17q21.31
pathogenic
NM_138387.4(G6PC3):c.412C>T (p.Arg138Cys) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV001936723] Chr17:44074766 [GRCh38]
Chr17:42152134 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.300C>A (p.Phe100Leu) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV001897759] Chr17:44074241 [GRCh38]
Chr17:42151609 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.37G>C (p.Glu13Gln) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV002015374] Chr17:44071002 [GRCh38]
Chr17:42148370 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.281C>T (p.Pro94Leu) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV001880569] Chr17:44074222 [GRCh38]
Chr17:42151590 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.224T>C (p.Leu75Pro) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV001903050] Chr17:44074165 [GRCh38]
Chr17:42151533 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.56T>C (p.Leu19Pro) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV002029047] Chr17:44071021 [GRCh38]
Chr17:42148389 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.380C>T (p.Thr127Met) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV001903397] Chr17:44074734 [GRCh38]
Chr17:42152102 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.740C>G (p.Pro247Arg) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV001883649] Chr17:44075742 [GRCh38]
Chr17:42153110 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.86T>C (p.Ile29Thr) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV001932218] Chr17:44071051 [GRCh38]
Chr17:42148419 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.536-4C>G single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV001977471] Chr17:44075306 [GRCh38]
Chr17:42152674 [GRCh37]
Chr17:17q21.31
likely benign|uncertain significance
NM_138387.4(G6PC3):c.937A>T (p.Asn313Tyr) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV001995309] Chr17:44075939 [GRCh38]
Chr17:42153307 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.677+4A>G single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV002015940] Chr17:44075455 [GRCh38]
Chr17:42152823 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.806_808del (p.Cys269del) deletion Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV001981141] Chr17:44075806..44075808 [GRCh38]
Chr17:42153174..42153176 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.710G>A (p.Arg237Gln) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV002028833] Chr17:44075712 [GRCh38]
Chr17:42153080 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.816G>A (p.Gln272=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV001995151] Chr17:44075818 [GRCh38]
Chr17:42153186 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.929A>T (p.Tyr310Phe) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV001878811] Chr17:44075931 [GRCh38]
Chr17:42153299 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.981C>T (p.Leu327=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV002185981] Chr17:44075983 [GRCh38]
Chr17:42153351 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.9C>T (p.Ser3=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV002104779]|not provided [RCV004721020] Chr17:44070974 [GRCh38]
Chr17:42148342 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.240C>G (p.Pro80=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV002127897] Chr17:44074181 [GRCh38]
Chr17:42151549 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.536-12C>A single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV002075140] Chr17:44075298 [GRCh38]
Chr17:42152666 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.535+14G>C single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV002170680] Chr17:44075101 [GRCh38]
Chr17:42152469 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.54G>A (p.Gln18=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV002094419] Chr17:44071019 [GRCh38]
Chr17:42148387 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.81C>T (p.Leu27=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV002171555] Chr17:44071046 [GRCh38]
Chr17:42148414 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.480G>A (p.Ser160=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV002080865] Chr17:44075032 [GRCh38]
Chr17:42152400 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.486C>T (p.Ile162=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV002133217] Chr17:44075038 [GRCh38]
Chr17:42152406 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.678-8C>A single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV002093370] Chr17:44075672 [GRCh38]
Chr17:42153040 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.591C>T (p.Ser197=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV002083578] Chr17:44075365 [GRCh38]
Chr17:42152733 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.678-14C>A single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV002156892] Chr17:44075666 [GRCh38]
Chr17:42153034 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.1032C>T (p.His344=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV002164453] Chr17:44076034 [GRCh38]
Chr17:42153402 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.171G>T (p.Val57=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV002175959] Chr17:44071136 [GRCh38]
Chr17:42148504 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.21G>T (p.Ala7=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV002202304] Chr17:44070986 [GRCh38]
Chr17:42148354 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.536-10A>T single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV002219067] Chr17:44075300 [GRCh38]
Chr17:42152668 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.575T>C (p.Met192Thr) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003114785] Chr17:44075349 [GRCh38]
Chr17:42152717 [GRCh37]
Chr17:17q21.31
uncertain significance
NC_000017.10:g.(?_42151508)_(42153411_?)del deletion Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003123069] Chr17:42151508..42153411 [GRCh37]
Chr17:17q21.31
pathogenic
NC_000017.10:g.(?_42151508)_(42153411_?)dup duplication Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003123070] Chr17:42151508..42153411 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.144C>A (p.Tyr48Ter) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV002283953]|not provided [RCV002511154] Chr17:44071109 [GRCh38]
Chr17:42148477 [GRCh37]
Chr17:17q21.31
pathogenic
NM_138387.4(G6PC3):c.142T>G (p.Tyr48Asp) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV002297614] Chr17:44071107 [GRCh38]
Chr17:42148475 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.203A>G (p.Asn68Ser) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV002301213] Chr17:44071168 [GRCh38]
Chr17:42148536 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.459C>G (p.Phe153Leu) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV002815582] Chr17:44075011 [GRCh38]
Chr17:42152379 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.211_213dup (p.Phe71_Lys72insPhe) duplication Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV002993508] Chr17:44071173..44071174 [GRCh38]
Chr17:42148541..42148542 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.674C>T (p.Ser225Phe) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV002909074] Chr17:44075448 [GRCh38]
Chr17:42152816 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.596A>T (p.Tyr199Phe) single nucleotide variant Inborn genetic diseases [RCV002777781] Chr17:44075370 [GRCh38]
Chr17:42152738 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.146C>T (p.Ala49Val) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV002686406] Chr17:44071111 [GRCh38]
Chr17:42148479 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.143A>G (p.Tyr48Cys) single nucleotide variant Inborn genetic diseases [RCV002907481] Chr17:44071108 [GRCh38]
Chr17:42148476 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.284C>T (p.Ala95Val) single nucleotide variant Inborn genetic diseases [RCV002841873] Chr17:44074225 [GRCh38]
Chr17:42151593 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.147C>T (p.Ala49=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV002686342] Chr17:44071112 [GRCh38]
Chr17:42148480 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.453C>T (p.Cys151=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV002726812] Chr17:44075005 [GRCh38]
Chr17:42152373 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.384C>T (p.Ala128=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV002662624] Chr17:44074738 [GRCh38]
Chr17:42152106 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.790G>A (p.Ala264Thr) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV002572084] Chr17:44075792 [GRCh38]
Chr17:42153160 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.30G>C (p.Val10=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV002866414] Chr17:44070995 [GRCh38]
Chr17:42148363 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.886C>T (p.Pro296Ser) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV002923235] Chr17:44075888 [GRCh38]
Chr17:42153256 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.280C>T (p.Pro94Ser) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV002658721] Chr17:44074221 [GRCh38]
Chr17:42151589 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.765del (p.Ala257fs) deletion Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV002885411] Chr17:44075767 [GRCh38]
Chr17:42153135 [GRCh37]
Chr17:17q21.31
pathogenic
NM_138387.4(G6PC3):c.958T>C (p.Trp320Arg) single nucleotide variant Inborn genetic diseases [RCV002911017] Chr17:44075960 [GRCh38]
Chr17:42153328 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.262G>A (p.Gly88Ser) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003054465] Chr17:44074203 [GRCh38]
Chr17:42151571 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.416+11G>A single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003008292] Chr17:44074781 [GRCh38]
Chr17:42152149 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.138C>T (p.Ala46=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV002894581] Chr17:44071103 [GRCh38]
Chr17:42148471 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.536-11C>T single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV002663984] Chr17:44075299 [GRCh38]
Chr17:42152667 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.837A>G (p.Gly279=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV002745406] Chr17:44075839 [GRCh38]
Chr17:42153207 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.651C>G (p.Leu217=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003024543] Chr17:44075425 [GRCh38]
Chr17:42152793 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.490A>G (p.Ile164Val) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003082335] Chr17:44075042 [GRCh38]
Chr17:42152410 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.416+6C>T single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV002642572] Chr17:44074776 [GRCh38]
Chr17:42152144 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.555G>A (p.Leu185=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003040887] Chr17:44075329 [GRCh38]
Chr17:42152697 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.1007G>C (p.Ser336Thr) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV002928993] Chr17:44076009 [GRCh38]
Chr17:42153377 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.820C>T (p.Arg274Cys) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV002623677] Chr17:44075822 [GRCh38]
Chr17:42153190 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.386T>C (p.Leu129Pro) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003023681] Chr17:44074740 [GRCh38]
Chr17:42152108 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.481C>T (p.Arg161Ter) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003064457] Chr17:44075033 [GRCh38]
Chr17:42152401 [GRCh37]
Chr17:17q21.31
pathogenic
NM_138387.4(G6PC3):c.1002G>T (p.Met334Ile) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV002966810] Chr17:44076004 [GRCh38]
Chr17:42153372 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.529A>G (p.Ile177Val) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV002581636] Chr17:44075081 [GRCh38]
Chr17:42152449 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.823C>G (p.Arg275Gly) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV002833339] Chr17:44075825 [GRCh38]
Chr17:42153193 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.492C>T (p.Ile164=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003027467] Chr17:44075044 [GRCh38]
Chr17:42152412 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.207C>G (p.Leu69=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003045979] Chr17:44071172 [GRCh38]
Chr17:42148540 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.124T>A (p.Tyr42Asn) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003089699] Chr17:44071089 [GRCh38]
Chr17:42148457 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.560C>T (p.Thr187Ile) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003070209] Chr17:44075334 [GRCh38]
Chr17:42152702 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.626G>C (p.Gly209Ala) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV002603399] Chr17:44075400 [GRCh38]
Chr17:42152768 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.304T>G (p.Ser102Ala) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV002943565] Chr17:44074245 [GRCh38]
Chr17:42151613 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.1023G>A (p.Pro341=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003068766] Chr17:44076025 [GRCh38]
Chr17:42153393 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.467C>T (p.Ala156Val) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003093704] Chr17:44075019 [GRCh38]
Chr17:42152387 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.920G>A (p.Ser307Asn) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003224684] Chr17:44075922 [GRCh38]
Chr17:42153290 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.218+486A>G single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003143437] Chr17:44071669 [GRCh38]
Chr17:42149037 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.589A>T (p.Ser197Cys) single nucleotide variant Inborn genetic diseases [RCV003346033] Chr17:44075363 [GRCh38]
Chr17:42152731 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.24C>T (p.Gly8=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003873622] Chr17:44070989 [GRCh38]
Chr17:42148357 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.535+19G>A single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003875245] Chr17:44075106 [GRCh38]
Chr17:42152474 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.171G>A (p.Val57=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003825532] Chr17:44071136 [GRCh38]
Chr17:42148504 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.160G>A (p.Gly54Ser) single nucleotide variant not provided [RCV003480245] Chr17:44071125 [GRCh38]
Chr17:42148493 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.404C>T (p.Thr135Ile) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003602321] Chr17:44074758 [GRCh38]
Chr17:42152126 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.325+20del deletion Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003600212] Chr17:44074286 [GRCh38]
Chr17:42151654 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.57A>G (p.Leu19=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003601460] Chr17:44071022 [GRCh38]
Chr17:42148390 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.765A>G (p.Ser255=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003601599] Chr17:44075767 [GRCh38]
Chr17:42153135 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.544C>T (p.Leu182=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003600712] Chr17:44075318 [GRCh38]
Chr17:42152686 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.891G>A (p.Leu297=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003601693] Chr17:44075893 [GRCh38]
Chr17:42153261 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.165C>T (p.Ile55=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003601731] Chr17:44071130 [GRCh38]
Chr17:42148498 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.325+14_325+17del deletion Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003600564] Chr17:44074278..44074281 [GRCh38]
Chr17:42151646..42151649 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.27C>T (p.Ile9=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003600837] Chr17:44070992 [GRCh38]
Chr17:42148360 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.536-14C>T single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003600843] Chr17:44075296 [GRCh38]
Chr17:42152664 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.141C>T (p.Tyr47=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003600856] Chr17:44071106 [GRCh38]
Chr17:42148474 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.267C>G (p.Tyr89Ter) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003602104] Chr17:44074208 [GRCh38]
Chr17:42151576 [GRCh37]
Chr17:17q21.31
pathogenic
NM_138387.4(G6PC3):c.945C>G (p.Leu315=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003600648] Chr17:44075947 [GRCh38]
Chr17:42153315 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.30G>A (p.Val10=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003600652] Chr17:44070995 [GRCh38]
Chr17:42148363 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.345C>T (p.Cys115=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003601828] Chr17:44074699 [GRCh38]
Chr17:42152067 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.672T>A (p.Leu224=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003600895] Chr17:44075446 [GRCh38]
Chr17:42152814 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.326-20G>A single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003602129] Chr17:44074660 [GRCh38]
Chr17:42152028 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.218+8A>G single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003601982] Chr17:44071191 [GRCh38]
Chr17:42148559 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.768G>A (p.Gly256=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003830844] Chr17:44075770 [GRCh38]
Chr17:42153138 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.417-15C>G single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003600865] Chr17:44074954 [GRCh38]
Chr17:42152322 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.535+18C>T single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003600963] Chr17:44075105 [GRCh38]
Chr17:42152473 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.678-16C>T single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003602145] Chr17:44075664 [GRCh38]
Chr17:42153032 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.163del (p.Ile55fs) deletion Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003602488] Chr17:44071128 [GRCh38]
Chr17:42148496 [GRCh37]
Chr17:17q21.31
pathogenic
NM_138387.4(G6PC3):c.12G>A (p.Thr4=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003601369] Chr17:44070977 [GRCh38]
Chr17:42148345 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.870C>A (p.Ala290=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003601387] Chr17:44075872 [GRCh38]
Chr17:42153240 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.215del (p.Lys72fs) deletion Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003495515] Chr17:44071179 [GRCh38]
Chr17:42148547 [GRCh37]
Chr17:17q21.31
pathogenic
NM_138387.4(G6PC3):c.441C>T (p.Ser147=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003601074] Chr17:44074993 [GRCh38]
Chr17:42152361 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.575dup (p.Met192fs) duplication Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003602218] Chr17:44075348..44075349 [GRCh38]
Chr17:42152716..42152717 [GRCh37]
Chr17:17q21.31
pathogenic
NM_138387.4(G6PC3):c.710G>C (p.Arg237Pro) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003602512] Chr17:44075712 [GRCh38]
Chr17:42153080 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.651C>T (p.Leu217=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003826612] Chr17:44075425 [GRCh38]
Chr17:42152793 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.218+18T>C single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003496179] Chr17:44071201 [GRCh38]
Chr17:42148569 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.327C>A (p.Gly109=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003602053] Chr17:44074681 [GRCh38]
Chr17:42152049 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.855C>T (p.Ala285=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003602057] Chr17:44075857 [GRCh38]
Chr17:42153225 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.87C>A (p.Ile29=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003495685] Chr17:44071052 [GRCh38]
Chr17:42148420 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.583G>A (p.Glu195Lys) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003600250] Chr17:44075357 [GRCh38]
Chr17:42152725 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.219-12G>A single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003600272] Chr17:44074148 [GRCh38]
Chr17:42151516 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.105C>A (p.Pro35=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003824720] Chr17:44071070 [GRCh38]
Chr17:42148438 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.417-18T>G single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003601727] Chr17:44074951 [GRCh38]
Chr17:42152319 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.536-2A>G single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003495021] Chr17:44075308 [GRCh38]
Chr17:42152676 [GRCh37]
Chr17:17q21.31
likely pathogenic
NM_138387.4(G6PC3):c.210_213del (p.Phe71fs) deletion Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003600492] Chr17:44071175..44071178 [GRCh38]
Chr17:42148543..42148546 [GRCh37]
Chr17:17q21.31
pathogenic
NM_138387.4(G6PC3):c.536-5C>T single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003600643] Chr17:44075305 [GRCh38]
Chr17:42152673 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.456C>T (p.Thr152=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003600839] Chr17:44075008 [GRCh38]
Chr17:42152376 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.246G>A (p.Trp82Ter) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003495987] Chr17:44074187 [GRCh38]
Chr17:42151555 [GRCh37]
Chr17:17q21.31
pathogenic
NM_138387.4(G6PC3):c.325+18T>C single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003602036] Chr17:44074284 [GRCh38]
Chr17:42151652 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.416+13C>T single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003601463] Chr17:44074783 [GRCh38]
Chr17:42152151 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.420C>T (p.Arg140=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003827809] Chr17:44074972 [GRCh38]
Chr17:42152340 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.678-8C>T single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003601896] Chr17:44075672 [GRCh38]
Chr17:42153040 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.62G>A (p.Trp21Ter) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003599911] Chr17:44071027 [GRCh38]
Chr17:42148395 [GRCh37]
Chr17:17q21.31
pathogenic
NM_138387.4(G6PC3):c.470T>C (p.Val157Ala) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003600739] Chr17:44075022 [GRCh38]
Chr17:42152390 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.867G>A (p.Leu289=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003601268] Chr17:44075869 [GRCh38]
Chr17:42153237 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.326-7C>T single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003495362] Chr17:44074673 [GRCh38]
Chr17:42152041 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.714T>C (p.Pro238=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003600779] Chr17:44075716 [GRCh38]
Chr17:42153084 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.417-13C>T single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003601249] Chr17:44074956 [GRCh38]
Chr17:42152324 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.81C>G (p.Leu27=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003601252] Chr17:44071046 [GRCh38]
Chr17:42148414 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.416+14A>G single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003495393] Chr17:44074784 [GRCh38]
Chr17:42152152 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.456C>A (p.Thr152=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003602078] Chr17:44075008 [GRCh38]
Chr17:42152376 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.326-19C>T single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003602080] Chr17:44074661 [GRCh38]
Chr17:42152029 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.528A>G (p.Leu176=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003600825] Chr17:44075080 [GRCh38]
Chr17:42152448 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.601T>C (p.Leu201=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003830185] Chr17:44075375 [GRCh38]
Chr17:42152743 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.55C>T (p.Leu19=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003602274] Chr17:44071020 [GRCh38]
Chr17:42148388 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.536-11_536-7del microsatellite Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003494615] Chr17:44075294..44075298 [GRCh38]
Chr17:42152662..42152666 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.416+19C>G single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003496732] Chr17:44074789 [GRCh38]
Chr17:42152157 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.417-16C>T single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003600869] Chr17:44074953 [GRCh38]
Chr17:42152321 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.865C>T (p.Leu289=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003601758] Chr17:44075867 [GRCh38]
Chr17:42153235 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.954C>T (p.Thr318=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003602400] Chr17:44075956 [GRCh38]
Chr17:42153324 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.325+2T>G single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003496187] Chr17:44074268 [GRCh38]
Chr17:42151636 [GRCh37]
Chr17:17q21.31
likely pathogenic
NM_138387.4(G6PC3):c.285C>A (p.Ala95=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003601370] Chr17:44074226 [GRCh38]
Chr17:42151594 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.99C>A (p.Gly33=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003601388] Chr17:44071064 [GRCh38]
Chr17:42148432 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.417-19T>G single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003602179] Chr17:44074950 [GRCh38]
Chr17:42152318 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.63G>A (p.Trp21Ter) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003495663] Chr17:44071028 [GRCh38]
Chr17:42148396 [GRCh37]
Chr17:17q21.31
pathogenic
NM_138387.4(G6PC3):c.3G>T (p.Met1Ile) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003602199] Chr17:44070968 [GRCh38]
Chr17:42148336 [GRCh37]
Chr17:17q21.31
pathogenic
NM_138387.4(G6PC3):c.669T>C (p.Asp223=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003495701] Chr17:44075443 [GRCh38]
Chr17:42152811 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.678-6C>T single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003600520] Chr17:44075674 [GRCh38]
Chr17:42153042 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.325G>A (p.Gly109Ser) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003600539]|not provided [RCV004723397] Chr17:44074266 [GRCh38]
Chr17:42151634 [GRCh37]
Chr17:17q21.31
likely pathogenic
NM_138387.4(G6PC3):c.861T>A (p.Leu287=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003600541] Chr17:44075863 [GRCh38]
Chr17:42153231 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.993A>G (p.Ala331=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003601003] Chr17:44075995 [GRCh38]
Chr17:42153363 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.325+14A>G single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003601448] Chr17:44074280 [GRCh38]
Chr17:42151648 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.684C>A (p.Ile228=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003495762] Chr17:44075686 [GRCh38]
Chr17:42153054 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.129C>T (p.Phe43=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003495765] Chr17:44071094 [GRCh38]
Chr17:42148462 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.416+13C>A single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003600572] Chr17:44074783 [GRCh38]
Chr17:42152151 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.416+1G>A single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003602221] Chr17:44074771 [GRCh38]
Chr17:42152139 [GRCh37]
Chr17:17q21.31
likely pathogenic
NM_138387.4(G6PC3):c.777G>A (p.Leu259=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003599927] Chr17:44075779 [GRCh38]
Chr17:42153147 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.99C>T (p.Gly33=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003600616] Chr17:44071064 [GRCh38]
Chr17:42148432 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.237G>A (p.Arg79=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003600623] Chr17:44074178 [GRCh38]
Chr17:42151546 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.417-11C>T single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003602260] Chr17:44074958 [GRCh38]
Chr17:42152326 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.585G>A (p.Glu195=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003600072] Chr17:44075359 [GRCh38]
Chr17:42152727 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.747C>T (p.Ala249=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003600664] Chr17:44075749 [GRCh38]
Chr17:42153117 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.688C>T (p.Leu230=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003601149] Chr17:44075690 [GRCh38]
Chr17:42153058 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.393G>A (p.Ser131=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003601078] Chr17:44074747 [GRCh38]
Chr17:42152115 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.535+8A>G single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003601458] Chr17:44075095 [GRCh38]
Chr17:42152463 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.417-11C>G single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003601887] Chr17:44074958 [GRCh38]
Chr17:42152326 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.12G>C (p.Thr4=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003495037] Chr17:44070977 [GRCh38]
Chr17:42148345 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.207C>T (p.Leu69=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003601624] Chr17:44071172 [GRCh38]
Chr17:42148540 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.909C>A (p.Pro303=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003496058] Chr17:44075911 [GRCh38]
Chr17:42153279 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.648C>T (p.Thr216=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003495082] Chr17:44075422 [GRCh38]
Chr17:42152790 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.90C>T (p.Thr30=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003496555] Chr17:44071055 [GRCh38]
Chr17:42148423 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.416G>T (p.Ser139Ile) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003494754] Chr17:44074770 [GRCh38]
Chr17:42152138 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.218+16C>T single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003496613] Chr17:44071199 [GRCh38]
Chr17:42148567 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.219-18G>T single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003496264] Chr17:44074142 [GRCh38]
Chr17:42151510 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.218+2T>C single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003496676] Chr17:44071185 [GRCh38]
Chr17:42148553 [GRCh37]
Chr17:17q21.31
pathogenic
NM_138387.4(G6PC3):c.753G>A (p.Leu251=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003881861] Chr17:44075755 [GRCh38]
Chr17:42153123 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.877C>T (p.Leu293=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003496290] Chr17:44075879 [GRCh38]
Chr17:42153247 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.376del (p.Ile125_Met126insTer) deletion Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003496710] Chr17:44074729 [GRCh38]
Chr17:42152097 [GRCh37]
Chr17:17q21.31
pathogenic
NM_138387.4(G6PC3):c.60C>G (p.Ala20=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003495576] Chr17:44071025 [GRCh38]
Chr17:42148393 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.131C>T (p.Pro44Leu) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003494753] Chr17:44071096 [GRCh38]
Chr17:42148464 [GRCh37]
Chr17:17q21.31
pathogenic
NM_138387.4(G6PC3):c.384C>G (p.Ala128=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003494761] Chr17:44074738 [GRCh38]
Chr17:42152106 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.408G>A (p.Arg136=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003497207] Chr17:44074762 [GRCh38]
Chr17:42152130 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.957C>T (p.Leu319=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003851247] Chr17:44075959 [GRCh38]
Chr17:42153327 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.1014G>A (p.Gln338=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003835021] Chr17:44076016 [GRCh38]
Chr17:42153384 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.416+17G>A single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003496866] Chr17:44074787 [GRCh38]
Chr17:42152155 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.218+20C>T single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003835863] Chr17:44071203 [GRCh38]
Chr17:42148571 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.535+14G>A single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003851327] Chr17:44075101 [GRCh38]
Chr17:42152469 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.417-1G>A single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003856756] Chr17:44074968 [GRCh38]
Chr17:42152336 [GRCh37]
Chr17:17q21.31
likely pathogenic
NM_138387.4(G6PC3):c.168G>T (p.Ala56=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003811656] Chr17:44071133 [GRCh38]
Chr17:42148501 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.684C>T (p.Ile228=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003833992] Chr17:44075686 [GRCh38]
Chr17:42153054 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.219-12G>T single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003497067] Chr17:44074148 [GRCh38]
Chr17:42151516 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.495A>G (p.Leu165=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003839161] Chr17:44075047 [GRCh38]
Chr17:42152415 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.903C>T (p.Gly301=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003832382] Chr17:44075905 [GRCh38]
Chr17:42153273 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.416+8C>G single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003496975] Chr17:44074778 [GRCh38]
Chr17:42152146 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.792C>T (p.Ala264=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003837287] Chr17:44075794 [GRCh38]
Chr17:42153162 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.325+8G>A single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003842333] Chr17:44074274 [GRCh38]
Chr17:42151642 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.218+17del deletion Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003863295] Chr17:44071198 [GRCh38]
Chr17:42148566 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.108G>A (p.Lys36=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003847421] Chr17:44071073 [GRCh38]
Chr17:42148441 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.234C>T (p.Asp78=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003841695] Chr17:44074175 [GRCh38]
Chr17:42151543 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.861T>C (p.Leu287=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003846824] Chr17:44075863 [GRCh38]
Chr17:42153231 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.535+20G>C single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003818408] Chr17:44075107 [GRCh38]
Chr17:42152475 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.218+9G>C single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003869917] Chr17:44071192 [GRCh38]
Chr17:42148560 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.909C>G (p.Pro303=) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003853034] Chr17:44075911 [GRCh38]
Chr17:42153279 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.218+14G>C single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003859581] Chr17:44071197 [GRCh38]
Chr17:42148565 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.678-1G>T single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003991691] Chr17:44075679 [GRCh38]
Chr17:42153047 [GRCh37]
Chr17:17q21.31
likely pathogenic
NM_138387.4(G6PC3):c.-4C>T single nucleotide variant G6PC3-related disorder [RCV003894622] Chr17:44070962 [GRCh38]
Chr17:42148330 [GRCh37]
Chr17:17q21.31
likely benign
NM_138387.4(G6PC3):c.552G>A (p.Trp184Ter) single nucleotide variant Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [RCV003990506] Chr17:44075326 [GRCh38]
Chr17:42152694 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.908C>T (p.Pro303Leu) single nucleotide variant Inborn genetic diseases [RCV004390053] Chr17:44075910 [GRCh38]
Chr17:42153278 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.253C>T (p.His85Tyr) single nucleotide variant Inborn genetic diseases [RCV004618983] Chr17:44074194 [GRCh38]
Chr17:42151562 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_138387.4(G6PC3):c.383C>A (p.Ala128Asp) single nucleotide variant Inborn genetic diseases [RCV004618981] Chr17:44074737 [GRCh38]
Chr17:42152105 [GRCh37]
Chr17:17q21.31
uncertain significance
Single allele deletion Breast-ovarian cancer, familial, susceptibility to, 1 [RCV004759420] Chr17:41231503..41277589 [GRCh37]
Chr17:17q21.31-22
pathogenic
NM_138387.4(G6PC3):c.482G>A (p.Arg161Gln) single nucleotide variant G6PC3-related disorder [RCV004752575] Chr17:44075034 [GRCh38]
Chr17:42152402 [GRCh37]
Chr17:17q21.31
pathogenic
GRCh37/hg19 17q12-22(chr17:41196270-41277589) copy number loss Breast-ovarian cancer, familial, susceptibility to, 1 [RCV004759419] Chr17:41196270..41277589 [GRCh37]
Chr17:17q12-22
pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3534
Count of miRNA genes:801
Interacting mature miRNAs:912
Transcripts:ENST00000269097, ENST00000585361, ENST00000585962, ENST00000588558, ENST00000590253, ENST00000590639, ENST00000591696, ENST00000593115
Prediction methods:Microtar, Miranda, Pita, Pita,Targetscan, 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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
406996843GWAS645819_Hbody height QTL GWAS645819 (human)3e-08body height (VT:0001253)body height (CMO:0000106)174407083744070838Human
407210697GWAS859673_Hbody height QTL GWAS859673 (human)0.000004body height (VT:0001253)body height (CMO:0000106)174407083744070838Human

Markers in Region
WI-17645  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371742,153,546 - 42,153,672UniSTSGRCh37
Build 361739,509,072 - 39,509,198RGDNCBI36
Celera1738,861,640 - 38,861,766RGD
Cytogenetic Map17q21.31UniSTS
HuRef1737,917,474 - 37,917,600UniSTS
GeneMap99-GB4 RH Map17322.36UniSTS
Whitehead-RH Map17355.8UniSTS
NCBI RH Map17535.5UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2438 2788 2253 4972 1726 2351 6 624 1951 465 2269 7305 6472 53 3733 1 852 1744 1616 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_015818 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001319945 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001384165 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001384166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001384167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001384168 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_138387 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011525474 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317801 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC023855 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC002494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC021574 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC062596 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM790097 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB460416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000269097   ⟹   ENSP00000269097
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1744,070,735 - 44,076,344 (+)Ensembl
Ensembl Acc Id: ENST00000585361   ⟹   ENSP00000466983
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1744,070,730 - 44,076,344 (+)Ensembl
Ensembl Acc Id: ENST00000585962
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1744,070,913 - 44,073,939 (+)Ensembl
Ensembl Acc Id: ENST00000588558   ⟹   ENSP00000467624
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1744,070,730 - 44,076,344 (+)Ensembl
Ensembl Acc Id: ENST00000590253   ⟹   ENSP00000465111
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1744,070,730 - 44,076,344 (+)Ensembl
Ensembl Acc Id: ENST00000590639
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1744,071,167 - 44,075,832 (+)Ensembl
Ensembl Acc Id: ENST00000591696   ⟹   ENSP00000468677
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1744,070,892 - 44,075,841 (+)Ensembl
Ensembl Acc Id: ENST00000593115   ⟹   ENSP00000466821
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1744,070,745 - 44,076,341 (+)Ensembl
Ensembl Acc Id: ENST00000696383   ⟹   ENSP00000512593
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1744,070,620 - 44,076,319 (+)Ensembl
Ensembl Acc Id: ENST00000696384   ⟹   ENSP00000512594
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1744,070,701 - 44,076,344 (+)Ensembl
Ensembl Acc Id: ENST00000696385   ⟹   ENSP00000512595
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1744,070,788 - 44,076,329 (+)Ensembl
Ensembl Acc Id: ENST00000696386   ⟹   ENSP00000512596
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1744,070,813 - 44,076,344 (+)Ensembl
Ensembl Acc Id: ENST00000696387   ⟹   ENSP00000512597
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1744,070,813 - 44,076,344 (+)Ensembl
Ensembl Acc Id: ENST00000696388   ⟹   ENSP00000512598
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1744,070,843 - 44,076,344 (+)Ensembl
Ensembl Acc Id: ENST00000696389   ⟹   ENSP00000512599
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1744,070,854 - 44,076,343 (+)Ensembl
Ensembl Acc Id: ENST00000696390   ⟹   ENSP00000512600
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1744,070,857 - 44,076,343 (+)Ensembl
Ensembl Acc Id: ENST00000696391   ⟹   ENSP00000512601
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1744,070,878 - 44,076,343 (+)Ensembl
Ensembl Acc Id: ENST00000696392   ⟹   ENSP00000512602
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1744,070,893 - 44,082,151 (+)Ensembl
Ensembl Acc Id: ENST00000696393   ⟹   ENSP00000512603
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1744,070,957 - 44,078,104 (+)Ensembl
Ensembl Acc Id: ENST00000696405   ⟹   ENSP00000512607
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1744,070,913 - 44,080,172 (+)Ensembl
RefSeq Acc Id: NM_001319945   ⟹   NP_001306874
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381744,070,911 - 44,076,344 (+)NCBI
CHM1_11742,383,469 - 42,389,082 (+)NCBI
T2T-CHM13v2.01744,923,420 - 44,928,851 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001384165   ⟹   NP_001371094
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381744,070,735 - 44,076,344 (+)NCBI
T2T-CHM13v2.01744,923,244 - 44,928,851 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001384166   ⟹   NP_001371095
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381744,070,735 - 44,076,344 (+)NCBI
T2T-CHM13v2.01744,923,244 - 44,928,851 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001384167   ⟹   NP_001371096
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381744,070,735 - 44,076,344 (+)NCBI
T2T-CHM13v2.01744,923,244 - 44,928,851 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001384168   ⟹   NP_001371097
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381744,070,673 - 44,076,344 (+)NCBI
T2T-CHM13v2.01744,923,182 - 44,928,851 (+)NCBI
Sequence:
RefSeq Acc Id: NM_138387   ⟹   NP_612396
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381744,070,735 - 44,076,344 (+)NCBI
GRCh371742,148,098 - 42,153,712 (+)ENTREZGENE
Build 361739,503,644 - 39,509,238 (+)NCBI Archive
HuRef1737,912,029 - 37,917,640 (+)ENTREZGENE
CHM1_11742,383,469 - 42,389,082 (+)NCBI
T2T-CHM13v2.01744,923,244 - 44,928,851 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011525474   ⟹   XP_011523776
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381744,070,735 - 44,076,344 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054317801   ⟹   XP_054173776
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01744,923,244 - 44,928,851 (+)NCBI
RefSeq Acc Id: NP_612396   ⟸   NM_138387
- Peptide Label: isoform 1
- UniProtKB: Q8WU15 (UniProtKB/Swiss-Prot),   Q9BUM1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011523776   ⟸   XM_011525474
- Peptide Label: isoform X1
- UniProtKB: A0A8Q3SIG5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001306874   ⟸   NM_001319945
- Peptide Label: isoform 4
- UniProtKB: K7EJC5 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000269097   ⟸   ENST00000269097
Ensembl Acc Id: ENSP00000466983   ⟸   ENST00000585361
Ensembl Acc Id: ENSP00000467624   ⟸   ENST00000588558
Ensembl Acc Id: ENSP00000465111   ⟸   ENST00000590253
Ensembl Acc Id: ENSP00000468677   ⟸   ENST00000591696
Ensembl Acc Id: ENSP00000466821   ⟸   ENST00000593115
RefSeq Acc Id: NP_001371097   ⟸   NM_001384168
- Peptide Label: isoform 2
- UniProtKB: A0A8Q3SIG5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001371094   ⟸   NM_001384165
- Peptide Label: isoform 2
- UniProtKB: A0A8Q3SIG5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001371095   ⟸   NM_001384166
- Peptide Label: isoform 2
- UniProtKB: A0A8Q3SIG5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001371096   ⟸   NM_001384167
- Peptide Label: isoform 2
- UniProtKB: A0A8Q3SIG5 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000512607   ⟸   ENST00000696405
Ensembl Acc Id: ENSP00000512599   ⟸   ENST00000696389
Ensembl Acc Id: ENSP00000512596   ⟸   ENST00000696386
Ensembl Acc Id: ENSP00000512603   ⟸   ENST00000696393
Ensembl Acc Id: ENSP00000512595   ⟸   ENST00000696385
Ensembl Acc Id: ENSP00000512602   ⟸   ENST00000696392
Ensembl Acc Id: ENSP00000512600   ⟸   ENST00000696390
Ensembl Acc Id: ENSP00000512594   ⟸   ENST00000696384
Ensembl Acc Id: ENSP00000512601   ⟸   ENST00000696391
Ensembl Acc Id: ENSP00000512597   ⟸   ENST00000696387
Ensembl Acc Id: ENSP00000512593   ⟸   ENST00000696383
Ensembl Acc Id: ENSP00000512598   ⟸   ENST00000696388
RefSeq Acc Id: XP_054173776   ⟸   XM_054317801
- Peptide Label: isoform X1
- UniProtKB: A0A8Q3SIG5 (UniProtKB/TrEMBL)
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9BUM1-F1-model_v2 AlphaFold Q9BUM1 1-346 view protein structure

Promoters
RGD ID:6793777
Promoter ID:HG_KWN:26291
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000269097,   UC002IEY.1,   UC002IEZ.1,   UC002IFA.1,   UC010CZO.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361739,503,081 - 39,503,832 (+)MPROMDB
RGD ID:7235231
Promoter ID:EPDNEW_H23360
Type:initiation region
Name:G6PC3_2
Description:glucose-6-phosphatase catalytic subunit 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H23361  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381744,070,735 - 44,070,795EPDNEW
RGD ID:7235229
Promoter ID:EPDNEW_H23361
Type:initiation region
Name:G6PC3_1
Description:glucose-6-phosphatase catalytic subunit 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H23360  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381744,070,912 - 44,070,972EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:24861 AgrOrtholog
COSMIC G6PC3 COSMIC
Ensembl Genes ENSG00000141349 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000269097 ENTREZGENE
  ENST00000269097.9 UniProtKB/Swiss-Prot
  ENST00000585361.6 UniProtKB/TrEMBL
  ENST00000588558.6 UniProtKB/TrEMBL
  ENST00000590253 ENTREZGENE
  ENST00000590253.3 UniProtKB/TrEMBL
  ENST00000591696.1 UniProtKB/TrEMBL
  ENST00000593115.2 UniProtKB/TrEMBL
  ENST00000696383 ENTREZGENE
  ENST00000696383.1 UniProtKB/TrEMBL
  ENST00000696384.1 UniProtKB/TrEMBL
  ENST00000696385.1 UniProtKB/TrEMBL
  ENST00000696386.1 UniProtKB/TrEMBL
  ENST00000696387.1 UniProtKB/TrEMBL
  ENST00000696388.1 UniProtKB/TrEMBL
  ENST00000696389.1 UniProtKB/TrEMBL
  ENST00000696390.1 UniProtKB/TrEMBL
  ENST00000696391.1 UniProtKB/TrEMBL
  ENST00000696392.1 UniProtKB/TrEMBL
  ENST00000696393.1 UniProtKB/TrEMBL
  ENST00000696405.1 UniProtKB/TrEMBL
Gene3D-CATH Phosphatidic acid phosphatase type 2/haloperoxidase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000141349 GTEx
HGNC ID HGNC:24861 ENTREZGENE
Human Proteome Map G6PC3 Human Proteome Map
InterPro Glucose-6-phosphatase UniProtKB/Swiss-Prot
  P_Acid_Pase_2/haloperoxi_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P_Acid_Pase_2/haloperoxidase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:92579 UniProtKB/Swiss-Prot
NCBI Gene 92579 ENTREZGENE
OMIM 611045 OMIM
PANTHER GLUCOSE-6-PHOSPHATASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GLUCOSE-6-PHOSPHATASE 3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PAP2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134968446 PharmGKB
PIRSF Glucose-6-phosphatase UniProtKB/Swiss-Prot
SMART acidPPc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48317 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A8Q3SIG5 ENTREZGENE, UniProtKB/TrEMBL
  A0A8Q3SIL0_HUMAN UniProtKB/TrEMBL
  A0A8Q3SIR5_HUMAN UniProtKB/TrEMBL
  A0A8Q3WL73_HUMAN UniProtKB/TrEMBL
  A0A8Q3WL84_HUMAN UniProtKB/TrEMBL
  A0A8Q3WME5_HUMAN UniProtKB/TrEMBL
  G6PC3_HUMAN UniProtKB/Swiss-Prot
  K7EJC5 ENTREZGENE, UniProtKB/TrEMBL
  K7ENK1_HUMAN UniProtKB/TrEMBL
  K7EQ13_HUMAN UniProtKB/TrEMBL
  K7ESE6_HUMAN UniProtKB/TrEMBL
  Q8WU15 ENTREZGENE
  Q9BUM1 ENTREZGENE
UniProt Secondary Q8WU15 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-05-31 G6PC3  glucose-6-phosphatase catalytic subunit 3    glucose 6 phosphatase catalytic subunit 3  Symbol and/or name change 5135510 APPROVED
2016-03-21 G6PC3  glucose 6 phosphatase catalytic subunit 3    glucose 6 phosphatase, catalytic, 3  Symbol and/or name change 5135510 APPROVED