NLRP14 (NLR family pyrin domain containing 14) - Rat Genome Database

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Gene: NLRP14 (NLR family pyrin domain containing 14) Homo sapiens
Analyze
Symbol: NLRP14
Name: NLR family pyrin domain containing 14
RGD ID: 1315283
HGNC Page HGNC:22939
Description: Predicted to enable ATP binding activity. Involved in spermatogenesis. Predicted to be active in cytoplasm.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CLR11.2; GC-LRR; NACHT, leucine rich repeat and PYD containing 14; NACHT, LRR and PYD containing protein 14; NACHT, LRR and PYD domains-containing protein 14; NALP14; NLR family, pyrin domain containing 14; NOD5; nucleotide-binding oligomerization domain protein 5; nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14; PAN8
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38117,020,446 - 7,090,900 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl117,020,479 - 7,071,526 (+)EnsemblGRCh38hg38GRCh38
GRCh37117,041,710 - 7,092,757 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36116,998,276 - 7,049,333 (+)NCBINCBI36Build 36hg18NCBI36
Build 34117,016,372 - 7,049,333NCBI
Celera117,160,740 - 7,211,803 (+)NCBICelera
Cytogenetic Map11p15.4NCBI
HuRef116,700,195 - 6,751,227 (+)NCBIHuRef
CHM1_1117,040,627 - 7,091,687 (+)NCBICHM1_1
T2T-CHM13v2.0117,078,824 - 7,149,635 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytoplasm  (IBA,IEA)

Molecular Function
ATP binding  (IEA)

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12563287   PMID:12766759   PMID:16344560   PMID:16931801   PMID:18341998   PMID:19074885   PMID:20379614   PMID:20403135   PMID:21873635   PMID:25403012   PMID:25798074   PMID:26344197  
PMID:28423339   PMID:38060382  


Genomics

Comparative Map Data
NLRP14
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38117,020,446 - 7,090,900 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl117,020,479 - 7,071,526 (+)EnsemblGRCh38hg38GRCh38
GRCh37117,041,710 - 7,092,757 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36116,998,276 - 7,049,333 (+)NCBINCBI36Build 36hg18NCBI36
Build 34117,016,372 - 7,049,333NCBI
Celera117,160,740 - 7,211,803 (+)NCBICelera
Cytogenetic Map11p15.4NCBI
HuRef116,700,195 - 6,751,227 (+)NCBIHuRef
CHM1_1117,040,627 - 7,091,687 (+)NCBICHM1_1
T2T-CHM13v2.0117,078,824 - 7,149,635 (+)NCBIT2T-CHM13v2.0
Nlrp14
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm397106,712,662 - 106,797,310 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl7106,766,197 - 106,797,309 (+)EnsemblGRCm39 Ensembl
GRCm387107,113,455 - 107,198,103 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl7107,166,990 - 107,198,102 (+)EnsemblGRCm38mm10GRCm38
MGSCv377114,310,504 - 114,341,617 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv367106,958,167 - 106,989,279 (+)NCBIMGSCv36mm8
Celera7107,162,901 - 107,194,394 (+)NCBICelera
Cytogenetic Map7E3NCBI
cM Map756.1NCBI
Nlrp14
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81170,472,956 - 170,500,962 (+)NCBIGRCr8
mRatBN7.21161,069,141 - 161,089,158 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1161,061,165 - 161,089,222 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.01171,305,558 - 171,340,428 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1171,306,049 - 171,340,493 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01178,325,007 - 178,343,264 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41164,520,792 - 164,537,945 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1158,973,913 - 159,002,277 (+)NCBICelera
Cytogenetic Map1q33NCBI
Nlrp14
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541422,885,205 - 22,914,343 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541422,885,226 - 22,914,254 (+)NCBIChiLan1.0ChiLan1.0
NLRP14
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v299,426,349 - 9,549,015 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1119,391,774 - 9,443,639 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0117,122,928 - 7,174,772 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1116,805,331 - 6,856,718 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl116,805,331 - 6,856,718 (+)Ensemblpanpan1.1panPan2
NLRP14
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12130,713,700 - 30,922,332 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2130,713,351 - 30,907,113 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2130,284,577 - 30,328,235 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02131,522,062 - 31,566,213 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2131,522,374 - 31,701,331 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12130,852,579 - 30,894,542 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02131,015,517 - 31,059,147 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02131,310,739 - 31,354,651 (+)NCBIUU_Cfam_GSD_1.0
Nlrp14
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494754,715,514 - 54,745,817 (-)NCBIHiC_Itri_2
SpeTri2.0NW_004936841341,505 - 371,728 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NLRP14
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.192,542,538 - 2,550,430 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.293,013,131 - 3,026,295 (-)NCBISscrofa10.2Sscrofa10.2susScr3
NLRP14
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1157,659,342 - 57,793,848 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl157,752,336 - 57,786,254 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666038155,503,131 - 155,539,286 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Nlrp14
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248178,804,529 - 8,832,874 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248178,804,708 - 8,832,251 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in NLRP14
131 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 11p15.4(chr11:3745061-7846057)x3 copy number gain See cases [RCV000053616] Chr11:3745061..7846057 [GRCh38]
Chr11:3766291..7867604 [GRCh37]
Chr11:3722867..7824180 [NCBI36]
Chr11:11p15.4		 pathogenic
GRCh38/hg38 11p15.5-13(chr11:202758-31726224)x3 copy number gain See cases [RCV000053613] Chr11:202758..31726224 [GRCh38]
Chr11:202758..31747772 [GRCh37]
Chr11:192758..31704348 [NCBI36]
Chr11:11p15.5-13		 pathogenic
NM_176822.3(NLRP14):c.721G>A (p.Glu241Lys) single nucleotide variant Malignant melanoma [RCV000069665] Chr11:7042747 [GRCh38]
Chr11:7063978 [GRCh37]
Chr11:7020554 [NCBI36]
Chr11:11p15.4		 not provided
NM_176822.3(NLRP14):c.2017G>A (p.Glu673Lys) single nucleotide variant Malignant melanoma [RCV000069666] Chr11:7046726 [GRCh38]
Chr11:7067957 [GRCh37]
Chr11:7024533 [NCBI36]
Chr11:11p15.4		 not provided
NM_176822.3(NLRP14):c.1507C>T (p.Pro503Ser) single nucleotide variant Malignant melanoma [RCV000062343] Chr11:7043533 [GRCh38]
Chr11:7064764 [GRCh37]
Chr11:7021340 [NCBI36]
Chr11:11p15.4		 not provided
NM_176822.4(NLRP14):c.*55G>C single nucleotide variant not provided [RCV000089600] Chr11:7071363 [GRCh38]
Chr11:7092594 [GRCh37]
Chr11:11p15.4		 not provided
NM_176822.4(NLRP14):c.1282_1283del (p.Cys428fs) microsatellite not provided [RCV000089601] Chr11:7043306..7043307 [GRCh38]
Chr11:7064537..7064538 [GRCh37]
Chr11:11p15.4		 not provided
NM_176822.4(NLRP14):c.1976C>T (p.Thr659Ile) single nucleotide variant not provided [RCV000089602] Chr11:7046685 [GRCh38]
Chr11:7067916 [GRCh37]
Chr11:11p15.4		 not provided
NM_176822.4(NLRP14):c.2027G>C (p.Arg676Thr) single nucleotide variant not provided [RCV000089603] Chr11:7046736 [GRCh38]
Chr11:7067967 [GRCh37]
Chr11:11p15.4		 not provided
NM_176822.4(NLRP14):c.2066C>G (p.Ala689Gly) single nucleotide variant not provided [RCV000089604] Chr11:7046775 [GRCh38]
Chr11:7068006 [GRCh37]
Chr11:11p15.4		 not provided
NM_176822.4(NLRP14):c.2291+112T>A single nucleotide variant not provided [RCV000089605] Chr11:7049950 [GRCh38]
Chr11:7071181 [GRCh37]
Chr11:11p15.4		 not provided
NM_176822.4(NLRP14):c.2633+52T>C single nucleotide variant not provided [RCV000089606] Chr11:7058502 [GRCh38]
Chr11:7079733 [GRCh37]
Chr11:11p15.4		 not provided
NM_176822.4(NLRP14):c.2805-162C>T single nucleotide variant not provided [RCV000089607] Chr11:7062171 [GRCh38]
Chr11:7083402 [GRCh37]
Chr11:11p15.4		 not provided
NM_176822.4(NLRP14):c.289+28G>A single nucleotide variant not provided [RCV000089608] Chr11:7038903 [GRCh38]
Chr11:7060134 [GRCh37]
Chr11:11p15.4		 not provided
NM_176822.4(NLRP14):c.2976-24A>G single nucleotide variant not provided [RCV000089609] Chr11:7070262 [GRCh38]
Chr11:7091493 [GRCh37]
Chr11:11p15.4		 not provided
NM_176822.4(NLRP14):c.3049A>T (p.Ile1017Leu) single nucleotide variant not provided [RCV000089610] Chr11:7070359 [GRCh38]
Chr11:7091590 [GRCh37]
Chr11:11p15.4		 not provided
NM_176822.4(NLRP14):c.3146+24G>C single nucleotide variant not provided [RCV000089611] Chr11:7070480 [GRCh38]
Chr11:7091711 [GRCh37]
Chr11:11p15.4		 not provided
NM_176822.4(NLRP14):c.3147-109T>C single nucleotide variant not provided [RCV000089612] Chr11:7071064 [GRCh38]
Chr11:7092295 [GRCh37]
Chr11:11p15.4		 not provided
NM_176822.4(NLRP14):c.609C>A (p.Gly203=) single nucleotide variant not provided [RCV000089613] Chr11:7042635 [GRCh38]
Chr11:7063866 [GRCh37]
Chr11:11p15.4		 not provided
GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3 copy number gain See cases [RCV000133997] Chr11:446754..18904742 [GRCh38]
Chr11:446754..18926289 [GRCh37]
Chr11:436754..18882865 [NCBI36]
Chr11:11p15.5-15.1		 pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3 copy number gain See cases [RCV000139987] Chr11:61793..10727969 [GRCh38]
Chr11:61793..10749516 [GRCh37]
Chr11:51793..10706092 [NCBI36]
Chr11:11p15.5-15.4		 pathogenic
NM_176822.4(NLRP14):c.322A>T (p.Lys108Ter) single nucleotide variant NLRP14-related condition [RCV003977632]|Spermatogenic Failure [RCV001258284]|not provided [RCV000223971]|not specified [RCV000454907] Chr11:7039746 [GRCh38]
Chr11:7060977 [GRCh37]
Chr11:11p15.4		 benign
GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3 copy number gain See cases [RCV000511561] Chr11:230615..37698540 [GRCh37]
Chr11:11p15.5-12		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NM_014469.5(RBMXL2):c.811G>A (p.Gly271Arg) single nucleotide variant Inborn genetic diseases [RCV003252596] Chr11:7089931 [GRCh38]
Chr11:7111162 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_176822.4(NLRP14):c.1872C>A (p.His624Gln) single nucleotide variant Inborn genetic diseases [RCV003307340] Chr11:7043898 [GRCh38]
Chr11:7065129 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_176822.4(NLRP14):c.415G>T (p.Asp139Tyr) single nucleotide variant Inborn genetic diseases [RCV003259205] Chr11:7042441 [GRCh38]
Chr11:7063672 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014469.5(RBMXL2):c.941A>G (p.Tyr314Cys) single nucleotide variant Inborn genetic diseases [RCV003271924] Chr11:7090061 [GRCh38]
Chr11:7111292 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014469.5(RBMXL2):c.935G>A (p.Arg312Gln) single nucleotide variant Inborn genetic diseases [RCV003273428] Chr11:7090055 [GRCh38]
Chr11:7111286 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014469.5(RBMXL2):c.523G>C (p.Gly175Arg) single nucleotide variant Inborn genetic diseases [RCV003242662] Chr11:7089643 [GRCh38]
Chr11:7110874 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_176822.4(NLRP14):c.454C>T (p.His152Tyr) single nucleotide variant Inborn genetic diseases [RCV003295265] Chr11:7042480 [GRCh38]
Chr11:7063711 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_176822.4(NLRP14):c.107A>T (p.Glu36Val) single nucleotide variant Inborn genetic diseases [RCV003266246] Chr11:7038693 [GRCh38]
Chr11:7059924 [GRCh37]
Chr11:11p15.4		 uncertain significance
GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3 copy number gain See cases [RCV000512225] Chr11:230615..25584362 [GRCh37]
Chr11:11p15.5-14.3		 pathogenic
GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3 copy number gain See cases [RCV000512477] Chr11:230615..31995219 [GRCh37]
Chr11:11p15.5-13		 pathogenic
GRCh37/hg19 11p15.4(chr11:6905914-7062692)x1 copy number loss not provided [RCV000683310] Chr11:6905914..7062692 [GRCh37]
Chr11:11p15.4		 uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:230615-9704511)x3 copy number gain not provided [RCV000683369] Chr11:230615..9704511 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
GRCh37/hg19 11p15.4(chr11:6969013-9257231)x3 copy number gain not provided [RCV000683360] Chr11:6969013..9257231 [GRCh37]
Chr11:11p15.4		 pathogenic
GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3 copy number gain not provided [RCV000683372] Chr11:230615..17099213 [GRCh37]
Chr11:11p15.5-15.1		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NM_176822.4(NLRP14):c.2124-244A>T single nucleotide variant not provided [RCV001666009] Chr11:7049427 [GRCh38]
Chr11:7070658 [GRCh37]
Chr11:11p15.4		 benign
NM_176822.4(NLRP14):c.498C>T (p.Phe166=) single nucleotide variant NLRP14-related condition [RCV003976007]|not provided [RCV001691218] Chr11:7042524 [GRCh38]
Chr11:7063755 [GRCh37]
Chr11:11p15.4		 benign
NM_014469.5(RBMXL2):c.-115C>G single nucleotide variant not provided [RCV001708457] Chr11:7089006 [GRCh38]
Chr11:7110237 [GRCh37]
Chr11:11p15.4		 benign
NM_176822.4(NLRP14):c.1294G>T (p.Ala432Ser) single nucleotide variant NLRP14-related condition [RCV003906040]|not provided [RCV000972477] Chr11:7043320 [GRCh38]
Chr11:7064551 [GRCh37]
Chr11:11p15.4		 benign
GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136) copy number gain Silver-Russell syndrome 1 [RCV000767567] Chr11:193146..12643136 [GRCh37]
Chr11:11p15.5-15.3		 pathogenic
NM_176822.4(NLRP14):c.2901C>T (p.Asn967=) single nucleotide variant not provided [RCV000893761] Chr11:7062429 [GRCh38]
Chr11:7083660 [GRCh37]
Chr11:11p15.4		 benign
GRCh37/hg19 11p15.4(chr11:6908898-7058885)x1 copy number loss not provided [RCV000847040] Chr11:6908898..7058885 [GRCh37]
Chr11:11p15.4		 uncertain significance
GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3 copy number gain not provided [RCV001006372] Chr11:235934..33826995 [GRCh37]
Chr11:11p15.5-13		 pathogenic
NM_176822.4(NLRP14):c.1829G>A (p.Cys610Tyr) single nucleotide variant Inborn genetic diseases [RCV003272271] Chr11:7043855 [GRCh38]
Chr11:7065086 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_176822.4(NLRP14):c.362-320T>C single nucleotide variant not provided [RCV001680772] Chr11:7042068 [GRCh38]
Chr11:7063299 [GRCh37]
Chr11:11p15.4		 benign
NM_176822.4(NLRP14):c.275A>G (p.Lys92Arg) single nucleotide variant NLRP14-related condition [RCV003980840]|not provided [RCV001645115] Chr11:7038861 [GRCh38]
Chr11:7060092 [GRCh37]
Chr11:11p15.4		 benign
NM_176822.4(NLRP14):c.2292-104A>C single nucleotide variant not provided [RCV001659582] Chr11:7057573 [GRCh38]
Chr11:7078804 [GRCh37]
Chr11:11p15.4		 benign
NM_176822.4(NLRP14):c.2124-36G>A single nucleotide variant not provided [RCV001651652] Chr11:7049635 [GRCh38]
Chr11:7070866 [GRCh37]
Chr11:11p15.4		 benign
NM_176822.4(NLRP14):c.143A>C (p.Asn48Thr) single nucleotide variant NLRP14-related condition [RCV003966258]|not provided [RCV001621411] Chr11:7038729 [GRCh38]
Chr11:7059960 [GRCh37]
Chr11:11p15.4		 benign
NC_000011.10:g.7088691_7088693dup duplication not provided [RCV001656280] Chr11:7088689..7088690 [GRCh38]
Chr11:7109920..7109921 [GRCh37]
Chr11:11p15.4		 benign
NM_176822.4(NLRP14):c.1014T>C (p.Tyr338=) single nucleotide variant NLRP14-related condition [RCV003915924]|not provided [RCV000956904] Chr11:7043040 [GRCh38]
Chr11:7064271 [GRCh37]
Chr11:11p15.4		 benign
NM_176822.4(NLRP14):c.2124-272T>C single nucleotide variant not provided [RCV001693631] Chr11:7049399 [GRCh38]
Chr11:7070630 [GRCh37]
Chr11:11p15.4		 benign
NM_176822.4(NLRP14):c.362-322A>G single nucleotide variant not provided [RCV001674971] Chr11:7042066 [GRCh38]
Chr11:7063297 [GRCh37]
Chr11:11p15.4		 benign
NM_176822.4(NLRP14):c.289+262_289+275del deletion not provided [RCV001618147] Chr11:7039129..7039142 [GRCh38]
Chr11:7060360..7060373 [GRCh37]
Chr11:11p15.4		 benign
NM_176822.4(NLRP14):c.2805-305A>G single nucleotide variant not provided [RCV001536671] Chr11:7062028 [GRCh38]
Chr11:7083259 [GRCh37]
Chr11:11p15.4		 benign
NM_176822.4(NLRP14):c.3028C>T (p.Leu1010Phe) single nucleotide variant NLRP14-related condition [RCV003980744]|not provided [RCV001597946] Chr11:7070338 [GRCh38]
Chr11:7091569 [GRCh37]
Chr11:11p15.4		 benign
NC_000011.10:g.7088922T>C single nucleotide variant not provided [RCV001658733] Chr11:7088922 [GRCh38]
Chr11:7110153 [GRCh37]
Chr11:11p15.4		 benign
NM_176822.4(NLRP14):c.3146+85C>A single nucleotide variant not provided [RCV001686589] Chr11:7070541 [GRCh38]
Chr11:7091772 [GRCh37]
Chr11:11p15.4		 benign
NM_176822.4(NLRP14):c.1959-198G>T single nucleotide variant not provided [RCV001710304] Chr11:7046470 [GRCh38]
Chr11:7067701 [GRCh37]
Chr11:11p15.4		 benign
NM_176822.4(NLRP14):c.2253G>A (p.Glu751=) single nucleotide variant NLRP14-related condition [RCV003980756]|not provided [RCV001608532] Chr11:7049800 [GRCh38]
Chr11:7071031 [GRCh37]
Chr11:11p15.4		 benign
NM_176822.4(NLRP14):c.2422G>A (p.Glu808Lys) single nucleotide variant NLRP14-related condition [RCV003975929]|not provided [RCV001679761] Chr11:7057807 [GRCh38]
Chr11:7079038 [GRCh37]
Chr11:11p15.4		 benign
NM_176822.4(NLRP14):c.1958+74C>A single nucleotide variant not provided [RCV001681784] Chr11:7044058 [GRCh38]
Chr11:7065289 [GRCh37]
Chr11:11p15.4		 benign
NM_176822.4(NLRP14):c.2462+183A>G single nucleotide variant not provided [RCV001616705] Chr11:7058030 [GRCh38]
Chr11:7079261 [GRCh37]
Chr11:11p15.4		 benign
NM_176822.4(NLRP14):c.289+131del deletion not provided [RCV001695106] Chr11:7039006 [GRCh38]
Chr11:7060237 [GRCh37]
Chr11:11p15.4		 benign
NM_176822.4(NLRP14):c.361+46T>G single nucleotide variant not provided [RCV001684670] Chr11:7039831 [GRCh38]
Chr11:7061062 [GRCh37]
Chr11:11p15.4		 benign
NM_176822.4(NLRP14):c.2463-172C>T single nucleotide variant not provided [RCV001666007] Chr11:7058108 [GRCh38]
Chr11:7079339 [GRCh37]
Chr11:11p15.4		 benign
NM_176822.4(NLRP14):c.2804+125_2804+128del deletion not provided [RCV001643962] Chr11:7060189..7060192 [GRCh38]
Chr11:7081420..7081423 [GRCh37]
Chr11:11p15.4		 benign
NM_014469.5(RBMXL2):c.-109G>C single nucleotide variant not provided [RCV001708426] Chr11:7089012 [GRCh38]
Chr11:7110243 [GRCh37]
Chr11:11p15.4		 benign
NM_176822.4(NLRP14):c.2634-254T>G single nucleotide variant not provided [RCV001641242] Chr11:7059640 [GRCh38]
Chr11:7080871 [GRCh37]
Chr11:11p15.4		 benign
NM_176822.4(NLRP14):c.164G>A (p.Arg55Gln) single nucleotide variant NLRP14-related condition [RCV003984024]|not provided [RCV001649240] Chr11:7038750 [GRCh38]
Chr11:7059981 [GRCh37]
Chr11:11p15.4		 benign
NC_000011.10:g.7071602A>G single nucleotide variant not provided [RCV001667442] Chr11:7071602 [GRCh38]
Chr11:7092833 [GRCh37]
Chr11:11p15.4		 benign
NM_176822.4(NLRP14):c.2976-160A>C single nucleotide variant not provided [RCV001708884] Chr11:7070126 [GRCh38]
Chr11:7091357 [GRCh37]
Chr11:11p15.4		 benign
NM_176822.4(NLRP14):c.2123+105C>T single nucleotide variant not provided [RCV001648172] Chr11:7046937 [GRCh38]
Chr11:7068168 [GRCh37]
Chr11:11p15.4		 benign
NM_176822.4(NLRP14):c.290-275A>T single nucleotide variant not provided [RCV001609121] Chr11:7039439 [GRCh38]
Chr11:7060670 [GRCh37]
Chr11:11p15.4		 benign
NM_176822.4(NLRP14):c.257A>T (p.Asp86Val) single nucleotide variant Spermatogenic Failure [RCV001258265] Chr11:7038843 [GRCh38]
Chr11:7060074 [GRCh37]
Chr11:11p15.4		 benign
GRCh37/hg19 11p15.5-15.4(chr11:210300-8664358)x3 copy number gain Silver-Russell syndrome 1 [RCV001263222] Chr11:210300..8664358 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
NM_176822.4(NLRP14):c.-21-48T>A single nucleotide variant not provided [RCV001612647] Chr11:7038518 [GRCh38]
Chr11:7059749 [GRCh37]
Chr11:11p15.4		 benign
NM_176822.4(NLRP14):c.1200T>C (p.Phe400=) single nucleotide variant not provided [RCV001692908] Chr11:7043226 [GRCh38]
Chr11:7064457 [GRCh37]
Chr11:11p15.4		 benign
NM_176822.4(NLRP14):c.2124-179G>T single nucleotide variant not provided [RCV001695908] Chr11:7049492 [GRCh38]
Chr11:7070723 [GRCh37]
Chr11:11p15.4		 benign
NM_176822.4(NLRP14):c.2976-111A>C single nucleotide variant not provided [RCV001686097] Chr11:7070175 [GRCh38]
Chr11:7091406 [GRCh37]
Chr11:11p15.4		 benign
GRCh37/hg19 11p15.4(chr11:6502523-7248333)x3 copy number gain not provided [RCV001836564] Chr11:6502523..7248333 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014469.5(RBMXL2):c.400A>G (p.Thr134Ala) single nucleotide variant not provided [RCV001670536] Chr11:7089520 [GRCh38]
Chr11:7110751 [GRCh37]
Chr11:11p15.4		 benign
NM_014469.5(RBMXL2):c.12G>A (p.Ala4=) single nucleotide variant not provided [RCV001707196] Chr11:7089132 [GRCh38]
Chr11:7110363 [GRCh37]
Chr11:11p15.4		 benign
NM_014469.5(RBMXL2):c.197C>T (p.Ala66Val) single nucleotide variant not provided [RCV001636043] Chr11:7089317 [GRCh38]
Chr11:7110548 [GRCh37]
Chr11:11p15.4		 benign
GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3 copy number gain See cases [RCV002286351] Chr11:230615..26881146 [GRCh37]
Chr11:11p15.5-14.2		 pathogenic
NM_176822.4(NLRP14):c.3095T>G (p.Val1032Gly) single nucleotide variant Inborn genetic diseases [RCV003257936] Chr11:7070405 [GRCh38]
Chr11:7091636 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_176822.4(NLRP14):c.2047A>G (p.Ser683Gly) single nucleotide variant Inborn genetic diseases [RCV003260972] Chr11:7046756 [GRCh38]
Chr11:7067987 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_176822.4(NLRP14):c.2771T>C (p.Phe924Ser) single nucleotide variant Inborn genetic diseases [RCV003303997] Chr11:7060031 [GRCh38]
Chr11:7081262 [GRCh37]
Chr11:11p15.4		 uncertain significance
GRCh37/hg19 11p15.4(chr11:6943254-7051084)x3 copy number gain not provided [RCV002474648] Chr11:6943254..7051084 [GRCh37]
Chr11:11p15.4		 uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:230616-8250724)x3 copy number gain not provided [RCV002472435] Chr11:230616..8250724 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
NM_014469.5(RBMXL2):c.1052C>G (p.Ser351Cys) single nucleotide variant Inborn genetic diseases [RCV002945745] Chr11:7090172 [GRCh38]
Chr11:7111403 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_176822.4(NLRP14):c.1679T>C (p.Leu560Ser) single nucleotide variant Inborn genetic diseases [RCV002727358] Chr11:7043705 [GRCh38]
Chr11:7064936 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_176822.4(NLRP14):c.288C>G (p.Asn96Lys) single nucleotide variant Inborn genetic diseases [RCV002993342] Chr11:7038874 [GRCh38]
Chr11:7060105 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_176822.4(NLRP14):c.1843T>G (p.Leu615Val) single nucleotide variant Inborn genetic diseases [RCV002991039] Chr11:7043869 [GRCh38]
Chr11:7065100 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_176822.4(NLRP14):c.1364C>T (p.Ser455Phe) single nucleotide variant Inborn genetic diseases [RCV002687343] Chr11:7043390 [GRCh38]
Chr11:7064621 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014469.5(RBMXL2):c.677G>A (p.Arg226His) single nucleotide variant Inborn genetic diseases [RCV002841259] Chr11:7089797 [GRCh38]
Chr11:7111028 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_176822.4(NLRP14):c.2285C>G (p.Thr762Ser) single nucleotide variant Inborn genetic diseases [RCV002841702] Chr11:7049832 [GRCh38]
Chr11:7071063 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_176822.4(NLRP14):c.2097C>A (p.His699Gln) single nucleotide variant Inborn genetic diseases [RCV002734190] Chr11:7046806 [GRCh38]
Chr11:7068037 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014469.5(RBMXL2):c.610G>A (p.Asp204Asn) single nucleotide variant Inborn genetic diseases [RCV002734170] Chr11:7089730 [GRCh38]
Chr11:7110961 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014469.5(RBMXL2):c.283G>T (p.Gly95Cys) single nucleotide variant Inborn genetic diseases [RCV002778764] Chr11:7089403 [GRCh38]
Chr11:7110634 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_176822.4(NLRP14):c.697A>T (p.Ile233Leu) single nucleotide variant Inborn genetic diseases [RCV002974356] Chr11:7042723 [GRCh38]
Chr11:7063954 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_176822.4(NLRP14):c.343G>C (p.Asp115His) single nucleotide variant Inborn genetic diseases [RCV002883120] Chr11:7039767 [GRCh38]
Chr11:7060998 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_176822.4(NLRP14):c.1634A>G (p.Glu545Gly) single nucleotide variant Inborn genetic diseases [RCV002849249] Chr11:7043660 [GRCh38]
Chr11:7064891 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014469.5(RBMXL2):c.494C>T (p.Ala165Val) single nucleotide variant Inborn genetic diseases [RCV002822553] Chr11:7089614 [GRCh38]
Chr11:7110845 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_176822.4(NLRP14):c.1337A>G (p.Asn446Ser) single nucleotide variant Inborn genetic diseases [RCV003001082] Chr11:7043363 [GRCh38]
Chr11:7064594 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_176822.4(NLRP14):c.744G>T (p.Met248Ile) single nucleotide variant Inborn genetic diseases [RCV002887827] Chr11:7042770 [GRCh38]
Chr11:7064001 [GRCh37]
Chr11:11p15.4		 likely benign
NM_176822.4(NLRP14):c.1885C>T (p.Arg629Trp) single nucleotide variant Inborn genetic diseases [RCV002951375] Chr11:7043911 [GRCh38]
Chr11:7065142 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_176822.4(NLRP14):c.1553C>T (p.Thr518Ile) single nucleotide variant Inborn genetic diseases [RCV002691679] Chr11:7043579 [GRCh38]
Chr11:7064810 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_176822.4(NLRP14):c.10T>A (p.Ser4Thr) single nucleotide variant Inborn genetic diseases [RCV002951699] Chr11:7038596 [GRCh38]
Chr11:7059827 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014469.5(RBMXL2):c.419G>A (p.Arg140Gln) single nucleotide variant Inborn genetic diseases [RCV002797633] Chr11:7089539 [GRCh38]
Chr11:7110770 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014469.5(RBMXL2):c.226G>A (p.Gly76Ser) single nucleotide variant Inborn genetic diseases [RCV002704162] Chr11:7089346 [GRCh38]
Chr11:7110577 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_176822.4(NLRP14):c.1877G>A (p.Arg626Gln) single nucleotide variant Inborn genetic diseases [RCV002997997] Chr11:7043903 [GRCh38]
Chr11:7065134 [GRCh37]
Chr11:11p15.4		 likely benign
NM_176822.4(NLRP14):c.3160G>C (p.Ala1054Pro) single nucleotide variant Inborn genetic diseases [RCV002925621] Chr11:7071186 [GRCh38]
Chr11:7092417 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014469.5(RBMXL2):c.370C>G (p.Arg124Gly) single nucleotide variant Inborn genetic diseases [RCV002644733] Chr11:7089490 [GRCh38]
Chr11:7110721 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_176822.4(NLRP14):c.169G>A (p.Asp57Asn) single nucleotide variant Inborn genetic diseases [RCV002641450] Chr11:7038755 [GRCh38]
Chr11:7059986 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_176822.4(NLRP14):c.452A>G (p.His151Arg) single nucleotide variant Inborn genetic diseases [RCV002931592] Chr11:7042478 [GRCh38]
Chr11:7063709 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_176822.4(NLRP14):c.524A>G (p.Gln175Arg) single nucleotide variant Inborn genetic diseases [RCV002893147] Chr11:7042550 [GRCh38]
Chr11:7063781 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014469.5(RBMXL2):c.1049T>C (p.Leu350Pro) single nucleotide variant Inborn genetic diseases [RCV002802968] Chr11:7090169 [GRCh38]
Chr11:7111400 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014469.5(RBMXL2):c.11C>G (p.Ala4Gly) single nucleotide variant Inborn genetic diseases [RCV002956661] Chr11:7089131 [GRCh38]
Chr11:7110362 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_176822.4(NLRP14):c.148G>T (p.Val50Leu) single nucleotide variant Inborn genetic diseases [RCV002665549] Chr11:7038734 [GRCh38]
Chr11:7059965 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_176822.4(NLRP14):c.811C>A (p.Pro271Thr) single nucleotide variant Inborn genetic diseases [RCV002698578] Chr11:7042837 [GRCh38]
Chr11:7064068 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_176822.4(NLRP14):c.569C>A (p.Thr190Lys) single nucleotide variant Inborn genetic diseases [RCV002803124] Chr11:7042595 [GRCh38]
Chr11:7063826 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_176822.4(NLRP14):c.2642G>A (p.Arg881His) single nucleotide variant Inborn genetic diseases [RCV002964338] Chr11:7059902 [GRCh38]
Chr11:7081133 [GRCh37]
Chr11:11p15.4		 likely benign
NM_014469.5(RBMXL2):c.533G>A (p.Arg178His) single nucleotide variant Inborn genetic diseases [RCV002807979] Chr11:7089653 [GRCh38]
Chr11:7110884 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_176822.4(NLRP14):c.2075T>A (p.Ile692Asn) single nucleotide variant Inborn genetic diseases [RCV002964544] Chr11:7046784 [GRCh38]
Chr11:7068015 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_176822.4(NLRP14):c.1760A>G (p.Tyr587Cys) single nucleotide variant Inborn genetic diseases [RCV002936759] Chr11:7043786 [GRCh38]
Chr11:7065017 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014469.5(RBMXL2):c.665G>C (p.Ser222Thr) single nucleotide variant Inborn genetic diseases [RCV002719478] Chr11:7089785 [GRCh38]
Chr11:7111016 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_176822.4(NLRP14):c.2265C>A (p.His755Gln) single nucleotide variant Inborn genetic diseases [RCV002854914] Chr11:7049812 [GRCh38]
Chr11:7071043 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_176822.4(NLRP14):c.461T>C (p.Ile154Thr) single nucleotide variant Inborn genetic diseases [RCV002855724] Chr11:7042487 [GRCh38]
Chr11:7063718 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_176822.4(NLRP14):c.517G>A (p.Gly173Ser) single nucleotide variant Inborn genetic diseases [RCV002675154] Chr11:7042543 [GRCh38]
Chr11:7063774 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014469.5(RBMXL2):c.383A>T (p.Asp128Val) single nucleotide variant Inborn genetic diseases [RCV002831677] Chr11:7089503 [GRCh38]
Chr11:7110734 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014469.5(RBMXL2):c.1151A>G (p.Glu384Gly) single nucleotide variant Inborn genetic diseases [RCV002673731] Chr11:7090271 [GRCh38]
Chr11:7111502 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_176822.4(NLRP14):c.482T>C (p.Leu161Pro) single nucleotide variant Inborn genetic diseases [RCV002703475] Chr11:7042508 [GRCh38]
Chr11:7063739 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_176822.4(NLRP14):c.1793C>G (p.Ala598Gly) single nucleotide variant Inborn genetic diseases [RCV002672886] Chr11:7043819 [GRCh38]
Chr11:7065050 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014469.5(RBMXL2):c.299G>C (p.Arg100Pro) single nucleotide variant Inborn genetic diseases [RCV002717571] Chr11:7089419 [GRCh38]
Chr11:7110650 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_176822.4(NLRP14):c.1471T>C (p.Phe491Leu) single nucleotide variant Inborn genetic diseases [RCV002792685] Chr11:7043497 [GRCh38]
Chr11:7064728 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014469.5(RBMXL2):c.580C>A (p.Pro194Thr) single nucleotide variant Inborn genetic diseases [RCV003184004] Chr11:7089700 [GRCh38]
Chr11:7110931 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_176822.4(NLRP14):c.155A>G (p.Lys52Arg) single nucleotide variant Inborn genetic diseases [RCV003214871] Chr11:7038741 [GRCh38]
Chr11:7059972 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014469.5(RBMXL2):c.1055T>A (p.Leu352Gln) single nucleotide variant Inborn genetic diseases [RCV003193278] Chr11:7090175 [GRCh38]
Chr11:7111406 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_176822.4(NLRP14):c.1059C>G (p.Phe353Leu) single nucleotide variant Inborn genetic diseases [RCV003204506] Chr11:7043085 [GRCh38]
Chr11:7064316 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_176822.4(NLRP14):c.526C>T (p.Pro176Ser) single nucleotide variant Inborn genetic diseases [RCV003303813] Chr11:7042552 [GRCh38]
Chr11:7063783 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014469.5(RBMXL2):c.686G>A (p.Arg229Gln) single nucleotide variant Inborn genetic diseases [RCV003205640] Chr11:7089806 [GRCh38]
Chr11:7111037 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_176822.4(NLRP14):c.784G>A (p.Asp262Asn) single nucleotide variant Inborn genetic diseases [RCV003191011] Chr11:7042810 [GRCh38]
Chr11:7064041 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_176822.4(NLRP14):c.2690T>C (p.Leu897Pro) single nucleotide variant Inborn genetic diseases [RCV003189221] Chr11:7059950 [GRCh38]
Chr11:7081181 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_176822.4(NLRP14):c.2888A>G (p.Asp963Gly) single nucleotide variant Inborn genetic diseases [RCV003381553] Chr11:7062416 [GRCh38]
Chr11:7083647 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_014469.5(RBMXL2):c.493G>A (p.Ala165Thr) single nucleotide variant Inborn genetic diseases [RCV003352084] Chr11:7089613 [GRCh38]
Chr11:7110844 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_176822.4(NLRP14):c.901G>C (p.Ala301Pro) single nucleotide variant Inborn genetic diseases [RCV003352539] Chr11:7042927 [GRCh38]
Chr11:7064158 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_176822.4(NLRP14):c.1636A>G (p.Arg546Gly) single nucleotide variant Inborn genetic diseases [RCV003346911] Chr11:7043662 [GRCh38]
Chr11:7064893 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_176822.4(NLRP14):c.381A>C (p.Arg127Ser) single nucleotide variant Inborn genetic diseases [RCV003369616] Chr11:7042407 [GRCh38]
Chr11:7063638 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_176822.4(NLRP14):c.2607T>G (p.His869Gln) single nucleotide variant Inborn genetic diseases [RCV003352157] Chr11:7058424 [GRCh38]
Chr11:7079655 [GRCh37]
Chr11:11p15.4		 uncertain significance
GRCh37/hg19 11p15.4(chr11:6801941-7136661)x3 copy number gain not provided [RCV003484831] Chr11:6801941..7136661 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_176822.4(NLRP14):c.3018C>A (p.Leu1006=) single nucleotide variant not provided [RCV003397907] Chr11:7070328 [GRCh38]
Chr11:7091559 [GRCh37]
Chr11:11p15.4		 likely benign
GRCh37/hg19 11p15.5-15.4(chr11:230615-8821443)x3 copy number gain Russell-Silver syndrome [RCV003444025] Chr11:230615..8821443 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
NM_176822.4(NLRP14):c.535G>A (p.Val179Met) single nucleotide variant not provided [RCV003397906] Chr11:7042561 [GRCh38]
Chr11:7063792 [GRCh37]
Chr11:11p15.4		 benign
NM_176822.4(NLRP14):c.1452G>A (p.Gln484=) single nucleotide variant NLRP14-related condition [RCV003939518] Chr11:7043478 [GRCh38]
Chr11:7064709 [GRCh37]
Chr11:11p15.4		 likely benign
NM_176822.4(NLRP14):c.725G>A (p.Gly242Asp) single nucleotide variant NLRP14-related condition [RCV003939644] Chr11:7042751 [GRCh38]
Chr11:7063982 [GRCh37]
Chr11:11p15.4		 benign
NM_176822.4(NLRP14):c.1296C>A (p.Ala432=) single nucleotide variant NLRP14-related condition [RCV003954953] Chr11:7043322 [GRCh38]
Chr11:7064553 [GRCh37]
Chr11:11p15.4		 benign
NM_176822.4(NLRP14):c.2249G>A (p.Cys750Tyr) single nucleotide variant NLRP14-related condition [RCV003919496] Chr11:7049796 [GRCh38]
Chr11:7071027 [GRCh37]
Chr11:11p15.4		 likely benign
NM_176822.4(NLRP14):c.8A>G (p.Asp3Gly) single nucleotide variant NLRP14-related condition [RCV003963868] Chr11:7038594 [GRCh38]
Chr11:7059825 [GRCh37]
Chr11:11p15.4		 benign
NM_176822.4(NLRP14):c.2851T>A (p.Ser951Thr) single nucleotide variant NLRP14-related condition [RCV003982387] Chr11:7062379 [GRCh38]
Chr11:7083610 [GRCh37]
Chr11:11p15.4		 benign
NM_176822.4(NLRP14):c.1190C>T (p.Thr397Ile) single nucleotide variant NLRP14-related condition [RCV003931389] Chr11:7043216 [GRCh38]
Chr11:7064447 [GRCh37]
Chr11:11p15.4		 likely benign
NM_176822.4(NLRP14):c.36T>C (p.Asp12=) single nucleotide variant NLRP14-related condition [RCV003919577] Chr11:7038622 [GRCh38]
Chr11:7059853 [GRCh37]
Chr11:11p15.4		 likely benign
NM_176822.4(NLRP14):c.152A>G (p.Lys51Arg) single nucleotide variant NLRP14-related condition [RCV003964370] Chr11:7038738 [GRCh38]
Chr11:7059969 [GRCh37]
Chr11:11p15.4		 benign
NM_176822.4(NLRP14):c.1958+6T>C single nucleotide variant NLRP14-related condition [RCV003929635] Chr11:7043990 [GRCh38]
Chr11:7065221 [GRCh37]
Chr11:11p15.4		 likely benign
NM_176822.4(NLRP14):c.3057G>A (p.Met1019Ile) single nucleotide variant NLRP14-related condition [RCV003929706] Chr11:7070367 [GRCh38]
Chr11:7091598 [GRCh37]
Chr11:11p15.4		 benign
NM_176822.4(NLRP14):c.1321G>A (p.Val441Met) single nucleotide variant NLRP14-related condition [RCV003894733] Chr11:7043347 [GRCh38]
Chr11:7064578 [GRCh37]
Chr11:11p15.4		 likely benign
NM_176822.4(NLRP14):c.61G>A (p.Glu21Lys) single nucleotide variant NLRP14-related condition [RCV003971513] Chr11:7038647 [GRCh38]
Chr11:7059878 [GRCh37]
Chr11:11p15.4		 likely benign
NM_176822.4(NLRP14):c.48A>G (p.Leu16=) single nucleotide variant NLRP14-related condition [RCV003944385] Chr11:7038634 [GRCh38]
Chr11:7059865 [GRCh37]
Chr11:11p15.4		 benign
NM_176822.4(NLRP14):c.1382T>C (p.Met461Thr) single nucleotide variant NLRP14-related condition [RCV003957413] Chr11:7043408 [GRCh38]
Chr11:7064639 [GRCh37]
Chr11:11p15.4		 likely benign
NM_176822.4(NLRP14):c.573C>T (p.Thr191=) single nucleotide variant NLRP14-related condition [RCV003979585] Chr11:7042599 [GRCh38]
Chr11:7063830 [GRCh37]
Chr11:11p15.4		 likely benign
NM_176822.4(NLRP14):c.293C>T (p.Ser98Leu) single nucleotide variant NLRP14-related condition [RCV003979786] Chr11:7039717 [GRCh38]
Chr11:7060948 [GRCh37]
Chr11:11p15.4		 benign
NM_176822.4(NLRP14):c.2861T>C (p.Leu954Ser) single nucleotide variant NLRP14-related condition [RCV003979844] Chr11:7062389 [GRCh38]
Chr11:7083620 [GRCh37]
Chr11:11p15.4		 benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:92
Count of miRNA genes:91
Interacting mature miRNAs:91
Transcripts:ENST00000299481
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

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

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

Markers in Region
NALP14__6210  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37117,092,410 - 7,092,945UniSTSGRCh37
Build 36117,048,986 - 7,049,521RGDNCBI36
Celera117,211,456 - 7,211,991RGD
HuRef116,750,880 - 6,751,415UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 1 2 1
Low 19 2 53 27 149 26 155 9 220 78 427 92 1 1 142
Below cutoff 1595 1589 1410 500 930 346 2528 930 3164 263 817 1285 158 791 1555 2

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000299481   ⟹   ENSP00000299481
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl117,020,479 - 7,071,526 (+)Ensembl
RefSeq Acc Id: NM_176822   ⟹   NP_789792
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38117,020,479 - 7,071,526 (+)NCBI
GRCh37117,041,700 - 7,092,757 (+)RGD
Build 36116,998,276 - 7,049,333 (+)NCBI Archive
Celera117,160,740 - 7,211,803 (+)RGD
HuRef116,700,195 - 6,751,227 (+)RGD
CHM1_1117,040,627 - 7,091,687 (+)NCBI
T2T-CHM13v2.0117,078,857 - 7,129,909 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011520044   ⟹   XP_011518346
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38117,020,446 - 7,090,900 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047426867   ⟹   XP_047282823
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38117,020,485 - 7,072,058 (+)NCBI
RefSeq Acc Id: XM_054368619   ⟹   XP_054224594
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0117,078,824 - 7,149,635 (+)NCBI
RefSeq Acc Id: XM_054368620   ⟹   XP_054224595
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0117,078,863 - 7,136,327 (+)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_789792   ⟸   NM_176822
- UniProtKB: Q7RTR6 (UniProtKB/Swiss-Prot),   Q86W24 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011518346   ⟸   XM_011520044
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000299481   ⟸   ENST00000299481
RefSeq Acc Id: XP_047282823   ⟸   XM_047426867
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054224594   ⟸   XM_054368619
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054224595   ⟸   XM_054368620
- Peptide Label: isoform X3
Protein Domains
NACHT   Pyrin

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q86W24-F1-model_v2 AlphaFold Q86W24 1-1093 view protein structure

Promoters
RGD ID:6789609
Promoter ID:HG_KWN:12234
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:NM_013249,   NM_176822,   UC009YFH.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36116,997,894 - 6,998,394 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:22939 AgrOrtholog
COSMIC NLRP14 COSMIC
Ensembl Genes ENSG00000158077 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000299481 ENTREZGENE
  ENST00000299481.5 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.533.10 UniProtKB/Swiss-Prot
  3.40.50.300 UniProtKB/Swiss-Prot
  3.80.10.10 UniProtKB/Swiss-Prot
GTEx ENSG00000158077 GTEx
HGNC ID HGNC:22939 ENTREZGENE
Human Proteome Map NLRP14 Human Proteome Map
InterPro DAPIN UniProtKB/Swiss-Prot
  DEATH-like_dom_sf UniProtKB/Swiss-Prot
  Leu-rich_rpt UniProtKB/Swiss-Prot
  LRR_dom_sf UniProtKB/Swiss-Prot
  NACHT_NTPase UniProtKB/Swiss-Prot
  NLRC_HD2 UniProtKB/Swiss-Prot
  NOD2_WH UniProtKB/Swiss-Prot
  P-loop_NTPase UniProtKB/Swiss-Prot
KEGG Report hsa:338323 UniProtKB/Swiss-Prot
NCBI Gene 338323 ENTREZGENE
OMIM 609665 OMIM
PANTHER NACHT, LRR AND PYD DOMAINS-CONTAINING PROTEIN 12 UniProtKB/Swiss-Prot
  NACHT, LRR AND PYD DOMAINS-CONTAINING PROTEIN 14 UniProtKB/Swiss-Prot
Pfam LRR_6 UniProtKB/Swiss-Prot
  NACHT UniProtKB/Swiss-Prot
  NLRC4_HD2 UniProtKB/Swiss-Prot
  NOD2_WH UniProtKB/Swiss-Prot
  PYRIN UniProtKB/Swiss-Prot
PharmGKB PA162397917 PharmGKB
PROSITE DAPIN UniProtKB/Swiss-Prot
  NACHT UniProtKB/Swiss-Prot
SMART LRR_RI UniProtKB/Swiss-Prot
  PYRIN UniProtKB/Swiss-Prot
Superfamily-SCOP RNI-like UniProtKB/Swiss-Prot
  SSF47986 UniProtKB/Swiss-Prot
  SSF52540 UniProtKB/Swiss-Prot
UniProt NAL14_HUMAN UniProtKB/Swiss-Prot
  Q7RTR6 ENTREZGENE
  Q86W24 ENTREZGENE
UniProt Secondary Q7RTR6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-06-07 NLRP14  NLR family pyrin domain containing 14  NLRP14  NLR family, pyrin domain containing 14  Symbol and/or name change 5135510 APPROVED