NALF1 (NALCN channel auxiliary factor 1) - Rat Genome Database

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Gene: NALF1 (NALCN channel auxiliary factor 1) Homo sapiens
Analyze
Symbol: NALF1
Name: NALCN channel auxiliary factor 1
RGD ID: 2293495
HGNC Page HGNC:33877
Description: Predicted to contribute to stretch-activated, monoatomic cation-selective, calcium channel activity. Predicted to be involved in calcium ion import across plasma membrane. Located in plasma membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: FAM155A; family with sequence similarity 155 member A; family with sequence similarity 155, member A; NLF-1; NLF1; transmembrane protein FAM155A
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
GRCh3813107,163,510 - 107,867,496 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl13107,163,510 - 107,867,496 (-)Ensemblhg38GRCh38
GRCh3713107,815,858 - 108,519,844 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3613106,618,880 - 107,317,084 (-)NCBIBuild 36Build 36hg18NCBI36
Celera1388,665,078 - 89,363,877 (-)NCBICelera
Cytogenetic Map13q33.3NCBI
HuRef1388,412,090 - 89,109,979 (-)NCBIHuRef
CHM1_113107,789,293 - 108,488,213 (-)NCBICHM1_1
T2T-CHM13v2.013106,389,828 - 107,093,540 (-)NCBIT2T-CHM13v2.0
JBrowse:




Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
membrane  (IEA)
plasma membrane  (IBA,IDA,IEA)

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8325628   PMID:8889549   PMID:12477932   PMID:16344560   PMID:18951430   PMID:20379614   PMID:20800221   PMID:21079607   PMID:21873635   PMID:23251661   PMID:23453885   PMID:23509962  
PMID:23738518   PMID:23934736   PMID:24639627   PMID:25208829   PMID:28585551   PMID:29885519   PMID:32015353   PMID:32494638   PMID:32698188   PMID:33203861   PMID:33660365  


Genomics

Comparative Map Data
NALF1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3813107,163,510 - 107,867,496 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl13107,163,510 - 107,867,496 (-)Ensemblhg38GRCh38
GRCh3713107,815,858 - 108,519,844 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3613106,618,880 - 107,317,084 (-)NCBIBuild 36Build 36hg18NCBI36
Celera1388,665,078 - 89,363,877 (-)NCBICelera
Cytogenetic Map13q33.3NCBI
HuRef1388,412,090 - 89,109,979 (-)NCBIHuRef
CHM1_113107,789,293 - 108,488,213 (-)NCBICHM1_1
T2T-CHM13v2.013106,389,828 - 107,093,540 (-)NCBIT2T-CHM13v2.0
Nalf1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3989,256,006 - 9,823,329 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl89,255,902 - 9,821,161 (-)EnsemblGRCm39 EnsemblGRCm39
GRCm3889,206,006 - 9,773,329 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl89,205,902 - 9,771,161 (-)Ensemblmm10GRCm38
MGSCv3789,206,010 - 9,771,023 (-)NCBIMGSCv37MGSCv37mm9NCBIm37
MGSCv3689,205,982 - 9,770,995 (-)NCBIMGSCv36mm8
Celera89,378,395 - 9,946,389 (-)NCBICelera
Cytogenetic Map8A1.1NCBI
cM Map83.9NCBI
Nalf1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81686,415,540 - 86,938,150 (+)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl1686,415,488 - 86,938,150 (+)EnsemblGRCr8
mRatBN7.21679,713,577 - 80,236,295 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1679,713,724 - 80,235,120 (+)EnsemblmRatBN7.2
UTH_Rnor_SHR_Utx1684,993,958 - 85,516,527 (+)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01688,446,594 - 88,969,153 (+)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01683,690,061 - 84,212,353 (+)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.01685,528,126 - 86,053,447 (+)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01684,966,856 - 85,487,855 (+)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.41685,100,812 - 85,106,968 (+)NCBIRGSC_v3.4RGSC_v3.4rn4
Celera1677,498,065 - 78,017,222 (+)NCBICelera
Cytogenetic Map16q12.5NCBI
Nalf1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554043,861,460 - 4,441,184 (+)Ensembl
ChiLan1.0NW_0049554043,860,933 - 4,443,068 (+)NCBIChiLan1.0ChiLan1.0
NALF1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v214108,493,364 - 109,353,492 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan113107,338,572 - 108,034,078 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01388,136,013 - 88,995,995 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.113107,441,496 - 108,134,034 (-)NCBIPanPan1.1PanPan1.1panPan2
PanPan1.1 Ensembl13107,443,343 - 108,133,895 (-)EnsemblpanPan2panpan1.1
NALF1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12256,134,925 - 56,757,072 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2256,134,878 - 56,756,612 (-)EnsemblcanFam3CanFam3.1
Dog10K_Boxer_Tasha2255,904,012 - 56,529,559 (-)NCBIDog10K_Boxer_TashaDog10K_Boxer_Tasha
ROS_Cfam_1.02256,651,717 - 57,277,138 (-)NCBIROS_Cfam_1.0ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2256,651,050 - 57,277,119 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12256,251,687 - 56,877,517 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02256,238,481 - 56,863,749 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02256,277,267 - 56,903,858 (-)NCBIUU_Cfam_GSD_1.0UU_Cfam_GSD_1.0
Nalf1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404945191,328,315 - 191,876,216 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364724,076,633 - 4,621,946 (+)EnsemblSpeTri2.0 Ensembl
SpeTri2.0NW_0049364724,075,926 - 4,623,726 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NALF1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1174,743,587 - 75,344,229 (-)EnsemblsusScr11Sscrofa11.1
Sscrofa11.11174,742,319 - 75,344,699 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21182,188,591 - 82,230,906 (-)NCBISscrofa10.2Sscrofa10.2susScr3
NALF1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1385,572,404 - 86,263,309 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366604642,143,803 - 42,916,490 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Nalf1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247933,964,654 - 4,540,949 (+)EnsemblHetGla_female_1.0 EnsemblhetGla2HetGla_female_1.0 Ensembl
HetGla 1.0NW_0046247933,964,136 - 4,542,192 (+)NCBIHetGla 1.0HetGla 1.0hetGla2

Variants

.
Variants in NALF1
81 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 13q33.2-34(chr13:104461586-114327173)x1 copy number loss See cases [RCV000051448] Chr13:104461586..114327173 [GRCh38]
Chr13:105113936..115085141 [GRCh37]
Chr13:103911937..114110750 [NCBI36]
Chr13:13q33.2-34		 pathogenic
GRCh38/hg38 13q33.2-34(chr13:104698508-114327173)x1 copy number loss See cases [RCV000051449] Chr13:104698508..114327173 [GRCh38]
Chr13:105350859..115085141 [GRCh37]
Chr13:104148860..114110750 [NCBI36]
Chr13:13q33.2-34		 pathogenic
GRCh38/hg38 13q33.2-34(chr13:105571072-114327314)x1 copy number loss See cases [RCV000051450] Chr13:105571072..114327314 [GRCh38]
Chr13:106223421..115085141 [GRCh37]
Chr13:105021422..114110891 [NCBI36]
Chr13:13q33.2-34		 pathogenic
GRCh38/hg38 13q33.2-34(chr13:106043720-110366226)x1 copy number loss See cases [RCV000051451] Chr13:106043720..110366226 [GRCh38]
Chr13:106696069..111018573 [GRCh37]
Chr13:105494070..109816574 [NCBI36]
Chr13:13q33.2-34		 pathogenic
GRCh38/hg38 13q33.3-34(chr13:107168805-114327314)x1 copy number loss See cases [RCV000051452] Chr13:107168805..114327314 [GRCh38]
Chr13:107821153..115085141 [GRCh37]
Chr13:106619154..114110891 [NCBI36]
Chr13:13q33.3-34		 pathogenic
GRCh38/hg38 13q31.1-34(chr13:82581008-114327173)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051380]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051380]|See cases [RCV000051380] Chr13:82581008..114327173 [GRCh38]
Chr13:83155143..115085141 [GRCh37]
Chr13:82053144..114110750 [NCBI36]
Chr13:13q31.1-34		 pathogenic
GRCh38/hg38 13q31.3-34(chr13:91366227-114327314)x1 copy number loss See cases [RCV000051418] Chr13:91366227..114327314 [GRCh38]
Chr13:92018481..115085141 [GRCh37]
Chr13:90816482..114110891 [NCBI36]
Chr13:13q31.3-34		 pathogenic
GRCh38/hg38 13q32.3-34(chr13:101049614-114327314)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051421]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051421]|See cases [RCV000051421] Chr13:101049614..114327314 [GRCh38]
Chr13:101587036..115085141 [GRCh37]
Chr13:100385037..114110891 [NCBI36]
Chr13:13q32.3-34		 pathogenic
GRCh38/hg38 13q33.1-34(chr13:102114025-114327173)x1 copy number loss See cases [RCV000051423] Chr13:102114025..114327173 [GRCh38]
Chr13:102766375..115085141 [GRCh37]
Chr13:101564376..114110750 [NCBI36]
Chr13:13q33.1-34		 pathogenic
GRCh38/hg38 13q33.2-34(chr13:106157165-114327173)x1 copy number loss See cases [RCV000051180] Chr13:106157165..114327173 [GRCh38]
Chr13:106809514..115085141 [GRCh37]
Chr13:105607515..114110750 [NCBI36]
Chr13:13q33.2-34		 pathogenic
GRCh38/hg38 13q33.1-34(chr13:101537045-114327173)x1 copy number loss See cases [RCV000051422] Chr13:101537045..114327173 [GRCh38]
Chr13:102189396..115085141 [GRCh37]
Chr13:100987397..114110750 [NCBI36]
Chr13:13q33.1-34		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3 copy number gain See cases [RCV000053726] Chr13:18946182..114304628 [GRCh38]
Chr13:19520322..115070103 [GRCh37]
Chr13:18418322..114088205 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 copy number gain See cases [RCV000053731] Chr13:19837395..114327173 [GRCh38]
Chr13:20411535..115085141 [GRCh37]
Chr13:19309535..114110750 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3 copy number gain See cases [RCV000053719] Chr13:18565048..114327173 [GRCh38]
Chr13:19139188..115085141 [GRCh37]
Chr13:18037188..114110750 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3 copy number gain See cases [RCV000053723] Chr13:18850545..114327173 [GRCh38]
Chr13:19296527..115085141 [GRCh37]
Chr13:18194527..114110750 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3 copy number gain See cases [RCV000053759] Chr13:33528097..114327173 [GRCh38]
Chr13:34102234..115085141 [GRCh37]
Chr13:33000234..114110750 [NCBI36]
Chr13:13q13.2-34		 pathogenic
GRCh38/hg38 13q14.11-34(chr13:43219125-114327314)x3 copy number gain See cases [RCV000053762] Chr13:43219125..114327314 [GRCh38]
Chr13:43793261..115085141 [GRCh37]
Chr13:42691261..114110891 [NCBI36]
Chr13:13q14.11-34		 pathogenic
GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3 copy number gain See cases [RCV000053764] Chr13:44164751..114327173 [GRCh38]
Chr13:44738887..115085141 [GRCh37]
Chr13:43636887..114110750 [NCBI36]
Chr13:13q14.11-34		 pathogenic
GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3 copy number gain See cases [RCV000053767] Chr13:44733046..114327173 [GRCh38]
Chr13:45307182..115085141 [GRCh37]
Chr13:44205182..114110750 [NCBI36]
Chr13:13q14.12-34		 pathogenic
GRCh38/hg38 13q32.3-34(chr13:99472316-114293545)x3 copy number gain See cases [RCV000053792] Chr13:99472316..114293545 [GRCh38]
Chr13:100124570..115059020 [GRCh37]
Chr13:98922571..114077122 [NCBI36]
Chr13:13q32.3-34		 pathogenic
GRCh38/hg38 13q32.3-34(chr13:100039860-114327173)x3 copy number gain See cases [RCV000053795] Chr13:100039860..114327173 [GRCh38]
Chr13:100692114..115085141 [GRCh37]
Chr13:99490115..114110750 [NCBI36]
Chr13:13q32.3-34		 pathogenic
GRCh38/hg38 13q31.1-34(chr13:80628584-114327173)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053772]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053772]|See cases [RCV000053772] Chr13:80628584..114327173 [GRCh38]
Chr13:81202719..115085141 [GRCh37]
Chr13:80100720..114110750 [NCBI36]
Chr13:13q31.1-34		 pathogenic
NM_001080396.2(FAM155A):c.144C>T (p.Phe48=) single nucleotide variant Malignant melanoma [RCV000062637] Chr13:107866453 [GRCh38]
Chr13:108518801 [GRCh37]
Chr13:107316802 [NCBI36]
Chr13:13q33.3		 not provided
NM_001080396.2(FAM155A):c.1087+15811T>C single nucleotide variant Lung cancer [RCV000097679] Chr13:107194773 [GRCh38]
Chr13:107847121 [GRCh37]
Chr13:13q33.3		 uncertain significance
NM_001080396.2(FAM155A):c.916-48619C>G single nucleotide variant Lung cancer [RCV000097680] Chr13:107259374 [GRCh38]
Chr13:107911722 [GRCh37]
Chr13:13q33.3		 uncertain significance
NM_001080396.2(FAM155A):c.916-52907G>T single nucleotide variant Lung cancer [RCV000097681] Chr13:107263662 [GRCh38]
Chr13:107916010 [GRCh37]
Chr13:13q33.3		 uncertain significance
NM_001080396.2(FAM155A):c.916-97116A>T single nucleotide variant Lung cancer [RCV000097682] Chr13:107307871 [GRCh38]
Chr13:107960219 [GRCh37]
Chr13:13q33.3		 uncertain significance
NM_001080396.2(FAM155A):c.916-111296C>A single nucleotide variant Lung cancer [RCV000097683] Chr13:107322051 [GRCh38]
Chr13:107974399 [GRCh37]
Chr13:13q33.3		 uncertain significance
NM_001080396.2(FAM155A):c.916-123797A>T single nucleotide variant Lung cancer [RCV000097684] Chr13:107334552 [GRCh38]
Chr13:107986900 [GRCh37]
Chr13:13q33.3		 uncertain significance
NM_001080396.2(FAM155A):c.916-130497G>T single nucleotide variant Lung cancer [RCV000097685] Chr13:107341252 [GRCh38]
Chr13:107993600 [GRCh37]
Chr13:13q33.3		 uncertain significance
NM_001080396.2(FAM155A):c.916-142126C>G single nucleotide variant Lung cancer [RCV000097686] Chr13:107352881 [GRCh38]
Chr13:108005229 [GRCh37]
Chr13:13q33.3		 uncertain significance
NM_001080396.2(FAM155A):c.916-168912C>T single nucleotide variant Lung cancer [RCV000097687] Chr13:107379667 [GRCh38]
Chr13:108032015 [GRCh37]
Chr13:13q33.3		 uncertain significance
NM_001080396.2(FAM155A):c.916-222753G>T single nucleotide variant Lung cancer [RCV000097688] Chr13:107433508 [GRCh38]
Chr13:108085856 [GRCh37]
Chr13:13q33.3		 uncertain significance
NM_001080396.2(FAM155A):c.916-249870C>G single nucleotide variant Lung cancer [RCV000097689] Chr13:107460625 [GRCh38]
Chr13:108112973 [GRCh37]
Chr13:13q33.3		 uncertain significance
NM_001080396.2(FAM155A):c.916-290983A>T single nucleotide variant Lung cancer [RCV000097690] Chr13:107501738 [GRCh38]
Chr13:108154086 [GRCh37]
Chr13:13q33.3		 uncertain significance
NM_001080396.2(FAM155A):c.916-311279C>G single nucleotide variant Lung cancer [RCV000097691] Chr13:107522034 [GRCh38]
Chr13:108174382 [GRCh37]
Chr13:13q33.3		 uncertain significance
NM_001080396.2(FAM155A):c.915+245629A>G single nucleotide variant Lung cancer [RCV000097692] Chr13:107620053 [GRCh38]
Chr13:108272401 [GRCh37]
Chr13:13q33.3		 uncertain significance
NM_001080396.2(FAM155A):c.915+226320C>G single nucleotide variant Lung cancer [RCV000097693] Chr13:107639362 [GRCh38]
Chr13:108291710 [GRCh37]
Chr13:13q33.3		 uncertain significance
NM_001080396.2(FAM155A):c.915+155206T>A single nucleotide variant Lung cancer [RCV000097694] Chr13:107710476 [GRCh38]
Chr13:108362824 [GRCh37]
Chr13:13q33.3		 uncertain significance
NM_001080396.2(FAM155A):c.915+122976C>G single nucleotide variant Lung cancer [RCV000097695] Chr13:107742706 [GRCh38]
Chr13:108395054 [GRCh37]
Chr13:13q33.3		 uncertain significance
NM_001080396.2(FAM155A):c.915+99287G>A single nucleotide variant Lung cancer [RCV000097696] Chr13:107766395 [GRCh38]
Chr13:108418743 [GRCh37]
Chr13:13q33.3		 uncertain significance
NM_001080396.2(FAM155A):c.915+49267C>A single nucleotide variant Lung cancer [RCV000097697] Chr13:107816415 [GRCh38]
Chr13:108468763 [GRCh37]
Chr13:13q33.3		 uncertain significance
NM_001080396.2(FAM155A):c.915+45341G>T single nucleotide variant Lung cancer [RCV000097698] Chr13:107820341 [GRCh38]
Chr13:108472689 [GRCh37]
Chr13:13q33.3		 uncertain significance
GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3 copy number gain See cases [RCV000134104] Chr13:19833130..114298614 [GRCh38]
Chr13:20407270..115064089 [GRCh37]
Chr13:19305270..114082191 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1 copy number loss See cases [RCV000135610] Chr13:18445862..114327173 [GRCh38]
Chr13:19020001..115085141 [GRCh37]
Chr13:10098739..114110750 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q33.1-34(chr13:101868708-114293545)x3 copy number gain See cases [RCV000136805] Chr13:101868708..114293545 [GRCh38]
Chr13:102521058..115059020 [GRCh37]
Chr13:101319059..114077122 [NCBI36]
Chr13:13q33.1-34		 pathogenic
GRCh38/hg38 13q33.3-34(chr13:107075477-114340331)x1 copy number loss See cases [RCV000137684] Chr13:107075477..114340331 [GRCh38]
Chr13:107727825..115085141 [GRCh37]
Chr13:106525826..114123908 [NCBI36]
Chr13:13q33.3-34		 pathogenic
GRCh38/hg38 13q33.1-34(chr13:102883322-114340331)x1 copy number loss See cases [RCV000137823] Chr13:102883322..114340331 [GRCh38]
Chr13:103535672..115085141 [GRCh37]
Chr13:102333673..114123908 [NCBI36]
Chr13:13q33.1-34		 pathogenic
GRCh38/hg38 13q31.1-34(chr13:78999318-114327106)x3 copy number gain See cases [RCV000138742] Chr13:78999318..114327106 [GRCh38]
Chr13:79573453..115085141 [GRCh37]
Chr13:78471454..114110683 [NCBI36]
Chr13:13q31.1-34		 pathogenic
GRCh38/hg38 13q33.3(chr13:107540865-107708636)x3 copy number gain See cases [RCV000138795] Chr13:107540865..107708636 [GRCh38]
Chr13:108193213..108360984 [GRCh37]
Chr13:106991214..107158985 [NCBI36]
Chr13:13q33.3		 likely benign
GRCh38/hg38 13q31.1-34(chr13:86788927-114340331)x1 copy number loss See cases [RCV000138340] Chr13:86788927..114340331 [GRCh38]
Chr13:87441182..115085141 [GRCh37]
Chr13:86239183..114123908 [NCBI36]
Chr13:13q31.1-34		 pathogenic
GRCh38/hg38 13q32.1-34(chr13:96745059-114327106)x3 copy number gain See cases [RCV000139160] Chr13:96745059..114327106 [GRCh38]
Chr13:97397313..115085141 [GRCh37]
Chr13:96195314..114110683 [NCBI36]
Chr13:13q32.1-34		 pathogenic
GRCh38/hg38 13q33.2-34(chr13:105861075-114342258)x1 copy number loss See cases [RCV000140449] Chr13:105861075..114342258 [GRCh38]
Chr13:106513424..115107733 [GRCh37]
Chr13:105311425..114125835 [NCBI36]
Chr13:13q33.2-34		 pathogenic
GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3 copy number gain See cases [RCV000140004] Chr13:18456040..114340285 [GRCh38]
Chr13:19030180..115105760 [GRCh37]
Chr13:17928180..114123862 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q31.1-34(chr13:78964223-114340331)x3 copy number gain See cases [RCV000141248] Chr13:78964223..114340331 [GRCh38]
Chr13:79538358..115085141 [GRCh37]
Chr13:78436359..114123908 [NCBI36]
Chr13:13q31.1-34		 pathogenic
GRCh38/hg38 13q33.3-34(chr13:107708655-112101112)x1 copy number loss See cases [RCV000141465] Chr13:107708655..112101112 [GRCh38]
Chr13:108361003..112755426 [GRCh37]
Chr13:107159004..111803427 [NCBI36]
Chr13:13q33.3-34		 pathogenic
GRCh38/hg38 13q31.1-34(chr13:83288131-114342258)x3 copy number gain See cases [RCV000141804] Chr13:83288131..114342258 [GRCh38]
Chr13:83862266..115107733 [GRCh37]
Chr13:82760267..114125835 [NCBI36]
Chr13:13q31.1-34		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3 copy number gain See cases [RCV000142924] Chr13:19671934..114340331 [GRCh38]
Chr13:20246074..115085141 [GRCh37]
Chr13:19144074..114123908 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q33.2-34(chr13:104968135-114340331)x1 copy number loss See cases [RCV000143330] Chr13:104968135..114340331 [GRCh38]
Chr13:105620486..115085141 [GRCh37]
Chr13:104418487..114123908 [NCBI36]
Chr13:13q33.2-34		 pathogenic
GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3 copy number gain See cases [RCV000143462] Chr13:18862146..114342258 [GRCh38]
Chr13:19436286..115107733 [GRCh37]
Chr13:18334286..114125835 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q33.2-34(chr13:105423935-114342258)x3 copy number gain See cases [RCV000143556] Chr13:105423935..114342258 [GRCh38]
Chr13:106076284..115107733 [GRCh37]
Chr13:104874285..114125835 [NCBI36]
Chr13:13q33.2-34		 uncertain significance
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 copy number gain See cases [RCV000148126] Chr13:19837395..114327173 [GRCh38]
Chr13:20411535..115085141 [GRCh37]
Chr13:19309535..114110750 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh37/hg19 13q31.2-34(chr13:89796110-115083342)x1 copy number loss See cases [RCV000240161] Chr13:89796110..115083342 [GRCh37]
Chr13:13q31.2-34		 pathogenic
GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3 copy number gain See cases [RCV000240150] Chr13:19571503..115092569 [GRCh37]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q33.3(chr13:107505082-107617448)x1 copy number loss Premature ovarian failure [RCV000225321] Chr13:107505082..107617448 [GRCh38]
Chr13:108157430..108269796 [GRCh37]
Chr13:13q33.3		 benign
GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3 copy number gain See cases [RCV001353184] Chr13:19053605..115108528 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q21.2-34(chr13:61424168-115107733)x3 copy number gain See cases [RCV000449118] Chr13:61424168..115107733 [GRCh37]
Chr13:13q21.2-34		 pathogenic
GRCh37/hg19 13q12.11-34(chr13:19571503-115092510) copy number gain See cases [RCV000449142] Chr13:19571503..115092510 [GRCh37]
Chr13:13q12.11-34		 pathogenic
GRCh37/hg19 13q31.3-34(chr13:94269729-115107733)x3 copy number gain See cases [RCV000447545] Chr13:94269729..115107733 [GRCh37]
Chr13:13q31.3-34		 pathogenic
GRCh37/hg19 13q31.1-34(chr13:82221361-115092569)x3 copy number gain See cases [RCV000447429] Chr13:82221361..115092569 [GRCh37]
Chr13:13q31.1-34		 pathogenic
GRCh37/hg19 13q32.3-34(chr13:101357397-115107733)x3 copy number gain See cases [RCV000447642] Chr13:101357397..115107733 [GRCh37]
Chr13:13q32.3-34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain See cases [RCV000445886] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q33.2-33.3(chr13:105620486-108955885)x1 copy number loss See cases [RCV000448018] Chr13:105620486..108955885 [GRCh37]
Chr13:13q33.2-33.3		 pathogenic
GRCh37/hg19 13q31.2-34(chr13:88073140-115107733)x1 copy number loss See cases [RCV000448405] Chr13:88073140..115107733 [GRCh37]
Chr13:13q31.2-34		 pathogenic
GRCh37/hg19 13q33.2-34(chr13:106056749-115107733)x1 copy number loss See cases [RCV000448783] Chr13:106056749..115107733 [GRCh37]
Chr13:13q33.2-34		 pathogenic
GRCh37/hg19 13q33.1-34(chr13:103170306-115107733)x1 copy number loss See cases [RCV000512127] Chr13:103170306..115107733 [GRCh37]
Chr13:13q33.1-34		 pathogenic
GRCh37/hg19 13q33.1-34(chr13:103880953-115107733)x1 copy number loss See cases [RCV000510433] Chr13:103880953..115107733 [GRCh37]
Chr13:13q33.1-34		 pathogenic
GRCh37/hg19 13q33.3(chr13:107382604-108238714)x3 copy number gain See cases [RCV000510644] Chr13:107382604..108238714 [GRCh37]
Chr13:13q33.3		 uncertain significance
GRCh37/hg19 13q11-34(chr13:19436287-115107733) copy number gain See cases [RCV000510405] Chr13:19436287..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q31.3-34(chr13:94474530-115107733)x1 copy number loss See cases [RCV000510535] Chr13:94474530..115107733 [GRCh37]
Chr13:13q31.3-34		 pathogenic
GRCh37/hg19 13q21.33-34(chr13:71871468-115107733)x4 copy number gain See cases [RCV000510281] Chr13:71871468..115107733 [GRCh37]
Chr13:13q21.33-34		 pathogenic
GRCh37/hg19 13q31.1-34(chr13:80058840-115107733)x3 copy number gain See cases [RCV000510566] Chr13:80058840..115107733 [GRCh37]
Chr13:13q31.1-34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3 copy number gain See cases [RCV000511880] Chr13:19436287..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q31.1-33.3(chr13:80572498-108719528)x1 copy number loss See cases [RCV000510890] Chr13:80572498..108719528 [GRCh37]
Chr13:13q31.1-33.3		 pathogenic
GRCh37/hg19 13q32.1-34(chr13:96586481-115107733)x1 copy number loss See cases [RCV000512257] Chr13:96586481..115107733 [GRCh37]
Chr13:13q32.1-34		 pathogenic
GRCh37/hg19 13q31.1-34(chr13:85176519-115107733)x3 copy number gain See cases [RCV000512242] Chr13:85176519..115107733 [GRCh37]
Chr13:13q31.1-34		 pathogenic
GRCh37/hg19 13q31.3-33.3(chr13:94703767-109731879)x1 copy number loss not provided [RCV000683570] Chr13:94703767..109731879 [GRCh37]
Chr13:13q31.3-33.3		 pathogenic
GRCh37/hg19 13q33.3(chr13:107902875-108275593)x1 copy number loss not provided [RCV000683522] Chr13:107902875..108275593 [GRCh37]
Chr13:13q33.3		 likely benign
GRCh37/hg19 13q33.2-34(chr13:105389857-113467489)x1 copy number loss not provided [RCV000683567] Chr13:105389857..113467489 [GRCh37]
Chr13:13q33.2-34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19058717-115103529)x3 copy number gain not provided [RCV000738115] Chr13:19058717..115103529 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19031237-115107157)x3 copy number gain not provided [RCV000750643] Chr13:19031237..115107157 [GRCh37]
Chr13:13q11-34		 pathogenic
Single allele deletion not provided [RCV000845021] Chr13:107452288..115092569 [GRCh37]
Chr13:13q33.3-34		 not provided
GRCh37/hg19 13q21.2-34(chr13:61775567-115107733)x3 copy number gain not provided [RCV000848025] Chr13:61775567..115107733 [GRCh37]
Chr13:13q21.2-34		 pathogenic
GRCh37/hg19 13q31.3-34(chr13:94849303-115107733)x3 copy number gain not provided [RCV000847710] Chr13:94849303..115107733 [GRCh37]
Chr13:13q31.3-34		 uncertain significance
GRCh37/hg19 13q33.3(chr13:107616571-108237036)x3 copy number gain not provided [RCV001006600] Chr13:107616571..108237036 [GRCh37]
Chr13:13q33.3		 likely benign|uncertain significance
GRCh37/hg19 13q33.3(chr13:107756069-108199533)x3 copy number gain not provided [RCV001006601] Chr13:107756069..108199533 [GRCh37]
Chr13:13q33.3		 likely benign
GRCh37/hg19 13q33.3-34(chr13:108139800-111231833)x3 copy number gain not provided [RCV000849367] Chr13:108139800..111231833 [GRCh37]
Chr13:13q33.3-34		 uncertain significance
GRCh37/hg19 13q33.1-33.3(chr13:104521177-109327788)x1 copy number loss not provided [RCV001006597] Chr13:104521177..109327788 [GRCh37]
Chr13:13q33.1-33.3		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain not provided [RCV000849129] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
NM_001080396.3(NALF1):c.583T>C (p.Trp195Arg) single nucleotide variant not specified [RCV004316682] Chr13:107866014 [GRCh38]
Chr13:108518362 [GRCh37]
Chr13:13q33.3		 uncertain significance
GRCh37/hg19 13q32.1-34(chr13:96895656-115107733)x1 copy number loss not provided [RCV001006591] Chr13:96895656..115107733 [GRCh37]
Chr13:13q32.1-34		 pathogenic
Single allele deletion not provided [RCV001260932] Chr13:102175801..115169858 [GRCh37]
Chr13:13q33.1-34		 pathogenic
GRCh37/hg19 13q33.2-34(chr13:106256198-115107733)x1 copy number loss not provided [RCV001259170] Chr13:106256198..115107733 [GRCh37]
Chr13:13q33.2-34		 pathogenic
GRCh37/hg19 13p13-q34(chr13:1-115169878) copy number gain Complete trisomy 13 syndrome [RCV002280659] Chr13:1..115169878 [GRCh37]
Chr13:13p13-q34		 pathogenic
GRCh37/hg19 13p13-q34(chr13:1-115169878)x3 copy number gain See cases [RCV001780076] Chr13:1..115169878 [GRCh37]
Chr13:13p13-q34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733) copy number gain not specified [RCV002053036] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q33.3(chr13:108035809-110195659) copy number gain not specified [RCV002053085] Chr13:108035809..110195659 [GRCh37]
Chr13:13q33.3		 uncertain significance
GRCh37/hg19 13q31.2-34(chr13:88073140-115107733) copy number loss not specified [RCV002053074] Chr13:88073140..115107733 [GRCh37]
Chr13:13q31.2-34		 pathogenic
GRCh37/hg19 13q33.3(chr13:107775876-108200590)x3 copy number gain not provided [RCV001827750] Chr13:107775876..108200590 [GRCh37]
Chr13:13q33.3		 likely benign
GRCh37/hg19 13q14.11-33.3(chr13:42504540-108206269)x3 copy number gain not provided [RCV001829235] Chr13:42504540..108206269 [GRCh37]
Chr13:13q14.11-33.3		 pathogenic
GRCh37/hg19 13q22.3-34(chr13:78514567-115107733) copy number gain not specified [RCV002053071] Chr13:78514567..115107733 [GRCh37]
Chr13:13q22.3-34		 pathogenic
GRCh37/hg19 13q32.3-34(chr13:100258328-115107733) copy number loss not specified [RCV002053077] Chr13:100258328..115107733 [GRCh37]
Chr13:13q32.3-34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain not provided [RCV001834436] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q21.2-34(chr13:61424168-115107733) copy number gain not specified [RCV002053063] Chr13:61424168..115107733 [GRCh37]
Chr13:13q21.2-34		 pathogenic
GRCh37/hg19 13q33.1-34(chr13:104545892-115107733) copy number loss not specified [RCV002053082] Chr13:104545892..115107733 [GRCh37]
Chr13:13q33.1-34		 pathogenic
GRCh37/hg19 13q31.1-34(chr13:79370012-115107733) copy number loss not specified [RCV002053072] Chr13:79370012..115107733 [GRCh37]
Chr13:13q31.1-34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-114981726) copy number gain not specified [RCV002053035] Chr13:19436286..114981726 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q31.1-34(chr13:85037147-115107733) copy number gain not specified [RCV002053073] Chr13:85037147..115107733 [GRCh37]
Chr13:13q31.1-34		 pathogenic
GRCh37/hg19 13q33.2-34(chr13:106056749-115107733) copy number loss not specified [RCV002053083] Chr13:106056749..115107733 [GRCh37]
Chr13:13q33.2-34		 pathogenic
GRCh37/hg19 13q33.2-34(chr13:106450862-115107733) copy number loss not specified [RCV002053084] Chr13:106450862..115107733 [GRCh37]
Chr13:13q33.2-34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3 copy number gain not provided [RCV002291540] Chr13:19253848..115108937 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q31.2-34(chr13:89490345-115062235)x3 copy number gain See cases [RCV002286354] Chr13:89490345..115062235 [GRCh37]
Chr13:13q31.2-34		 pathogenic
GRCh37/hg19 13q32.3-34(chr13:100334135-110383902)x1 copy number loss not provided [RCV002473790] Chr13:100334135..110383902 [GRCh37]
Chr13:13q32.3-34		 pathogenic
GRCh37/hg19 13q32.1-34(chr13:97142120-115107733)x1 copy number loss not provided [RCV002474828] Chr13:97142120..115107733 [GRCh37]
Chr13:13q32.1-34		 pathogenic
GRCh37/hg19 13q22.1-34(chr13:75268539-115107733)x3 copy number gain not provided [RCV002472537] Chr13:75268539..115107733 [GRCh37]
Chr13:13q22.1-34		 pathogenic
GRCh37/hg19 13q33.3(chr13:107589261-108572861)x3 copy number gain not provided [RCV002475604] Chr13:107589261..108572861 [GRCh37]
Chr13:13q33.3		 uncertain significance
GRCh37/hg19 13q32.3-34(chr13:99421603-115107733)x3 copy number gain not provided [RCV002475671] Chr13:99421603..115107733 [GRCh37]
Chr13:13q32.3-34		 pathogenic
NM_001080396.3(NALF1):c.599C>T (p.Ala200Val) single nucleotide variant not specified [RCV004248373] Chr13:107865998 [GRCh38]
Chr13:108518346 [GRCh37]
Chr13:13q33.3		 uncertain significance
NM_001080396.3(NALF1):c.364C>T (p.Leu122Phe) single nucleotide variant not specified [RCV004269808] Chr13:107866233 [GRCh38]
Chr13:108518581 [GRCh37]
Chr13:13q33.3		 uncertain significance
NM_001080396.3(NALF1):c.868T>G (p.Leu290Val) single nucleotide variant not specified [RCV004274723] Chr13:107865729 [GRCh38]
Chr13:108518077 [GRCh37]
Chr13:13q33.3		 uncertain significance
NM_001080396.3(NALF1):c.638C>T (p.Thr213Ile) single nucleotide variant not specified [RCV004260560] Chr13:107865959 [GRCh38]
Chr13:108518307 [GRCh37]
Chr13:13q33.3		 uncertain significance
NM_001080396.3(NALF1):c.380C>T (p.Ser127Leu) single nucleotide variant not specified [RCV004297816] Chr13:107866217 [GRCh38]
Chr13:108518565 [GRCh37]
Chr13:13q33.3		 uncertain significance
GRCh38/hg38 13q32.2-34(chr13:98343655-110990677)x1 copy number loss Holoprosencephaly 5 [RCV003327700] Chr13:98343655..110990677 [GRCh38]
Chr13:13q32.2-34		 pathogenic
GRCh37/hg19 13q31.1-34(chr13:82131211-115107733)x1 copy number loss not provided [RCV003483192] Chr13:82131211..115107733 [GRCh37]
Chr13:13q31.1-34		 pathogenic
GRCh37/hg19 13q22.1-34(chr13:73488238-115107733)x3 copy number gain not provided [RCV003484901] Chr13:73488238..115107733 [GRCh37]
Chr13:13q22.1-34		 pathogenic
GRCh37/hg19 13q21.2-34(chr13:61534068-115107733)x3 copy number gain not provided [RCV003484899] Chr13:61534068..115107733 [GRCh37]
Chr13:13q21.2-34		 pathogenic
NM_001080396.3(NALF1):c.1305A>G (p.Ala435=) single nucleotide variant not provided [RCV003398385] Chr13:107170569 [GRCh38]
Chr13:107822917 [GRCh37]
Chr13:13q33.3		 likely benign
GRCh37/hg19 13q33.1-34(chr13:103149209-115107733)x1 copy number loss not specified [RCV003987029] Chr13:103149209..115107733 [GRCh37]
Chr13:13q33.1-34		 pathogenic
GRCh37/hg19 13q31.1-34(chr13:84669397-115107733)x1 copy number loss not specified [RCV003987038] Chr13:84669397..115107733 [GRCh37]
Chr13:13q31.1-34		 pathogenic
GRCh37/hg19 13q33.2-34(chr13:106430837-114763645)x3 copy number gain not specified [RCV003987031] Chr13:106430837..114763645 [GRCh37]
Chr13:13q33.2-34		 uncertain significance
GRCh37/hg19 13q33.1-34(chr13:102421732-115107733)x1 copy number loss not specified [RCV003987036] Chr13:102421732..115107733 [GRCh37]
Chr13:13q33.1-34		 pathogenic
GRCh37/hg19 13q32.2-33.3(chr13:98773859-109277603)x1 copy number loss not provided [RCV004442778] Chr13:98773859..109277603 [GRCh37]
Chr13:13q32.2-33.3		 pathogenic
GRCh37/hg19 13q33.3(chr13:107440465-109161884)x1 copy number loss not specified [RCV003987005] Chr13:107440465..109161884 [GRCh37]
Chr13:13q33.3		 pathogenic
NM_001080396.3(NALF1):c.1157A>G (p.Asn386Ser) single nucleotide variant not specified [RCV004471698] Chr13:107170717 [GRCh38]
Chr13:107823065 [GRCh37]
Chr13:13q33.3		 uncertain significance
NM_001080396.3(NALF1):c.1286C>G (p.Thr429Arg) single nucleotide variant not specified [RCV004471714] Chr13:107170588 [GRCh38]
Chr13:107822936 [GRCh37]
Chr13:13q33.3		 uncertain significance
NM_001080396.3(NALF1):c.388A>C (p.Thr130Pro) single nucleotide variant not specified [RCV004471743] Chr13:107866209 [GRCh38]
Chr13:108518557 [GRCh37]
Chr13:13q33.3		 uncertain significance
NM_001080396.3(NALF1):c.418G>A (p.Gly140Ser) single nucleotide variant not specified [RCV004471750] Chr13:107866179 [GRCh38]
Chr13:108518527 [GRCh37]
Chr13:13q33.3		 uncertain significance
NM_001080396.3(NALF1):c.86T>G (p.Phe29Cys) single nucleotide variant not specified [RCV004471788] Chr13:107866511 [GRCh38]
Chr13:108518859 [GRCh37]
Chr13:13q33.3		 uncertain significance
NM_001080396.3(NALF1):c.373G>A (p.Ala125Thr) single nucleotide variant not specified [RCV004471732] Chr13:107866224 [GRCh38]
Chr13:108518572 [GRCh37]
Chr13:13q33.3		 uncertain significance
NM_001080396.3(NALF1):c.410A>C (p.Asp137Ala) single nucleotide variant not specified [RCV004471746] Chr13:107866187 [GRCh38]
Chr13:108518535 [GRCh37]
Chr13:13q33.3		 uncertain significance
GRCh37/hg19 13q32.3-34(chr13:99892724-115108414)x3 copy number gain not provided [RCV004577499] Chr13:99892724..115108414 [GRCh37]
Chr13:13q32.3-34		 pathogenic
NM_001080396.3(NALF1):c.1178T>A (p.Val393Glu) single nucleotide variant not specified [RCV004471701] Chr13:107170696 [GRCh38]
Chr13:107823044 [GRCh37]
Chr13:13q33.3		 uncertain significance
NM_001080396.3(NALF1):c.1193C>A (p.Ser398Tyr) single nucleotide variant not specified [RCV004471708] Chr13:107170681 [GRCh38]
Chr13:107823029 [GRCh37]
Chr13:13q33.3		 uncertain significance
NM_001080396.3(NALF1):c.493G>C (p.Val165Leu) single nucleotide variant not specified [RCV004471757] Chr13:107866104 [GRCh38]
Chr13:108518452 [GRCh37]
Chr13:13q33.3		 uncertain significance
NM_001080396.3(NALF1):c.1178T>C (p.Val393Ala) single nucleotide variant not specified [RCV004471705] Chr13:107170696 [GRCh38]
Chr13:107823044 [GRCh37]
Chr13:13q33.3		 uncertain significance
NM_001080396.3(NALF1):c.1228A>G (p.Thr410Ala) single nucleotide variant not specified [RCV004471711] Chr13:107170646 [GRCh38]
Chr13:107822994 [GRCh37]
Chr13:13q33.3		 uncertain significance
NM_001080396.3(NALF1):c.136T>G (p.Leu46Val) single nucleotide variant not specified [RCV004471720] Chr13:107866461 [GRCh38]
Chr13:108518809 [GRCh37]
Chr13:13q33.3		 uncertain significance
NM_001080396.3(NALF1):c.138G>C (p.Leu46Phe) single nucleotide variant not specified [RCV004471724] Chr13:107866459 [GRCh38]
Chr13:108518807 [GRCh37]
Chr13:13q33.3		 uncertain significance
NM_001080396.3(NALF1):c.341C>G (p.Ser114Trp) single nucleotide variant not specified [RCV004471726] Chr13:107866256 [GRCh38]
Chr13:108518604 [GRCh37]
Chr13:13q33.3		 uncertain significance
NM_001080396.3(NALF1):c.596C>T (p.Ala199Val) single nucleotide variant not specified [RCV004471766] Chr13:107866001 [GRCh38]
Chr13:108518349 [GRCh37]
Chr13:13q33.3		 likely benign
NM_001080396.3(NALF1):c.1193C>T (p.Ser398Phe) single nucleotide variant not specified [RCV004834021] Chr13:107170681 [GRCh38]
Chr13:107823029 [GRCh37]
Chr13:13q33.3		 uncertain significance
NM_001080396.3(NALF1):c.1249C>T (p.Leu417Phe) single nucleotide variant not specified [RCV004834022] Chr13:107170625 [GRCh38]
Chr13:107822973 [GRCh37]
Chr13:13q33.3		 uncertain significance
NM_001080396.3(NALF1):c.148G>A (p.Val50Ile) single nucleotide variant not specified [RCV004834023] Chr13:107866449 [GRCh38]
Chr13:108518797 [GRCh37]
Chr13:13q33.3		 uncertain significance
NM_001080396.3(NALF1):c.898T>C (p.Cys300Arg) single nucleotide variant not specified [RCV004834020] Chr13:107865699 [GRCh38]
Chr13:108518047 [GRCh37]
Chr13:13q33.3		 uncertain significance
NM_001080396.3(NALF1):c.206A>G (p.Asp69Gly) single nucleotide variant not specified [RCV004834018] Chr13:107866391 [GRCh38]
Chr13:108518739 [GRCh37]
Chr13:13q33.3		 uncertain significance
NM_001080396.3(NALF1):c.98A>T (p.Glu33Val) single nucleotide variant not specified [RCV004834019] Chr13:107866499 [GRCh38]
Chr13:108518847 [GRCh37]
Chr13:13q33.3		 uncertain significance
NM_001080396.3(NALF1):c.916-258378_916-258377del microsatellite BRCA2-related cancer predisposition [RCV005358403] Chr13:107469132..107469133 [GRCh38]
Chr13:108121480..108121481 [GRCh37]
Chr13:13q33.3		 pathogenic
NM_001080396.3(NALF1):c.598G>A (p.Ala200Thr) single nucleotide variant not specified [RCV005390102] Chr13:107865999 [GRCh38]
Chr13:108518347 [GRCh37]
Chr13:13q33.3		 uncertain significance
NM_001080396.3(NALF1):c.916-258654_916-258653del deletion Familial pancreatic carcinoma [RCV005360303] Chr13:107469408..107469409 [GRCh38]
Chr13:108121756..108121757 [GRCh37]
Chr13:13q33.3		 pathogenic
NM_001080396.3(NALF1):c.916-265139_916-265138del deletion BRCA2-related cancer predisposition [RCV005358413] Chr13:107475893..107475894 [GRCh38]
Chr13:108128241..108128242 [GRCh37]
Chr13:13q33.3		 pathogenic
NM_001080396.3(NALF1):c.725A>G (p.Asn242Ser) single nucleotide variant not specified [RCV005376700] Chr13:107865872 [GRCh38]
Chr13:108518220 [GRCh37]
Chr13:13q33.3		 uncertain significance
NM_001080396.3(NALF1):c.194C>T (p.Thr65Ile) single nucleotide variant not specified [RCV005390101] Chr13:107866403 [GRCh38]
Chr13:108518751 [GRCh37]
Chr13:13q33.3		 uncertain significance
NM_001080396.3(NALF1):c.310C>T (p.Pro104Ser) single nucleotide variant not specified [RCV005376699] Chr13:107866287 [GRCh38]
Chr13:108518635 [GRCh37]
Chr13:13q33.3		 uncertain significance
GRCh38/hg38 13q22.1-34(chr13:74345951-114327314)x3 copy number gain See cases [RCV000053770] Chr13:74345951..114327314 [GRCh38]
Chr13:74920088..115085141 [GRCh37]
Chr13:73818089..114110891 [NCBI36]
Chr13:13q22.1-34		 pathogenic
GRCh38/hg38 13q33.3(chr13:107794992-108093296)x1 copy number loss See cases [RCV000137019] Chr13:107794992..108093296 [GRCh38]
Chr13:108447340..108745644 [GRCh37]
Chr13:107245341..107543645 [NCBI36]
Chr13:13q33.3		 benign
GRCh38/hg38 13q31.2-34(chr13:88937651-114327173)x3 copy number gain See cases [RCV000137102] Chr13:88937651..114327173 [GRCh38]
Chr13:89589905..115085141 [GRCh37]
Chr13:88387906..114110750 [NCBI36]
Chr13:13q31.2-34		 pathogenic
GRCh38/hg38 13q31.3-33.3(chr13:93345058-109458154)x1 copy number loss See cases [RCV000136688] Chr13:93345058..109458154 [GRCh38]
Chr13:93997311..110110501 [GRCh37]
Chr13:92795312..108908502 [NCBI36]
Chr13:13q31.3-33.3		 pathogenic
GRCh38/hg38 13q32.1-33.3(chr13:97213871-109162916)x1 copy number loss See cases [RCV000138024] Chr13:97213871..109162916 [GRCh38]
Chr13:97866125..109815264 [GRCh37]
Chr13:96664126..108613265 [NCBI36]
Chr13:13q32.1-33.3		 pathogenic
GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1 copy number loss See cases [RCV000137893] Chr13:40942298..114340331 [GRCh38]
Chr13:41516434..115085141 [GRCh37]
Chr13:40414434..114123908 [NCBI36]
Chr13:13q14.11-34		 pathogenic
GRCh38/hg38 13q33.3(chr13:106975147-107918257)x3 copy number gain See cases [RCV000139374] Chr13:106975147..107918257 [GRCh38]
Chr13:107627495..108570605 [GRCh37]
Chr13:106425496..107368606 [NCBI36]
Chr13:13q33.3		 likely benign
GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3 copy number gain See cases [RCV000139078] Chr13:19833130..114327106 [GRCh38]
Chr13:20407270..115085141 [GRCh37]
Chr13:19305270..114110683 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q32.1-34(chr13:95744855-110863818)x3 copy number gain See cases [RCV000139021] Chr13:95744855..110863818 [GRCh38]
Chr13:96397109..111516165 [GRCh37]
Chr13:95195110..110314166 [NCBI36]
Chr13:13q32.1-34		 pathogenic
GRCh38/hg38 13q33.3(chr13:107376723-107502618)x1 copy number loss See cases [RCV000139973] Chr13:107376723..107502618 [GRCh38]
Chr13:108029071..108154966 [GRCh37]
Chr13:106827072..106952967 [NCBI36]
Chr13:13q33.3		 likely benign
GRCh38/hg38 13q33.1-34(chr13:101762788-114340285)x3 copy number gain See cases [RCV000141331] Chr13:101762788..114340285 [GRCh38]
Chr13:102415138..115105760 [GRCh37]
Chr13:101213139..114123862 [NCBI36]
Chr13:13q33.1-34		 pathogenic
GRCh38/hg38 13q33.1-34(chr13:103914488-110857896)x3 copy number gain See cases [RCV000143101] Chr13:103914488..110857896 [GRCh38]
Chr13:104566838..111510243 [GRCh37]
Chr13:103364839..110308244 [NCBI36]
Chr13:13q33.1-34		 uncertain significance
GRCh37/hg19 13q14.3-33.3(chr13:53551300-109850651)x1 copy number loss See cases [RCV000449272] Chr13:53551300..109850651 [GRCh37]
Chr13:13q14.3-33.3		 pathogenic
GRCh37/hg19 13q33.2-34(chr13:106941499-113674752)x3 copy number gain See cases [RCV000447024] Chr13:106941499..113674752 [GRCh37]
Chr13:13q33.2-34		 uncertain significance
GRCh37/hg19 13q33.2-34(chr13:106450862-115107733)x1 copy number loss See cases [RCV000447192] Chr13:106450862..115107733 [GRCh37]
Chr13:13q33.2-34		 pathogenic
GRCh37/hg19 13q21.1-34(chr13:56431743-115107733) copy number gain See cases [RCV000510722] Chr13:56431743..115107733 [GRCh37]
Chr13:13q21.1-34		 pathogenic
GRCh37/hg19 13q31.1-34(chr13:83435292-115107733)x3 copy number gain See cases [RCV000512605] Chr13:83435292..115107733 [GRCh37]
Chr13:13q31.1-34		 pathogenic
GRCh37/hg19 13q33.3(chr13:108035809-110197673)x3 copy number gain not provided [RCV000683554] Chr13:108035809..110197673 [GRCh37]
Chr13:13q33.3		 uncertain significance
GRCh37/hg19 13q33.3-34(chr13:108083664-115107733)x1 copy number loss not provided [RCV000683566] Chr13:108083664..115107733 [GRCh37]
Chr13:13q33.3-34		 pathogenic
GRCh37/hg19 13q22.3-34(chr13:78590089-115107733)x3 copy number gain not provided [RCV000683571] Chr13:78590089..115107733 [GRCh37]
Chr13:13q22.3-34		 pathogenic
GRCh37/hg19 13q32.3-34(chr13:101075864-115105020)x1 copy number loss not provided [RCV000738357] Chr13:101075864..115105020 [GRCh37]
Chr13:13q32.3-34		 pathogenic
GRCh37/hg19 13q33.3(chr13:108454595-108489747)x1 copy number loss not provided [RCV000738372] Chr13:108454595..108489747 [GRCh37]
Chr13:13q33.3		 benign
GRCh37/hg19 13q33.1-34(chr13:104539503-115103529)x1 copy number loss not provided [RCV000750890] Chr13:104539503..115103529 [GRCh37]
Chr13:13q33.1-34		 pathogenic
GRCh37/hg19 13q33.1-34(chr13:101881803-115091330) copy number gain not provided [RCV000767821] Chr13:101881803..115091330 [GRCh37]
Chr13:13q33.1-34		 pathogenic
GRCh37/hg19 13q14.3-34(chr13:53262013-115107733)x1 copy number loss not provided [RCV001006567] Chr13:53262013..115107733 [GRCh37]
Chr13:13q14.3-34		 pathogenic
Single allele deletion Distal monosomy 13q [RCV001391677] Chr13:94679977..111536145 [GRCh37]
Chr13:13q31.3-34		 pathogenic
GRCh38/hg38 13q33.3-34(chr13:106425676-114326445)x1 copy number loss Chromosome 13q33-q34 deletion syndrome [RCV003327641] Chr13:106425676..114326445 [GRCh38]
Chr13:13q33.3-34		 pathogenic
NM_001080396.3(NALF1):c.230_238del (p.Arg77_Gln79del) deletion not provided [RCV003398386] Chr13:107866359..107866367 [GRCh38]
Chr13:108518707..108518715 [GRCh37]
Chr13:13q33.3		 benign
NM_001080396.3(NALF1):c.533C>T (p.Ser178Leu) single nucleotide variant not specified [RCV004350599] Chr13:107866064 [GRCh38]
Chr13:108518412 [GRCh37]
Chr13:13q33.3		 uncertain significance
GRCh37/hg19 13q33.2-34(chr13:106591678-115107733)x1 copy number loss not specified [RCV003987016] Chr13:106591678..115107733 [GRCh37]
Chr13:13q33.2-34		 pathogenic
GRCh37/hg19 13q33.1-34(chr13:104389334-115107733)x1 copy number loss not specified [RCV003987019] Chr13:104389334..115107733 [GRCh37]
Chr13:13q33.1-34		 pathogenic
GRCh37/hg19 13q33.2-34(chr13:105761074-115107733)x1 copy number loss not specified [RCV003987020] Chr13:105761074..115107733 [GRCh37]
Chr13:13q33.2-34		 pathogenic
GRCh37/hg19 13q31.1-34(chr13:82876219-115107733)x3 copy number gain not specified [RCV003987023] Chr13:82876219..115107733 [GRCh37]
Chr13:13q31.1-34		 pathogenic
GRCh37/hg19 13q33.1-33.3(chr13:103694735-109007552)x1 copy number loss not specified [RCV003987025] Chr13:103694735..109007552 [GRCh37]
Chr13:13q33.1-33.3		 uncertain significance
NM_001080396.3(NALF1):c.72G>C (p.Glu24Asp) single nucleotide variant not specified [RCV004471778] Chr13:107866525 [GRCh38]
Chr13:108518873 [GRCh37]
Chr13:13q33.3		 uncertain significance
Single allele deletion Chromosome 13q33-q34 deletion syndrome [RCV005420497] Chr13:101616289..114342258 [GRCh38]
Chr13:13q33.1-34		 pathogenic
NM_001080396.3(NALF1):c.991A>G (p.Lys331Glu) single nucleotide variant not specified [RCV004471793] Chr13:107210680 [GRCh38]
Chr13:107863028 [GRCh37]
Chr13:13q33.3		 uncertain significance
NM_001080396.3(NALF1):c.352C>G (p.Gln118Glu) single nucleotide variant not specified [RCV004652271] Chr13:107866245 [GRCh38]
Chr13:108518593 [GRCh37]
Chr13:13q33.3		 uncertain significance
NM_001080396.3(NALF1):c.39C>G (p.Asp13Glu) single nucleotide variant not specified [RCV004652272] Chr13:107866558 [GRCh38]
Chr13:108518906 [GRCh37]
Chr13:13q33.3		 uncertain significance
NM_001080396.3(NALF1):c.503T>C (p.Leu168Pro) single nucleotide variant not specified [RCV004652273] Chr13:107866094 [GRCh38]
Chr13:108518442 [GRCh37]
Chr13:13q33.3		 uncertain significance
NM_001080396.3(NALF1):c.23G>C (p.Cys8Ser) single nucleotide variant not specified [RCV004652274] Chr13:107866574 [GRCh38]
Chr13:108518922 [GRCh37]
Chr13:13q33.3		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:499
Count of miRNA genes:377
Interacting mature miRNAs:402
Transcripts:ENST00000375915
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597608862GWAS1665722_Hdiverticulitis QTL GWAS1665722 (human)6e-15diverticulitis13107566610107566611Human
597213980GWAS1310054_Hempathy measurement QTL GWAS1310054 (human)0.000007emotion/affect behavior trait (VT:0002572)13107753474107753475Human
597197724GWAS1293798_Hmemory performance QTL GWAS1293798 (human)0.0000002learning/memory/conditioning trait (VT:0002063)13107264429107264430Human
597608729GWAS1665589_Hdiverticular disease QTL GWAS1665589 (human)1e-34colorectal integrity trait (VT:0010901)13107572636107572637Human
597207952GWAS1304026_Hdiverticulitis QTL GWAS1304026 (human)5e-08diverticulitis13107249894107249895Human
597340818GWAS1436892_HCXCL5 measurement QTL GWAS1436892 (human)0.000006chemokine amount (VT:0008721)13107378173107378174Human
597207953GWAS1304027_Hdiverticulitis QTL GWAS1304027 (human)0.0000002diverticulitis13107572636107572637Human
597097755GWAS1193829_Hdiverticular disease QTL GWAS1193829 (human)2e-09colorectal integrity trait (VT:0010901)13107566610107566611Human
597616656GWAS1673516_Hdiverticular disease QTL GWAS1673516 (human)4e-40colorectal integrity trait (VT:0010901)13107566517107566518Human
597207946GWAS1304020_Hdiverticular disease QTL GWAS1304020 (human)1e-08colorectal integrity trait (VT:0010901)13107572636107572637Human
407225681GWAS874657_Hreading and spelling ability QTL GWAS874657 (human)0.000007cognitive behavior trait (VT:0010450)13107482561107482562Human
597208832GWAS1304906_Hdiverticular disease QTL GWAS1304906 (human)1e-13colorectal integrity trait (VT:0010901)13107563056107563057Human
597068299GWAS1164373_HBorderline personality disorder QTL GWAS1164373 (human)0.000008Borderline personality disorder13107750203107750204Human
597271684GWAS1367758_HX-12063 measurement QTL GWAS1367758 (human)1e-08X-12063 measurement13107475636107475637Human
597344570GWAS1440644_Hbody mass index QTL GWAS1440644 (human)1e-09body size trait (VT:0100005)body mass index (BMI) (CMO:0000105)13107202264107202265Human
597022900GWAS1118974_Hmalaria QTL GWAS1118974 (human)0.000003response to parasitic infection trait (VT:0010437)13107575665107575666Human
597049136GWAS1145210_Hadolescent idiopathic scoliosis QTL GWAS1145210 (human)2e-10adolescent idiopathic scoliosis13107500213107500214Human
597022909GWAS1118983_Hmalaria QTL GWAS1118983 (human)0.0000006response to parasitic infection trait (VT:0010437)13107575665107575666Human
597108413GWAS1204487_Hmathematical ability QTL GWAS1204487 (human)7e-09cognitive behavior trait (VT:0010450)13107166749107166750Human
2289426BW213_HBody weight QTL 213 (human)2.780.0002Body weightBMI1384267977110267977Human
597116455GWAS1212529_Hmathematical ability QTL GWAS1212529 (human)2e-08cognitive behavior trait (VT:0010450)13107166749107166750Human
597113510GWAS1209584_Hamyloid-beta measurement QTL GWAS1209584 (human)0.000003serum amyloid protein amount (VT:0010037)13107470761107470762Human
596956838GWAS1076357_Halcohol consumption measurement QTL GWAS1076357 (human)0.000008alcohol consumption measurement13107346195107346196Human
596981795GWAS1101314_Hmemory performance QTL GWAS1101314 (human)0.0000002memory performance13107264429107264430Human
597142447GWAS1238521_Hsevere acute respiratory syndrome, COVID-19 QTL GWAS1238521 (human)0.000005severe acute respiratory syndrome, COVID-1913107363097107363098Human
597322403GWAS1418477_Hplatelet-activating factor measurement QTL GWAS1418477 (human)9e-09blood phospholipid amount (VT:0006084)13107604872107604873Human
597310115GWAS1406189_Hvaginal microbiome measurement QTL GWAS1406189 (human)0.0000003vaginal microbiome measurement13107493360107493361Human
2289433BW340_HBody weight QTL 340 (human)3.11Body morphometrywaist circumference1384267977110267977Human
597618270GWAS1675130_Hdiverticular disease QTL GWAS1675130 (human)3e-45colorectal integrity trait (VT:0010901)13107572636107572637Human
597201500GWAS1297574_Hpregnancy disorder QTL GWAS1297574 (human)0.000003pregnancy disorder13107304348107304349Human
597028562GWAS1124636_Hbody mass index QTL GWAS1124636 (human)7e-11body size trait (VT:0100005)body mass index (BMI) (CMO:0000105)13107202264107202265Human
597106640GWAS1202714_Hcytokine measurement QTL GWAS1202714 (human)0.000003cytokine amount (VT:0008713)blood cytokine measurement (CMO:0001924)13107368167107368168Human
597309267GWAS1405341_Hvaginal microbiome measurement QTL GWAS1405341 (human)0.000008vaginal microbiome measurement13107435151107435152Human
406965258GWAS614234_Hpyroglutamine measurement QTL GWAS614234 (human)0.000003pyroglutamine measurement13107839244107839245Human
597092957GWAS1189031_Hobsessive-compulsive symptom measurement QTL GWAS1189031 (human)0.000006anxiety-related behavior trait (VT:0010716)13107213094107213095Human
597204821GWAS1300895_Hdaytime rest measurement QTL GWAS1300895 (human)1e-19sleep behavior trait (VT:0001501)13107168041107168042Human
596956486GWAS1076005_Hbody mass index QTL GWAS1076005 (human)1e-10body mass index13107202264107202265Human
596980678GWAS1100197_Hmemory performance QTL GWAS1100197 (human)0.000005memory performance13107262580107262581Human
597028173GWAS1124247_Hsquamous cell lung carcinoma, family history of lung cancer QTL GWAS1124247 (human)0.0000007lung integrity trait (VT:0010906)13107661103107661104Human
597063630GWAS1159704_Hcognitive impairment measurement QTL GWAS1159704 (human)0.000002cognitive behavior trait (VT:0010450)13107165321107165322Human
406960284GWAS609260_Hanorexia nervosa QTL GWAS609260 (human)0.000008anorexia nervosa13107604872107604873Human
597275518GWAS1371592_Htestosterone measurement QTL GWAS1371592 (human)4e-10blood testosterone amount (VT:0005180)serum testosterone level (CMO:0000568)13107344486107344487Human
597097215GWAS1193289_Hdiverticular disease QTL GWAS1193289 (human)5e-12colorectal integrity trait (VT:0010901)13107250422107250423Human
597276402GWAS1372476_Htestosterone measurement QTL GWAS1372476 (human)5e-08blood testosterone amount (VT:0005180)serum testosterone level (CMO:0000568)13107344486107344487Human
597617653GWAS1674513_Hdiverticulitis QTL GWAS1674513 (human)2e-19diverticulitis13107566610107566611Human
406994862GWAS643838_Hbody composition measurement QTL GWAS643838 (human)0.000007body mass (VT:0001259)13107832106107832107Human
597100155GWAS1196229_Hprotein measurement QTL GWAS1196229 (human)6e-14protein amount (VT:0010120)13107855222107855223Human
597343478GWAS1439552_Hdiverticular disease QTL GWAS1439552 (human)1e-38colorectal integrity trait (VT:0010901)13107563852107563853Human
597196662GWAS1292736_Hmemory performance QTL GWAS1292736 (human)0.000005learning/memory/conditioning trait (VT:0002063)13107262580107262581Human
597343476GWAS1439550_Hdiverticular disease QTL GWAS1439550 (human)5e-25colorectal integrity trait (VT:0010901)13107249894107249895Human
597321460GWAS1417534_HSphingomyelin (d18:2/24:1, d18:1/24:2) measurement QTL GWAS1417534 (human)6e-08Sphingomyelin (d18:2/24:1, d18:1/24:2) measurement13107241142107241143Human
597082343GWAS1178417_Hbody mass index QTL GWAS1178417 (human)1e-10body size trait (VT:0100005)body mass index (BMI) (CMO:0000105)13107202264107202265Human
597023081GWAS1119155_Hresponse to carboplatin QTL GWAS1119155 (human)0.000005response to carboplatin13107290084107290085Human

Markers in Region
D13S778  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713108,476,273 - 108,476,430UniSTSGRCh37
Build 3613107,274,274 - 107,274,431RGDNCBI36
Celera1389,320,690 - 89,320,847RGD
Cytogenetic Map13q33.3UniSTS
HuRef1389,066,821 - 89,066,978UniSTS
Marshfield Genetic Map1396.7RGD
Marshfield Genetic Map1396.7UniSTS
deCODE Assembly Map13112.94UniSTS
Whitehead-YAC Contig Map13 UniSTS
D13S796  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713107,888,965 - 107,889,127UniSTSGRCh37
Build 3613106,686,966 - 106,687,128RGDNCBI36
Celera1388,733,150 - 88,733,312RGD
Cytogenetic Map13q33.3UniSTS
HuRef1388,480,161 - 88,480,319UniSTS
Marshfield Genetic Map1393.52RGD
Marshfield Genetic Map1393.52UniSTS
deCODE Assembly Map13109.67UniSTS
Whitehead-YAC Contig Map13 UniSTS
D13S630  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713107,853,473 - 107,853,624UniSTSGRCh37
Build 3613106,651,474 - 106,651,625RGDNCBI36
Celera1388,697,657 - 88,697,808RGD
Cytogenetic Map13q33.3UniSTS
HuRef1388,444,664 - 88,444,815UniSTS
Marshfield Genetic Map1393.52UniSTS
Marshfield Genetic Map1393.52RGD
deCODE Assembly Map13109.36UniSTS
RH11314  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713107,821,039 - 107,821,183UniSTSGRCh37
Build 3613106,619,040 - 106,619,184RGDNCBI36
Celera1388,665,238 - 88,665,382RGD
Cytogenetic Map13q33.3UniSTS
HuRef1388,412,250 - 88,412,394UniSTS
RH92787  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713108,496,005 - 108,496,160UniSTSGRCh37
Build 3613107,294,006 - 107,294,161RGDNCBI36
Celera1389,340,419 - 89,340,574RGD
Cytogenetic Map13q33.3UniSTS
HuRef1389,086,541 - 89,086,696UniSTS
GeneMap99-GB4 RH Map13306.02UniSTS
G43528  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713108,261,897 - 108,262,034UniSTSGRCh37
GRCh3775,037,657 - 5,037,796UniSTSGRCh37
Build 3675,004,183 - 5,004,322RGDNCBI36
Celera74,997,009 - 4,997,148RGD
Celera1389,105,685 - 89,105,822UniSTS
Cytogenetic Map13q33.3UniSTS
Cytogenetic Map7p22.1UniSTS
HuRef74,952,765 - 4,952,904UniSTS
HuRef1388,852,587 - 88,852,724UniSTS
CRA_TCAGchr7v275,084,012 - 5,084,151UniSTS
RH102388  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713107,835,200 - 107,835,335UniSTSGRCh37
Build 3613106,633,201 - 106,633,336RGDNCBI36
Celera1388,679,390 - 88,679,525RGD
Cytogenetic Map13q33.3UniSTS
HuRef1388,426,396 - 88,426,531UniSTS
GeneMap99-GB4 RH Map13302.52UniSTS
SHGC-78918  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713107,984,286 - 107,984,632UniSTSGRCh37
Build 3613106,782,287 - 106,782,633RGDNCBI36
Celera1388,828,105 - 88,828,451RGD
Cytogenetic Map13q33.3UniSTS
HuRef1388,575,074 - 88,575,420UniSTS
TNG Radiation Hybrid Map1340384.0UniSTS
SHGC-81770  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713108,031,656 - 108,031,970UniSTSGRCh37
Build 3613106,829,657 - 106,829,971RGDNCBI36
Celera1388,875,455 - 88,875,769RGD
Cytogenetic Map13q33.3UniSTS
HuRef1388,622,278 - 88,622,592UniSTS
TNG Radiation Hybrid Map1340416.0UniSTS
RH122502  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713108,180,406 - 108,180,615UniSTSGRCh37
Build 3613106,978,407 - 106,978,616RGDNCBI36
Celera1389,024,190 - 89,024,399RGD
Cytogenetic Map13q33.3UniSTS
HuRef1388,771,005 - 88,771,214UniSTS
TNG Radiation Hybrid Map1340493.0UniSTS
D13S619  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713108,518,605 - 108,518,787UniSTSGRCh37
Build 3613107,316,606 - 107,316,788RGDNCBI36
Celera1389,363,022 - 89,363,204RGD
Cytogenetic Map13q33.3UniSTS
HuRef1389,109,130 - 89,109,312UniSTS
D13S669E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713107,820,905 - 107,821,107UniSTSGRCh37
Build 3613106,618,906 - 106,619,108RGDNCBI36
Celera1388,665,104 - 88,665,306RGD
Cytogenetic Map13q33.3UniSTS
HuRef1388,412,116 - 88,412,318UniSTS
SHGC-106087  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713108,241,103 - 108,241,393UniSTSGRCh37
Build 3613107,039,104 - 107,039,394RGDNCBI36
Celera1389,084,890 - 89,085,180RGD
Cytogenetic Map13q33.3UniSTS
HuRef1388,831,792 - 88,832,082UniSTS
TNG Radiation Hybrid Map1340519.0UniSTS
SHGC-142229  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713108,061,506 - 108,061,784UniSTSGRCh37
Build 3613106,859,507 - 106,859,785RGDNCBI36
Celera1388,905,294 - 88,905,572RGD
Cytogenetic Map13q33.3UniSTS
HuRef1388,652,132 - 88,652,410UniSTS
TNG Radiation Hybrid Map1340452.0UniSTS
SHGC-143349  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713108,354,039 - 108,354,311UniSTSGRCh37
Build 3613107,152,040 - 107,152,312RGDNCBI36
Celera1389,197,858 - 89,198,130RGD
Cytogenetic Map13q33.3UniSTS
HuRef1388,944,740 - 88,945,012UniSTS
TNG Radiation Hybrid Map1340544.0UniSTS
SHGC-144964  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713108,429,510 - 108,429,718UniSTSGRCh37
Build 3613107,227,511 - 107,227,719RGDNCBI36
Celera1389,273,339 - 89,273,547RGD
Cytogenetic Map13q33.3UniSTS
HuRef1389,020,226 - 89,020,434UniSTS
TNG Radiation Hybrid Map1340566.0UniSTS
D13S908  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713108,175,406 - 108,175,630UniSTSGRCh37
Build 3613106,973,407 - 106,973,631RGDNCBI36
Celera1389,019,190 - 89,019,414RGD
Cytogenetic Map13q33.3UniSTS
HuRef1388,766,005 - 88,766,229UniSTS
Whitehead-RH Map13297.6UniSTS
Whitehead-YAC Contig Map13 UniSTS
AFMa304yb5  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713107,834,457 - 107,834,641UniSTSGRCh37
Build 3613106,632,458 - 106,632,642RGDNCBI36
Celera1388,678,647 - 88,678,831RGD
Cytogenetic Map13q33.3UniSTS
HuRef1388,425,653 - 88,425,837UniSTS
Whitehead-RH Map13296.1UniSTS
Whitehead-YAC Contig Map13 UniSTS
D13S1487  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713108,476,277 - 108,476,430UniSTSGRCh37
Build 3613107,274,278 - 107,274,431RGDNCBI36
Celera1389,320,694 - 89,320,847RGD
Cytogenetic Map13q33.3UniSTS
HuRef1389,066,825 - 89,066,978UniSTS
contig_117426  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713108,314,940 - 108,315,176UniSTSGRCh37
Celera1389,158,745 - 89,158,981UniSTS
D16Bir10  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372223,159,006 - 223,160,356UniSTSGRCh37
Celera2216,927,028 - 216,928,378UniSTS
HuRef1388,518,993 - 88,520,496UniSTS
HuRef2215,013,070 - 215,014,420UniSTS


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
renal system
reproductive system
respiratory system
sensory system
visual system
1203 2351 2646 2217 4853 1625 2211 1 536 913 381 2181 5960 5410 41 3713 817 1675 1560 166 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001080396 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011521109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK295445 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136964 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL137219 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL138710 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL138914 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL359831 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL445204 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL445649 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW592075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC146878 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC157830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC157855 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC157862 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068265 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA779672 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L10374 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  N69765 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000375915   ⟹   ENSP00000365080
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl13107,163,510 - 107,867,496 (-)Ensembl
RefSeq Acc Id: NM_001080396   ⟹   NP_001073865
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3813107,163,510 - 107,867,496 (-)NCBI
GRCh3713107,820,879 - 108,519,460 (-)RGD
Build 3613106,618,880 - 107,317,084 (-)NCBI Archive
Celera1388,665,078 - 89,363,877 (-)RGD
HuRef1388,412,090 - 89,109,979 (-)ENTREZGENE
CHM1_113107,789,293 - 108,488,213 (-)NCBI
T2T-CHM13v2.013106,389,828 - 107,093,540 (-)NCBI
Sequence:
RefSeq Acc Id: NP_001073865   ⟸   NM_001080396
- UniProtKB: B2RUV1 (UniProtKB/Swiss-Prot),   B7Z334 (UniProtKB/Swiss-Prot),   B1AL88 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000365080   ⟸   ENST00000375915

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-B1AL88-F1-model_v2 AlphaFold B1AL88 1-458 view protein structure

Promoters
RGD ID:6790869
Promoter ID:HG_KWN:18512
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:UC001VQL.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3613107,316,816 - 107,317,817 (-)MPROMDB
RGD ID:7226793
Promoter ID:EPDNEW_H19142
Type:initiation region
Name:FAM155A_2
Description:family with sequence similarity 155 member A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H19143  EPDNEW_H19144  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3813107,866,644 - 107,866,704EPDNEW
RGD ID:7226795
Promoter ID:EPDNEW_H19143
Type:initiation region
Name:FAM155A_3
Description:family with sequence similarity 155 member A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H19142  EPDNEW_H19144  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3813107,866,868 - 107,866,928EPDNEW
RGD ID:7226797
Promoter ID:EPDNEW_H19144
Type:initiation region
Name:FAM155A_1
Description:family with sequence similarity 155 member A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H19142  EPDNEW_H19143  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3813107,867,102 - 107,867,162EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:33877 AgrOrtholog
COSMIC NALF1 COSMIC
Ensembl Genes ENSG00000204442 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000375915 ENTREZGENE
  ENST00000375915.4 UniProtKB/Swiss-Prot
GTEx ENSG00000204442 GTEx
HGNC ID HGNC:33877 ENTREZGENE
Human Proteome Map NALF1 Human Proteome Map
InterPro NALCN_aux_factor_1/2 UniProtKB/Swiss-Prot
KEGG Report hsa:728215 UniProtKB/Swiss-Prot
NCBI Gene 728215 ENTREZGENE
OMIM 619899 OMIM
PANTHER PTHR15819:SF9 UniProtKB/Swiss-Prot
  TRANSMEMBRANE PROTEIN FAM155 UniProtKB/Swiss-Prot
PharmGKB PA166351979 PharmGKB
Superfamily-SCOP beta-sandwich domain of Sec23/24 UniProtKB/Swiss-Prot
UniProt B1AL88 ENTREZGENE
  B2RUV1 ENTREZGENE
  B7Z334 ENTREZGENE
  F155A_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B2RUV1 UniProtKB/Swiss-Prot
  B7Z334 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2021-04-19 NALF1  NALCN channel auxiliary factor 1  FAM155A  family with sequence similarity 155 member A  Symbol and/or name change 19259463 PROVISIONAL
2015-11-24 FAM155A  family with sequence similarity 155 member A    family with sequence similarity 155, member A  Symbol and/or name change 5135510 APPROVED