COL14A1 (collagen type XIV alpha 1 chain) - Rat Genome Database

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Gene: COL14A1 (collagen type XIV alpha 1 chain) Homo sapiens
Analyze
Symbol: COL14A1
Name: collagen type XIV alpha 1 chain
RGD ID: 1314064
HGNC Page HGNC:2191
Description: Enables RNA binding activity. Predicted to be involved in cell adhesion and extracellular matrix organization. Predicted to act upstream of or within several processes, including collagen fibril organization; regulation of cell growth involved in cardiac muscle cell development; and ventricular cardiac muscle tissue development. Located in collagen-containing extracellular matrix and extracellular space. Implicated in esophagus squamous cell carcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: collagen alpha-1(XIV) chain; collagen type XIV alpha 1; collagen, type XIV, alpha 1; collagen, type xiv, alpha 1 (undulin); UND; undulin (fibronectin-tenascin-related)
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
GRCh388120,124,454 - 120,373,573 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl8120,059,780 - 120,373,573 (+)EnsemblGRCh38hg38GRCh38
GRCh378121,137,341 - 121,385,812 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368121,206,533 - 121,453,454 (+)NCBINCBI36Build 36hg18NCBI36
Celera8117,326,467 - 117,573,360 (+)NCBICelera
Cytogenetic Map8q24.12NCBI
HuRef8116,457,995 - 116,704,917 (+)NCBIHuRef
CHM1_18121,177,769 - 121,424,764 (+)NCBICHM1_1
T2T-CHM13v2.08121,253,115 - 121,502,333 (+)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
(1->4)-beta-D-glucan  (ISO)
1,2-dichloroethane  (ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (EXP)
2-butoxyethanol  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
4-nonylphenol  (EXP)
4-tert-Octylphenol  (EXP)
5-aza-2'-deoxycytidine  (EXP)
5-azacytidine  (EXP)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (EXP)
aristolochic acid A  (EXP)
arsenous acid  (EXP)
atrazine  (ISO)
benzatropine  (EXP)
benzo[a]pyrene  (EXP)
benzo[b]fluoranthene  (ISO)
Benzo[k]fluoranthene  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
bleomycin A2  (ISO)
buspirone  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
copper atom  (ISO)
copper(0)  (ISO)
Cuprizon  (EXP,ISO)
cyclosporin A  (EXP)
dexamethasone  (EXP)
dextran sulfate  (ISO)
diarsenic trioxide  (EXP)
dimethylarsinic acid  (ISO)
dioxygen  (ISO)
diquat  (ISO)
diuron  (ISO)
dorsomorphin  (EXP)
elemental selenium  (EXP)
endosulfan  (ISO)
entinostat  (EXP)
ethanol  (EXP,ISO)
flutamide  (ISO)
folic acid  (EXP)
fonofos  (EXP)
furan  (ISO)
genistein  (ISO)
gentamycin  (ISO)
glyphosate  (ISO)
indole-3-methanol  (ISO)
inulin  (ISO)
isotretinoin  (EXP)
maneb  (ISO)
methoxychlor  (ISO)
methylmercury chloride  (EXP)
nefazodone  (ISO)
nickel atom  (EXP)
nimesulide  (ISO)
oxaliplatin  (ISO)
ozone  (ISO)
p-tert-Amylphenol  (EXP)
panobinostat  (EXP)
paracetamol  (ISO)
paraquat  (EXP,ISO)
parathion  (EXP)
pentane-2,3-dione  (ISO)
perfluorohexanesulfonic acid  (ISO)
perfluorononanoic acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
potassium dichromate  (EXP)
progesterone  (EXP)
rofecoxib  (EXP)
rotenone  (ISO)
SB 431542  (EXP)
selenium atom  (EXP)
silicon dioxide  (ISO)
sodium arsenite  (ISO)
sodium fluoride  (ISO)
succimer  (ISO)
sunitinib  (EXP)
terbufos  (EXP)
testosterone enanthate  (EXP)
tetrachloromethane  (ISO)
titanium dioxide  (ISO)
topotecan  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
triphenyl phosphate  (ISO)
triptonide  (ISO)
troglitazone  (ISO)
trovafloxacin  (ISO)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

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

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Identification of a DNA methylome profile of esophageal squamous cell carcinoma and potential plasma epigenetic biomarkers for early diagnosis. Li X, etal., PLoS One. 2014 Jul 22;9(7):e103162. doi: 10.1371/journal.pone.0103162. eCollection 2014.
3. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:1716629   PMID:2187872   PMID:7842743   PMID:8135774   PMID:8756762   PMID:8986622   PMID:9092299   PMID:9252349   PMID:9427527   PMID:10393435   PMID:10646805   PMID:12477932  
PMID:14702039   PMID:15065570   PMID:15146197   PMID:15489334   PMID:15609093   PMID:16129687   PMID:16344560   PMID:16421571   PMID:17960519   PMID:19136672   PMID:20379614   PMID:20551380  
PMID:21832049   PMID:21873635   PMID:22261194   PMID:22573329   PMID:22658674   PMID:22972947   PMID:23376485   PMID:23414517   PMID:24324551   PMID:25037231   PMID:25317112   PMID:25840998  
PMID:26186194   PMID:27068509   PMID:27173435   PMID:28327460   PMID:28514442   PMID:28675934   PMID:29507755   PMID:30021884   PMID:30862715   PMID:32393512   PMID:33957083   PMID:33961781  
PMID:34079125   PMID:34709727   PMID:35007762   PMID:36215168   PMID:36244648  


Genomics

Comparative Map Data
COL14A1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh388120,124,454 - 120,373,573 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl8120,059,780 - 120,373,573 (+)EnsemblGRCh38hg38GRCh38
GRCh378121,137,341 - 121,385,812 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368121,206,533 - 121,453,454 (+)NCBINCBI36Build 36hg18NCBI36
Celera8117,326,467 - 117,573,360 (+)NCBICelera
Cytogenetic Map8q24.12NCBI
HuRef8116,457,995 - 116,704,917 (+)NCBIHuRef
CHM1_18121,177,769 - 121,424,764 (+)NCBICHM1_1
T2T-CHM13v2.08121,253,115 - 121,502,333 (+)NCBIT2T-CHM13v2.0
Col14a1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391555,171,040 - 55,384,199 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1555,171,146 - 55,384,199 (+)EnsemblGRCm39 Ensembl
GRCm381555,307,644 - 55,520,803 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1555,307,750 - 55,520,803 (+)EnsemblGRCm38mm10GRCm38
MGSCv371555,139,305 - 55,352,358 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361555,137,834 - 55,350,884 (+)NCBIMGSCv36mm8
Celera1556,848,017 - 57,052,928 (+)NCBICelera
Cytogenetic Map15D1NCBI
cM Map1521.96NCBI
Col14a1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8788,611,827 - 88,826,939 (+)NCBIGRCr8
mRatBN7.2786,722,093 - 86,937,215 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl786,722,094 - 86,937,214 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx788,603,806 - 88,818,960 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0790,805,004 - 91,020,168 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0790,610,464 - 90,825,601 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0795,054,877 - 95,274,073 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl795,074,236 - 95,273,298 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0795,678,302 - 95,896,126 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4791,801,534 - 92,032,966 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1791,835,769 - 92,067,196 (+)NCBI
Celera783,515,260 - 83,730,170 (+)NCBICelera
Cytogenetic Map7q32NCBI
Col14a1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541725,579,547 - 25,774,127 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541725,579,547 - 25,774,067 (+)NCBIChiLan1.0ChiLan1.0
COL14A1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v27137,553,479 - 137,799,154 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan18113,065,502 - 113,312,629 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v08116,818,467 - 117,065,385 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.18119,588,512 - 119,834,226 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8119,610,929 - 119,831,880 (+)Ensemblpanpan1.1panPan2
COL14A1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11319,033,423 - 19,249,189 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1319,011,897 - 19,248,568 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1319,046,227 - 19,261,948 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01319,362,705 - 19,578,555 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1319,363,930 - 19,578,545 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11319,089,930 - 19,305,655 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01319,189,397 - 19,405,255 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01319,420,220 - 19,638,341 (+)NCBIUU_Cfam_GSD_1.0
Col14a1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530319,013,239 - 19,216,888 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647026,440,615 - 26,643,015 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647026,440,606 - 26,643,015 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
COL14A1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl418,690,198 - 18,924,971 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1418,690,197 - 18,925,111 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2419,715,672 - 19,949,740 (-)NCBISscrofa10.2Sscrofa10.2susScr3
COL14A1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18114,701,662 - 114,946,216 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl8114,701,664 - 114,887,483 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603925,334,593 - 25,585,541 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Col14a1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476317,982,646 - 18,172,904 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462476317,982,646 - 18,172,742 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in COL14A1
184 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_021110.4(COL14A1):c.4505C>T (p.Pro1502Leu) single nucleotide variant Variant of unknown significance [RCV000033021] Chr8:120313981 [GRCh38]
Chr8:121326220 [GRCh37]
Chr8:8q24.12		 uncertain significance
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 copy number gain See cases [RCV000050638] Chr8:113580402..145054634 [GRCh38]
Chr8:114592631..146280020 [GRCh37]
Chr8:114661807..146250824 [NCBI36]
Chr8:8q23.3-24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q23.3-24.21(chr8:113288454-126716087)x1 copy number loss See cases [RCV000054301] Chr8:113288454..126716087 [GRCh38]
Chr8:114300683..127728332 [GRCh37]
Chr8:114369859..127797514 [NCBI36]
Chr8:8q23.3-24.21		 pathogenic
GRCh38/hg38 8q24.11-24.13(chr8:118059192-121574437)x1 copy number loss See cases [RCV000054304] Chr8:118059192..121574437 [GRCh38]
Chr8:119071431..122586677 [GRCh37]
Chr8:119140612..122655858 [NCBI36]
Chr8:8q24.11-24.13		 pathogenic
NM_021110.2(COL14A1):c.540C>T (p.Phe180=) single nucleotide variant Malignant melanoma [RCV000068124] Chr8:120196894 [GRCh38]
Chr8:121209133 [GRCh37]
Chr8:121278314 [NCBI36]
Chr8:8q24.12		 not provided
NM_021110.2(COL14A1):c.922G>A (p.Glu308Lys) single nucleotide variant Malignant melanoma [RCV000068125] Chr8:120203753 [GRCh38]
Chr8:121215992 [GRCh37]
Chr8:121285173 [NCBI36]
Chr8:8q24.12		 not provided
NM_021110.2(COL14A1):c.960C>T (p.Phe320=) single nucleotide variant Malignant melanoma [RCV000068126] Chr8:120203791 [GRCh38]
Chr8:121216030 [GRCh37]
Chr8:121285211 [NCBI36]
Chr8:8q24.12		 not provided
NM_021110.2(COL14A1):c.1018G>A (p.Glu340Lys) single nucleotide variant Malignant melanoma [RCV000068127] Chr8:120203849 [GRCh38]
Chr8:121216088 [GRCh37]
Chr8:121285269 [NCBI36]
Chr8:8q24.12		 not provided
NM_021110.2(COL14A1):c.3311C>T (p.Ser1104Leu) single nucleotide variant Malignant melanoma [RCV000068128] Chr8:120278208 [GRCh38]
Chr8:121290447 [GRCh37]
Chr8:121359628 [NCBI36]
Chr8:8q24.12		 not provided
NM_021110.2(COL14A1):c.3434G>A (p.Arg1145Lys) single nucleotide variant Malignant melanoma [RCV000068129] Chr8:120278531 [GRCh38]
Chr8:121290770 [GRCh37]
Chr8:121359951 [NCBI36]
Chr8:8q24.12		 not provided
NM_021110.2(COL14A1):c.3738G>A (p.Val1246=) single nucleotide variant Malignant melanoma [RCV000068130] Chr8:120280973 [GRCh38]
Chr8:121293212 [GRCh37]
Chr8:121362393 [NCBI36]
Chr8:8q24.12		 not provided
NM_021110.2(COL14A1):c.4033G>A (p.Glu1345Lys) single nucleotide variant Malignant melanoma [RCV000068131] Chr8:120285926 [GRCh38]
Chr8:121298165 [GRCh37]
Chr8:121367346 [NCBI36]
Chr8:8q24.12		 not provided
NM_021110.2(COL14A1):c.4050G>A (p.Arg1350=) single nucleotide variant Malignant melanoma [RCV000068132] Chr8:120285943 [GRCh38]
Chr8:121298182 [GRCh37]
Chr8:121367363 [NCBI36]
Chr8:8q24.12		 not provided
NM_021110.2(COL14A1):c.4688G>A (p.Gly1563Glu) single nucleotide variant Malignant melanoma [RCV000068133] Chr8:120332169 [GRCh38]
Chr8:121344408 [GRCh37]
Chr8:121413589 [NCBI36]
Chr8:8q24.12		 not provided
NM_021110.2(COL14A1):c.4750G>A (p.Gly1584Arg) single nucleotide variant Malignant melanoma [RCV000068134] Chr8:120332700 [GRCh38]
Chr8:121344939 [GRCh37]
Chr8:121414120 [NCBI36]
Chr8:8q24.12		 not provided
NM_021110.2(COL14A1):c.349+269A>T single nucleotide variant Lung cancer [RCV000106984] Chr8:120162838 [GRCh38]
Chr8:121175077 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_021110.2(COL14A1):c.4888+975G>A single nucleotide variant Lung cancer [RCV000106985] Chr8:120343421 [GRCh38]
Chr8:121355660 [GRCh37]
Chr8:8q24.12		 uncertain significance
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3		 pathogenic
GRCh38/hg38 8q23.3-24.12(chr8:113418060-120975305)x1 copy number loss See cases [RCV000135291] Chr8:113418060..120975305 [GRCh38]
Chr8:114430289..121987545 [GRCh37]
Chr8:114499465..122056726 [NCBI36]
Chr8:8q23.3-24.12		 pathogenic
GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3 copy number gain See cases [RCV000135621] Chr8:86300584..137022587 [GRCh38]
Chr8:87312813..138034830 [GRCh37]
Chr8:87381929..138104012 [NCBI36]
Chr8:8q21.3-24.23		 pathogenic|likely pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q23.3-24.13(chr8:114560780-122594102)x1 copy number loss See cases [RCV000139027] Chr8:114560780..122594102 [GRCh38]
Chr8:115573009..123606341 [GRCh37]
Chr8:115642185..123675522 [NCBI36]
Chr8:8q23.3-24.13		 pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3		 pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3		 pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3		 pathogenic
GRCh38/hg38 8q23.3-24.13(chr8:113933305-122621741)x1 copy number loss See cases [RCV000140680] Chr8:113933305..122621741 [GRCh38]
Chr8:114945534..123633980 [GRCh37]
Chr8:115014710..123703161 [NCBI36]
Chr8:8q23.3-24.13		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3		 pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3		 pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3		 pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3		 pathogenic
GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2 copy number gain See cases [RCV002292707] Chr8:68912432..146295771 [GRCh37]
Chr8:8q13.2-24.3		 pathogenic
NM_021110.4(COL14A1):c.3083C>T (p.Ala1028Val) single nucleotide variant Inborn genetic diseases [RCV003245688] Chr8:120270044 [GRCh38]
Chr8:121282283 [GRCh37]
Chr8:8q24.12		 uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_021110.4(COL14A1):c.676C>T (p.Arg226Ter) single nucleotide variant not provided [RCV000438618] Chr8:120197894 [GRCh38]
Chr8:121210133 [GRCh37]
Chr8:8q24.12		 uncertain significance
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3 copy number gain See cases [RCV000511761] Chr8:93047482..141355635 [GRCh37]
Chr8:8q21.3-24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3		 pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3 copy number gain See cases [RCV000510854] Chr8:86841228..142689874 [GRCh37]
Chr8:8q21.2-24.3		 pathogenic
NM_021110.4(COL14A1):c.1960C>G (p.His654Asp) single nucleotide variant Inborn genetic diseases [RCV003248934] Chr8:120226722 [GRCh38]
Chr8:121238961 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_021110.4(COL14A1):c.2060C>T (p.Thr687Met) single nucleotide variant Inborn genetic diseases [RCV003256263] Chr8:120227275 [GRCh38]
Chr8:121239514 [GRCh37]
Chr8:8q24.12		 uncertain significance
GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3 copy number gain See cases [RCV000512401] Chr8:114853126..146295771 [GRCh37]
Chr8:8q23.3-24.3		 pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3		 pathogenic
GRCh37/hg19 8q23.1-24.13(chr8:110250943-123515785)x1 copy number loss not provided [RCV000683038] Chr8:110250943..123515785 [GRCh37]
Chr8:8q23.1-24.13		 pathogenic
Single allele deletion Trichorhinophalangeal dysplasia type I [RCV000735900] Chr8:114508086..129040004 [GRCh37]
Chr8:8q23.3-24.21		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_021110.4(COL14A1):c.4888+277G>A single nucleotide variant not provided [RCV001691423] Chr8:120342723 [GRCh38]
Chr8:121354962 [GRCh37]
Chr8:8q24.12		 benign
NM_021110.4(COL14A1):c.1737+294T>G single nucleotide variant not provided [RCV001691198] Chr8:120216784 [GRCh38]
Chr8:121229023 [GRCh37]
Chr8:8q24.12		 benign
NM_021110.4(COL14A1):c.1191+264A>T single nucleotide variant not provided [RCV001667214] Chr8:120207358 [GRCh38]
Chr8:121219597 [GRCh37]
Chr8:8q24.12		 benign
NM_021110.4(COL14A1):c.3825-131T>C single nucleotide variant not provided [RCV001708103] Chr8:120283505 [GRCh38]
Chr8:121295744 [GRCh37]
Chr8:8q24.12		 benign
NM_021110.4(COL14A1):c.1040-215T>C single nucleotide variant not provided [RCV001681756] Chr8:120206728 [GRCh38]
Chr8:121218967 [GRCh37]
Chr8:8q24.12		 benign
NM_021110.4(COL14A1):c.3647-145G>C single nucleotide variant not provided [RCV001680860] Chr8:120280566 [GRCh38]
Chr8:121292805 [GRCh37]
Chr8:8q24.12		 benign
NM_021110.4(COL14A1):c.2880G>C (p.Lys960Asn) single nucleotide variant Inborn genetic diseases [RCV003267560] Chr8:120262878 [GRCh38]
Chr8:121275117 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_021110.4(COL14A1):c.713-72G>A single nucleotide variant not provided [RCV001641688] Chr8:120199330 [GRCh38]
Chr8:121211569 [GRCh37]
Chr8:8q24.12		 benign
NM_021110.4(COL14A1):c.2603-81A>G single nucleotide variant not provided [RCV001678936] Chr8:120250536 [GRCh38]
Chr8:121262775 [GRCh37]
Chr8:8q24.12		 benign
NM_021110.4(COL14A1):c.16C>T (p.Arg6Cys) single nucleotide variant not provided [RCV000885198] Chr8:120147858 [GRCh38]
Chr8:121160097 [GRCh37]
Chr8:8q24.12		 likely benign
NM_021110.4(COL14A1):c.2564C>T (p.Pro855Leu) single nucleotide variant not provided [RCV000885199] Chr8:120247697 [GRCh38]
Chr8:121259936 [GRCh37]
Chr8:8q24.12		 benign
NM_021110.4(COL14A1):c.3525G>A (p.Ser1175=) single nucleotide variant not provided [RCV000881358] Chr8:120279978 [GRCh38]
Chr8:121292217 [GRCh37]
Chr8:8q24.12		 benign
NM_021110.4(COL14A1):c.2530C>T (p.Arg844Trp) single nucleotide variant not provided [RCV000973028] Chr8:120247663 [GRCh38]
Chr8:121259902 [GRCh37]
Chr8:8q24.12		 likely benign
NM_021110.4(COL14A1):c.1880A>C (p.Gln627Pro) single nucleotide variant not provided [RCV000947130] Chr8:120226642 [GRCh38]
Chr8:121238881 [GRCh37]
Chr8:8q24.12		 benign
NM_021110.4(COL14A1):c.4824T>C (p.Gly1608=) single nucleotide variant not provided [RCV000947131] Chr8:120342382 [GRCh38]
Chr8:121354621 [GRCh37]
Chr8:8q24.12		 benign
NM_021110.4(COL14A1):c.1737+9C>T single nucleotide variant not provided [RCV000897502] Chr8:120216499 [GRCh38]
Chr8:121228738 [GRCh37]
Chr8:8q24.12		 likely benign
NM_021110.4(COL14A1):c.1373G>A (p.Ser458Asn) single nucleotide variant not provided [RCV000966372] Chr8:120209807 [GRCh38]
Chr8:121222046 [GRCh37]
Chr8:8q24.12		 likely benign
NM_021110.4(COL14A1):c.4518A>G (p.Gln1506=) single nucleotide variant not provided [RCV000904735] Chr8:120313994 [GRCh38]
Chr8:121326233 [GRCh37]
Chr8:8q24.12		 benign
NM_021110.4(COL14A1):c.4128G>A (p.Lys1376=) single nucleotide variant not provided [RCV000925426] Chr8:120289658 [GRCh38]
Chr8:121301897 [GRCh37]
Chr8:8q24.12		 likely benign
NM_021110.4(COL14A1):c.275A>G (p.Asp92Gly) single nucleotide variant not provided [RCV000897053] Chr8:120162495 [GRCh38]
Chr8:121174734 [GRCh37]
Chr8:8q24.12		 benign
NM_021110.4(COL14A1):c.3171C>T (p.Ser1057=) single nucleotide variant not provided [RCV000965781] Chr8:120270132 [GRCh38]
Chr8:121282371 [GRCh37]
Chr8:8q24.12		 benign
NM_021110.4(COL14A1):c.2603-10T>C single nucleotide variant not provided [RCV000903530] Chr8:120250607 [GRCh38]
Chr8:121262846 [GRCh37]
Chr8:8q24.12		 likely benign
NM_021110.4(COL14A1):c.904C>T (p.Leu302=) single nucleotide variant not provided [RCV000965083] Chr8:120203735 [GRCh38]
Chr8:121215974 [GRCh37]
Chr8:8q24.12		 benign
NM_021110.4(COL14A1):c.4860G>A (p.Ala1620=) single nucleotide variant not provided [RCV000923442] Chr8:120342418 [GRCh38]
Chr8:121354657 [GRCh37]
Chr8:8q24.12		 benign
NM_021110.4(COL14A1):c.147A>G (p.Ser49=) single nucleotide variant not provided [RCV000924116] Chr8:120158188 [GRCh38]
Chr8:121170427 [GRCh37]
Chr8:8q24.12		 benign
NM_021110.4(COL14A1):c.3407A>G (p.Lys1136Arg) single nucleotide variant not provided [RCV000961156] Chr8:120278504 [GRCh38]
Chr8:121290743 [GRCh37]
Chr8:8q24.12		 benign
NM_021110.4(COL14A1):c.2061G>A (p.Thr687=) single nucleotide variant not provided [RCV000954177] Chr8:120227276 [GRCh38]
Chr8:121239515 [GRCh37]
Chr8:8q24.12		 benign
NM_021110.4(COL14A1):c.3565G>A (p.Val1189Ile) single nucleotide variant not provided [RCV000954178] Chr8:120280018 [GRCh38]
Chr8:121292257 [GRCh37]
Chr8:8q24.12		 benign
NM_021110.4(COL14A1):c.4486C>T (p.Leu1496=) single nucleotide variant not provided [RCV000880265] Chr8:120313962 [GRCh38]
Chr8:121326201 [GRCh37]
Chr8:8q24.12		 likely benign
NM_021110.4(COL14A1):c.5312-6C>T single nucleotide variant not provided [RCV000892612] Chr8:120371146 [GRCh38]
Chr8:121383385 [GRCh37]
Chr8:8q24.12		 benign
NM_021110.4(COL14A1):c.342A>G (p.Gln114=) single nucleotide variant not provided [RCV000893308] Chr8:120162562 [GRCh38]
Chr8:121174801 [GRCh37]
Chr8:8q24.12		 benign
NM_021110.4(COL14A1):c.834A>G (p.Pro278=) single nucleotide variant not provided [RCV000963913] Chr8:120199523 [GRCh38]
Chr8:121211762 [GRCh37]
Chr8:8q24.12		 benign|likely benign
GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3 copy number gain not provided [RCV001006140] Chr8:121042467..146295771 [GRCh37]
Chr8:8q24.12-24.3		 pathogenic
GRCh37/hg19 8q23.2-24.13(chr8:111514791-123192373)x1 copy number loss not provided [RCV001006131] Chr8:111514791..123192373 [GRCh37]
Chr8:8q23.2-24.13		 pathogenic
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_021110.4(COL14A1):c.4472G>A (p.Arg1491Gln) single nucleotide variant Inborn genetic diseases [RCV003270029] Chr8:120313948 [GRCh38]
Chr8:121326187 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_021110.4(COL14A1):c.152A>G (p.Lys51Arg) single nucleotide variant Inborn genetic diseases [RCV003290593] Chr8:120158193 [GRCh38]
Chr8:121170432 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_021110.4(COL14A1):c.4713+28A>G single nucleotide variant not provided [RCV001665071] Chr8:120332222 [GRCh38]
Chr8:121344461 [GRCh37]
Chr8:8q24.12		 benign
NM_021110.4(COL14A1):c.3337+100T>A single nucleotide variant not provided [RCV001619208] Chr8:120278334 [GRCh38]
Chr8:121290573 [GRCh37]
Chr8:8q24.12		 benign
NM_021110.4(COL14A1):c.2480-173dup duplication not provided [RCV001655346] Chr8:120247429..120247430 [GRCh38]
Chr8:121259668..121259669 [GRCh37]
Chr8:8q24.12		 benign
NM_021110.4(COL14A1):c.877+42C>T single nucleotide variant not provided [RCV001671275] Chr8:120199608 [GRCh38]
Chr8:121211847 [GRCh37]
Chr8:8q24.12		 benign
NM_021110.4(COL14A1):c.2349+209C>T single nucleotide variant not provided [RCV001671731] Chr8:120231827 [GRCh38]
Chr8:121244066 [GRCh37]
Chr8:8q24.12		 benign
NM_021110.4(COL14A1):c.2752+71T>C single nucleotide variant not provided [RCV001645617] Chr8:120250837 [GRCh38]
Chr8:121263076 [GRCh37]
Chr8:8q24.12		 benign
NM_021110.4(COL14A1):c.2870-256A>C single nucleotide variant not provided [RCV001685142] Chr8:120262612 [GRCh38]
Chr8:121274851 [GRCh37]
Chr8:8q24.12		 benign
NM_021110.4(COL14A1):c.4314+275C>T single nucleotide variant not provided [RCV001692928] Chr8:120297863 [GRCh38]
Chr8:121310102 [GRCh37]
Chr8:8q24.12		 benign
NM_021110.4(COL14A1):c.205+318G>A single nucleotide variant not provided [RCV001618159] Chr8:120158564 [GRCh38]
Chr8:121170803 [GRCh37]
Chr8:8q24.12		 benign
NM_021110.4(COL14A1):c.2480-174_2480-173dup duplication not provided [RCV001657433] Chr8:120247429..120247430 [GRCh38]
Chr8:121259668..121259669 [GRCh37]
Chr8:8q24.12		 benign
NM_021110.4(COL14A1):c.3968-54C>A single nucleotide variant not provided [RCV001663170] Chr8:120285807 [GRCh38]
Chr8:121298046 [GRCh37]
Chr8:8q24.12		 benign
NM_021110.4(COL14A1):c.3824+78A>G single nucleotide variant not provided [RCV001687484] Chr8:120281137 [GRCh38]
Chr8:121293376 [GRCh37]
Chr8:8q24.12		 benign
NM_021110.4(COL14A1):c.3967+148G>A single nucleotide variant not provided [RCV001649762] Chr8:120283926 [GRCh38]
Chr8:121296165 [GRCh37]
Chr8:8q24.12		 benign
NM_021110.4(COL14A1):c.2349+232G>T single nucleotide variant not provided [RCV001670268] Chr8:120231850 [GRCh38]
Chr8:121244089 [GRCh37]
Chr8:8q24.12		 benign
NM_021110.4(COL14A1):c.-37-178C>T single nucleotide variant not provided [RCV001595715] Chr8:120147628 [GRCh38]
Chr8:121159867 [GRCh37]
Chr8:8q24.12		 benign
NM_021110.4(COL14A1):c.2138-137G>A single nucleotide variant not provided [RCV001653414] Chr8:120228573 [GRCh38]
Chr8:121240812 [GRCh37]
Chr8:8q24.12		 benign
NM_021110.4(COL14A1):c.3481+95G>A single nucleotide variant not provided [RCV001614489] Chr8:120278673 [GRCh38]
Chr8:121290912 [GRCh37]
Chr8:8q24.12		 benign
NM_021110.4(COL14A1):c.1865-320del deletion not provided [RCV001708362] Chr8:120226305 [GRCh38]
Chr8:121238544 [GRCh37]
Chr8:8q24.12		 benign
NM_021110.4(COL14A1):c.4668G>A (p.Pro1556=) single nucleotide variant not provided [RCV000905400] Chr8:120332149 [GRCh38]
Chr8:121344388 [GRCh37]
Chr8:8q24.12		 benign
NM_021110.4(COL14A1):c.2230G>A (p.Gly744Ser) single nucleotide variant not provided [RCV000952934] Chr8:120231499 [GRCh38]
Chr8:121243738 [GRCh37]
Chr8:8q24.12		 benign
NM_021110.4(COL14A1):c.1581G>A (p.Thr527=) single nucleotide variant not provided [RCV000923399] Chr8:120212561 [GRCh38]
Chr8:121224800 [GRCh37]
Chr8:8q24.12		 benign|likely benign
NM_021110.4(COL14A1):c.1188C>T (p.Asp396=) single nucleotide variant not provided [RCV000933259] Chr8:120207091 [GRCh38]
Chr8:121219330 [GRCh37]
Chr8:8q24.12		 likely benign
NM_021110.4(COL14A1):c.448G>C (p.Val150Leu) single nucleotide variant not provided [RCV000952559] Chr8:120196802 [GRCh38]
Chr8:121209041 [GRCh37]
Chr8:8q24.12		 benign
NM_021110.4(COL14A1):c.2550C>T (p.Asp850=) single nucleotide variant not provided [RCV000952560] Chr8:120247683 [GRCh38]
Chr8:121259922 [GRCh37]
Chr8:8q24.12		 benign
NM_021110.4(COL14A1):c.2764G>A (p.Val922Ile) single nucleotide variant not provided [RCV000955396] Chr8:120255251 [GRCh38]
Chr8:121267490 [GRCh37]
Chr8:8q24.12		 likely benign
NM_021110.4(COL14A1):c.1562A>C (p.Glu521Ala) single nucleotide variant not provided [RCV000904285] Chr8:120212542 [GRCh38]
Chr8:121224781 [GRCh37]
Chr8:8q24.12		 likely benign
NM_021110.4(COL14A1):c.4809A>G (p.Glu1603=) single nucleotide variant not provided [RCV000973427] Chr8:120341348 [GRCh38]
Chr8:121353587 [GRCh37]
Chr8:8q24.12		 benign
NM_021110.4(COL14A1):c.570G>A (p.Val190=) single nucleotide variant not provided [RCV000917856] Chr8:120196924 [GRCh38]
Chr8:121209163 [GRCh37]
Chr8:8q24.12		 likely benign
NM_021110.4(COL14A1):c.2724C>T (p.Ser908=) single nucleotide variant not provided [RCV000912800] Chr8:120250738 [GRCh38]
Chr8:121262977 [GRCh37]
Chr8:8q24.12		 likely benign
NM_021110.4(COL14A1):c.2869+134A>G single nucleotide variant not provided [RCV001539534] Chr8:120255490 [GRCh38]
Chr8:121267729 [GRCh37]
Chr8:8q24.12		 benign
NM_021110.4(COL14A1):c.712+81C>T single nucleotide variant not provided [RCV001597598] Chr8:120198011 [GRCh38]
Chr8:121210250 [GRCh37]
Chr8:8q24.12		 benign
NM_021110.4(COL14A1):c.4821+283G>C single nucleotide variant not provided [RCV001613477] Chr8:120341643 [GRCh38]
Chr8:121353882 [GRCh37]
Chr8:8q24.12		 benign
NM_021110.4(COL14A1):c.4714-59T>G single nucleotide variant not provided [RCV001721757] Chr8:120332605 [GRCh38]
Chr8:121344844 [GRCh37]
Chr8:8q24.12		 benign
NM_021110.4(COL14A1):c.2752+127C>T single nucleotide variant not provided [RCV001655939] Chr8:120250893 [GRCh38]
Chr8:121263132 [GRCh37]
Chr8:8q24.12		 benign
NM_021110.4(COL14A1):c.4822-113G>A single nucleotide variant not provided [RCV001688910] Chr8:120342267 [GRCh38]
Chr8:121354506 [GRCh37]
Chr8:8q24.12		 benign
NM_021110.4(COL14A1):c.4822-290T>C single nucleotide variant not provided [RCV001620058] Chr8:120342090 [GRCh38]
Chr8:121354329 [GRCh37]
Chr8:8q24.12		 benign
NM_021110.4(COL14A1):c.4786-148G>A single nucleotide variant not provided [RCV001649309] Chr8:120341177 [GRCh38]
Chr8:121353416 [GRCh37]
Chr8:8q24.12		 benign
NM_021110.4(COL14A1):c.3214-305A>T single nucleotide variant not provided [RCV001620163] Chr8:120277806 [GRCh38]
Chr8:121290045 [GRCh37]
Chr8:8q24.12		 benign
GRCh37/hg19 8q24.11-24.12(chr8:118645068-121684174)x1 copy number loss not provided [RCV002472649] Chr8:118645068..121684174 [GRCh37]
Chr8:8q24.11-24.12		 pathogenic
NM_021110.4(COL14A1):c.436+181C>T single nucleotide variant not provided [RCV001677475] Chr8:120168428 [GRCh38]
Chr8:121180667 [GRCh37]
Chr8:8q24.12		 benign
NM_021110.4(COL14A1):c.4714-153G>A single nucleotide variant not provided [RCV001688513] Chr8:120332511 [GRCh38]
Chr8:121344750 [GRCh37]
Chr8:8q24.12		 benign
NM_021110.4(COL14A1):c.4888+166G>A single nucleotide variant not provided [RCV001639244] Chr8:120342612 [GRCh38]
Chr8:121354851 [GRCh37]
Chr8:8q24.12		 benign
NM_021110.4(COL14A1):c.612T>C (p.Gly204=) single nucleotide variant not provided [RCV001637387] Chr8:120197830 [GRCh38]
Chr8:121210069 [GRCh37]
Chr8:8q24.12		 benign
NM_021110.4(COL14A1):c.4659+147_4659+148insT insertion not provided [RCV001655318] Chr8:120316144..120316145 [GRCh38]
Chr8:121328383..121328384 [GRCh37]
Chr8:8q24.12		 benign
NM_021110.4(COL14A1):c.4821+93A>T single nucleotide variant not provided [RCV001675361] Chr8:120341453 [GRCh38]
Chr8:121353692 [GRCh37]
Chr8:8q24.12		 benign
NM_021110.4(COL14A1):c.4660-294T>C single nucleotide variant not provided [RCV001617077] Chr8:120331847 [GRCh38]
Chr8:121344086 [GRCh37]
Chr8:8q24.12		 benign
NM_021110.4(COL14A1):c.1687A>C (p.Asn563His) single nucleotide variant not provided [RCV001540440] Chr8:120216440 [GRCh38]
Chr8:121228679 [GRCh37]
Chr8:8q24.12		 benign
NM_021110.4(COL14A1):c.3214-244T>C single nucleotide variant not provided [RCV001689091] Chr8:120277867 [GRCh38]
Chr8:121290106 [GRCh37]
Chr8:8q24.12		 benign
NM_021110.4(COL14A1):c.349+29C>G single nucleotide variant not provided [RCV001661197] Chr8:120162598 [GRCh38]
Chr8:121174837 [GRCh37]
Chr8:8q24.12		 benign
NM_021110.4(COL14A1):c.5156-232G>C single nucleotide variant not provided [RCV001677571] Chr8:120369098 [GRCh38]
Chr8:121381337 [GRCh37]
Chr8:8q24.12		 benign
NM_021110.4(COL14A1):c.89-169G>T single nucleotide variant not provided [RCV001598062] Chr8:120157961 [GRCh38]
Chr8:121170200 [GRCh37]
Chr8:8q24.12		 benign
NM_021110.4(COL14A1):c.4237-71A>T single nucleotide variant not provided [RCV001663314] Chr8:120297440 [GRCh38]
Chr8:121309679 [GRCh37]
Chr8:8q24.12		 benign
NM_021110.4(COL14A1):c.2602+46T>G single nucleotide variant not provided [RCV001698706] Chr8:120247781 [GRCh38]
Chr8:121260020 [GRCh37]
Chr8:8q24.12		 benign
NM_021110.4(COL14A1):c.3686-4_3686-3del deletion not provided [RCV001709978] Chr8:120280904..120280905 [GRCh38]
Chr8:121293143..121293144 [GRCh37]
Chr8:8q24.12		 benign
NM_021110.4(COL14A1):c.436+178G>A single nucleotide variant not provided [RCV001594620] Chr8:120168425 [GRCh38]
Chr8:121180664 [GRCh37]
Chr8:8q24.12		 benign
NM_021110.4(COL14A1):c.2480-9T>C single nucleotide variant not provided [RCV001614690] Chr8:120247604 [GRCh38]
Chr8:121259843 [GRCh37]
Chr8:8q24.12		 benign
NM_021110.4(COL14A1):c.2350-195_2350-189del deletion not provided [RCV001678209] Chr8:120243684..120243690 [GRCh38]
Chr8:121255923..121255929 [GRCh37]
Chr8:8q24.12		 benign
NM_021110.4(COL14A1):c.921T>C (p.Ser307=) single nucleotide variant not provided [RCV001637857] Chr8:120203752 [GRCh38]
Chr8:121215991 [GRCh37]
Chr8:8q24.12		 benign
NM_021110.4(COL14A1):c.1322-124C>G single nucleotide variant not provided [RCV001620650] Chr8:120209632 [GRCh38]
Chr8:121221871 [GRCh37]
Chr8:8q24.12		 benign
NM_021110.4(COL14A1):c.4551+161G>T single nucleotide variant not provided [RCV001673644] Chr8:120314188 [GRCh38]
Chr8:121326427 [GRCh37]
Chr8:8q24.12		 benign
NM_021110.4(COL14A1):c.3646+69G>A single nucleotide variant not provided [RCV001638484] Chr8:120280168 [GRCh38]
Chr8:121292407 [GRCh37]
Chr8:8q24.12		 benign
NM_021110.4(COL14A1):c.437-30A>C single nucleotide variant not provided [RCV001670752] Chr8:120196761 [GRCh38]
Chr8:121209000 [GRCh37]
Chr8:8q24.12		 benign
NM_021110.4(COL14A1):c.2869+141A>G single nucleotide variant not provided [RCV001614885] Chr8:120255497 [GRCh38]
Chr8:121267736 [GRCh37]
Chr8:8q24.12		 benign
NM_021110.4(COL14A1):c.3824+33G>A single nucleotide variant not provided [RCV001684439] Chr8:120281092 [GRCh38]
Chr8:121293331 [GRCh37]
Chr8:8q24.12		 benign
NM_021110.4(COL14A1):c.3647-3C>T single nucleotide variant not provided [RCV001647680] Chr8:120280708 [GRCh38]
Chr8:121292947 [GRCh37]
Chr8:8q24.12		 benign
NM_021110.4(COL14A1):c.4821+52A>G single nucleotide variant not provided [RCV001713150] Chr8:120341412 [GRCh38]
Chr8:121353651 [GRCh37]
Chr8:8q24.12		 benign
NM_021110.4(COL14A1):c.2382T>C (p.Leu794=) single nucleotide variant not provided [RCV001667272] Chr8:120243911 [GRCh38]
Chr8:121256150 [GRCh37]
Chr8:8q24.12		 benign
NM_021110.4(COL14A1):c.4552-143_4552-140del deletion not provided [RCV001709414] Chr8:120315370..120315373 [GRCh38]
Chr8:121327609..121327612 [GRCh37]
Chr8:8q24.12		 benign
NM_021110.4(COL14A1):c.1865-320T>A single nucleotide variant not provided [RCV001611089] Chr8:120226307 [GRCh38]
Chr8:121238546 [GRCh37]
Chr8:8q24.12		 benign
NM_021110.4(COL14A1):c.4077+167T>C single nucleotide variant not provided [RCV001694499] Chr8:120286137 [GRCh38]
Chr8:121298376 [GRCh37]
Chr8:8q24.12		 benign
NM_021110.4(COL14A1):c.206-103del deletion not provided [RCV001612174] Chr8:120162323 [GRCh38]
Chr8:121174562 [GRCh37]
Chr8:8q24.12		 benign
NM_021110.4(COL14A1):c.1192-76G>A single nucleotide variant not provided [RCV001690107] Chr8:120208156 [GRCh38]
Chr8:121220395 [GRCh37]
Chr8:8q24.12		 benign
NM_021110.4(COL14A1):c.2869+22C>T single nucleotide variant not provided [RCV001694694] Chr8:120255378 [GRCh38]
Chr8:121267617 [GRCh37]
Chr8:8q24.12		 benign
NM_021110.4(COL14A1):c.4314+35A>T single nucleotide variant not provided [RCV001616495] Chr8:120297623 [GRCh38]
Chr8:121309862 [GRCh37]
Chr8:8q24.12		 benign
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) copy number gain Polydactyly [RCV002280629] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q23.1-24.13(chr8:108421573-123429638)x3 copy number gain not provided [RCV001259025] Chr8:108421573..123429638 [GRCh37]
Chr8:8q23.1-24.13		 pathogenic
NM_021110.4(COL14A1):c.3967+28A>G single nucleotide variant not provided [RCV001686002] Chr8:120283806 [GRCh38]
Chr8:121296045 [GRCh37]
Chr8:8q24.12		 benign
NM_021110.4(COL14A1):c.2490G>A (p.Ser830=) single nucleotide variant not provided [RCV001725510] Chr8:120247623 [GRCh38]
Chr8:121259862 [GRCh37]
Chr8:8q24.12		 benign
NM_021110.4(COL14A1):c.4551+207A>G single nucleotide variant not provided [RCV001686610] Chr8:120314234 [GRCh38]
Chr8:121326473 [GRCh37]
Chr8:8q24.12		 benign
NM_021110.4(COL14A1):c.2752+120A>C single nucleotide variant not provided [RCV001673682] Chr8:120250886 [GRCh38]
Chr8:121263125 [GRCh37]
Chr8:8q24.12		 benign
NM_021110.4(COL14A1):c.4822-114G>A single nucleotide variant not provided [RCV001687772] Chr8:120342266 [GRCh38]
Chr8:121354505 [GRCh37]
Chr8:8q24.12		 benign
NM_021110.4(COL14A1):c.2138-303G>A single nucleotide variant not provided [RCV001653252] Chr8:120228407 [GRCh38]
Chr8:121240646 [GRCh37]
Chr8:8q24.12		 benign
NM_021110.4(COL14A1):c.592+206C>T single nucleotide variant not provided [RCV001698615] Chr8:120197152 [GRCh38]
Chr8:121209391 [GRCh37]
Chr8:8q24.12		 benign
NM_021110.4(COL14A1):c.4552-99C>T single nucleotide variant not provided [RCV001681166] Chr8:120315434 [GRCh38]
Chr8:121327673 [GRCh37]
Chr8:8q24.12		 benign
NM_021110.4(COL14A1):c.3017-285A>G single nucleotide variant not provided [RCV001688198] Chr8:120266542 [GRCh38]
Chr8:121278781 [GRCh37]
Chr8:8q24.12		 benign
NM_021110.4(COL14A1):c.2083G>A (p.Ala695Thr) single nucleotide variant Inborn genetic diseases [RCV003252276] Chr8:120227298 [GRCh38]
Chr8:121239537 [GRCh37]
Chr8:8q24.12		 uncertain significance
GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3 copy number gain See cases [RCV002285066] Chr8:84712253..146295771 [GRCh37]
Chr8:8q21.2-24.3		 pathogenic
NM_021110.4(COL14A1):c.2636C>T (p.Ala879Val) single nucleotide variant Inborn genetic diseases [RCV003295229] Chr8:120250650 [GRCh38]
Chr8:121262889 [GRCh37]
Chr8:8q24.12		 uncertain significance
GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771) copy number gain not specified [RCV002053772] Chr8:70382990..146295771 [GRCh37]
Chr8:8q13.2-24.3		 pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:96496503-146295711) copy number gain not provided [RCV002221452] Chr8:96496503..146295711 [GRCh37]
Chr8:8q22.1-24.3		 pathogenic
GRCh37/hg19 8q23.3-24.22(chr8:112234557-133668379)x1 copy number loss not provided [RCV002474553] Chr8:112234557..133668379 [GRCh37]
Chr8:8q23.3-24.22		 pathogenic
GRCh37/hg19 8q24.12(chr8:121114579-121321968)x1 copy number loss not provided [RCV002473758] Chr8:121114579..121321968 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_021110.4(COL14A1):c.1022A>G (p.Gln341Arg) single nucleotide variant Inborn genetic diseases [RCV003307341] Chr8:120203853 [GRCh38]
Chr8:121216092 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_021110.4(COL14A1):c.5056C>A (p.Pro1686Thr) single nucleotide variant Inborn genetic diseases [RCV002752288] Chr8:120345542 [GRCh38]
Chr8:121357781 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_021110.4(COL14A1):c.5010A>C (p.Glu1670Asp) single nucleotide variant Inborn genetic diseases [RCV002836941] Chr8:120345496 [GRCh38]
Chr8:121357735 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_021110.4(COL14A1):c.2555C>T (p.Pro852Leu) single nucleotide variant Inborn genetic diseases [RCV002686804] Chr8:120247688 [GRCh38]
Chr8:121259927 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_021110.4(COL14A1):c.4112T>C (p.Val1371Ala) single nucleotide variant Inborn genetic diseases [RCV002793971] Chr8:120289642 [GRCh38]
Chr8:121301881 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_021110.4(COL14A1):c.701A>G (p.Asn234Ser) single nucleotide variant Inborn genetic diseases [RCV002907476] Chr8:120197919 [GRCh38]
Chr8:121210158 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_021110.4(COL14A1):c.2749A>C (p.Thr917Pro) single nucleotide variant Inborn genetic diseases [RCV002778485] Chr8:120250763 [GRCh38]
Chr8:121263002 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_021110.4(COL14A1):c.3479A>G (p.Asp1160Gly) single nucleotide variant Inborn genetic diseases [RCV002997076] Chr8:120278576 [GRCh38]
Chr8:121290815 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_021110.4(COL14A1):c.3151A>T (p.Ile1051Phe) single nucleotide variant Inborn genetic diseases [RCV002864715] Chr8:120270112 [GRCh38]
Chr8:121282351 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_021110.4(COL14A1):c.1453G>C (p.Gly485Arg) single nucleotide variant Inborn genetic diseases [RCV002749377] Chr8:120209887 [GRCh38]
Chr8:121222126 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_021110.4(COL14A1):c.946A>G (p.Asn316Asp) single nucleotide variant Inborn genetic diseases [RCV002973884] Chr8:120203777 [GRCh38]
Chr8:121216016 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_021110.4(COL14A1):c.1188C>A (p.Asp396Glu) single nucleotide variant Inborn genetic diseases [RCV002727686] Chr8:120207091 [GRCh38]
Chr8:121219330 [GRCh37]
Chr8:8q24.12		 likely benign
NM_021110.4(COL14A1):c.3306C>A (p.His1102Gln) single nucleotide variant Inborn genetic diseases [RCV002859183] Chr8:120278203 [GRCh38]
Chr8:121290442 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_021110.4(COL14A1):c.4532T>C (p.Leu1511Pro) single nucleotide variant Inborn genetic diseases [RCV002818109] Chr8:120314008 [GRCh38]
Chr8:121326247 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_021110.4(COL14A1):c.4799C>A (p.Ala1600Glu) single nucleotide variant Inborn genetic diseases [RCV002844060] Chr8:120341338 [GRCh38]
Chr8:121353577 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_021110.4(COL14A1):c.524G>C (p.Arg175Thr) single nucleotide variant Inborn genetic diseases [RCV002887583] Chr8:120196878 [GRCh38]
Chr8:121209117 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_021110.4(COL14A1):c.5141C>A (p.Pro1714His) single nucleotide variant Inborn genetic diseases [RCV002888826] Chr8:120367234 [GRCh38]
Chr8:121379473 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_021110.4(COL14A1):c.3067A>G (p.Lys1023Glu) single nucleotide variant Inborn genetic diseases [RCV002891260] Chr8:120266877 [GRCh38]
Chr8:121279116 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_021110.4(COL14A1):c.4343C>G (p.Pro1448Arg) single nucleotide variant Inborn genetic diseases [RCV002850774] Chr8:120300760 [GRCh38]
Chr8:121312999 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_021110.4(COL14A1):c.3283A>G (p.Thr1095Ala) single nucleotide variant Inborn genetic diseases [RCV002930103] Chr8:120278180 [GRCh38]
Chr8:121290419 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_021110.4(COL14A1):c.59T>C (p.Val20Ala) single nucleotide variant Inborn genetic diseases [RCV002802861] Chr8:120147901 [GRCh38]
Chr8:121160140 [GRCh37]
Chr8:8q24.12		 likely benign
NM_021110.4(COL14A1):c.319G>A (p.Glu107Lys) single nucleotide variant Inborn genetic diseases [RCV002954828] Chr8:120162539 [GRCh38]
Chr8:121174778 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_021110.4(COL14A1):c.3188A>G (p.Asn1063Ser) single nucleotide variant Inborn genetic diseases [RCV002744616] Chr8:120270149 [GRCh38]
Chr8:121282388 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_021110.4(COL14A1):c.3341A>G (p.Lys1114Arg) single nucleotide variant Inborn genetic diseases [RCV002965692] Chr8:120278438 [GRCh38]
Chr8:121290677 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_021110.4(COL14A1):c.374A>T (p.Asp125Val) single nucleotide variant Inborn genetic diseases [RCV002669299] Chr8:120168185 [GRCh38]
Chr8:121180424 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_021110.4(COL14A1):c.3220A>T (p.Met1074Leu) single nucleotide variant Inborn genetic diseases [RCV002808289] Chr8:120278117 [GRCh38]
Chr8:121290356 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_021110.4(COL14A1):c.2679G>T (p.Met893Ile) single nucleotide variant Inborn genetic diseases [RCV002719910] Chr8:120250693 [GRCh38]
Chr8:121262932 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_021110.4(COL14A1):c.4895T>C (p.Met1632Thr) single nucleotide variant Inborn genetic diseases [RCV002807578] Chr8:120345381 [GRCh38]
Chr8:121357620 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_021110.4(COL14A1):c.1985A>G (p.Tyr662Cys) single nucleotide variant Inborn genetic diseases [RCV002897426] Chr8:120226747 [GRCh38]
Chr8:121238986 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_021110.4(COL14A1):c.3377C>A (p.Ala1126Glu) single nucleotide variant Inborn genetic diseases [RCV002678034] Chr8:120278474 [GRCh38]
Chr8:121290713 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_021110.4(COL14A1):c.3772G>A (p.Val1258Met) single nucleotide variant Inborn genetic diseases [RCV002723832] Chr8:120281007 [GRCh38]
Chr8:121293246 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_021110.4(COL14A1):c.3070G>A (p.Glu1024Lys) single nucleotide variant Inborn genetic diseases [RCV002652456] Chr8:120266880 [GRCh38]
Chr8:121279119 [GRCh37]
Chr8:8q24.12		 uncertain significance
GRCh38/hg38 8q23.3-24.23(chr8:115586904-135607135)x3 copy number gain Neurodevelopmental disorder [RCV003327615] Chr8:115586904..135607135 [GRCh38]
Chr8:8q23.3-24.23		 pathogenic
NM_021110.4(COL14A1):c.3275C>T (p.Thr1092Ile) single nucleotide variant Inborn genetic diseases [RCV003175996] Chr8:120278172 [GRCh38]
Chr8:121290411 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_021110.4(COL14A1):c.2373C>A (p.Asn791Lys) single nucleotide variant Inborn genetic diseases [RCV003213216] Chr8:120243902 [GRCh38]
Chr8:121256141 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_021110.4(COL14A1):c.5173C>T (p.Arg1725Trp) single nucleotide variant Inborn genetic diseases [RCV003176025] Chr8:120369347 [GRCh38]
Chr8:121381586 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_021110.4(COL14A1):c.1043C>T (p.Ser348Leu) single nucleotide variant Inborn genetic diseases [RCV003212903] Chr8:120206946 [GRCh38]
Chr8:121219185 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_021110.4(COL14A1):c.4945A>G (p.Ile1649Val) single nucleotide variant Inborn genetic diseases [RCV003210004] Chr8:120345431 [GRCh38]
Chr8:121357670 [GRCh37]
Chr8:8q24.12		 likely benign
NM_021110.4(COL14A1):c.3154A>G (p.Ile1052Val) single nucleotide variant Inborn genetic diseases [RCV003212623] Chr8:120270115 [GRCh38]
Chr8:121282354 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_021110.4(COL14A1):c.2405C>T (p.Thr802Ile) single nucleotide variant Inborn genetic diseases [RCV003285414] Chr8:120243934 [GRCh38]
Chr8:121256173 [GRCh37]
Chr8:8q24.12		 uncertain significance
GRCh37/hg19 8q24.11-24.13(chr8:118185471-126635744)x1 copy number loss Exostoses, multiple, type 1 [RCV003329505] Chr8:118185471..126635744 [GRCh37]
Chr8:8q24.11-24.13		 pathogenic
NM_021110.4(COL14A1):c.4013A>T (p.Asp1338Val) single nucleotide variant Inborn genetic diseases [RCV003340174] Chr8:120285906 [GRCh38]
Chr8:121298145 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_021110.4(COL14A1):c.3532G>A (p.Val1178Ile) single nucleotide variant Inborn genetic diseases [RCV003381173] Chr8:120279985 [GRCh38]
Chr8:121292224 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_021110.4(COL14A1):c.3192G>T (p.Lys1064Asn) single nucleotide variant Inborn genetic diseases [RCV003384821] Chr8:120270153 [GRCh38]
Chr8:121282392 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_021110.4(COL14A1):c.121A>G (p.Ile41Val) single nucleotide variant Inborn genetic diseases [RCV003383088] Chr8:120158162 [GRCh38]
Chr8:121170401 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_021110.4(COL14A1):c.2006T>C (p.Val669Ala) single nucleotide variant Inborn genetic diseases [RCV003373494] Chr8:120227221 [GRCh38]
Chr8:121239460 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_021110.4(COL14A1):c.2561C>T (p.Ser854Phe) single nucleotide variant Inborn genetic diseases [RCV003350108] Chr8:120247694 [GRCh38]
Chr8:121259933 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_021110.4(COL14A1):c.4316G>A (p.Arg1439Lys) single nucleotide variant Inborn genetic diseases [RCV003368586] Chr8:120300733 [GRCh38]
Chr8:121312972 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_021110.4(COL14A1):c.3588C>T (p.Asp1196=) single nucleotide variant not provided [RCV003423985] Chr8:120280041 [GRCh38]
Chr8:121292280 [GRCh37]
Chr8:8q24.12		 likely benign
NM_021110.4(COL14A1):c.4686G>A (p.Ser1562=) single nucleotide variant not provided [RCV003423986] Chr8:120332167 [GRCh38]
Chr8:121344406 [GRCh37]
Chr8:8q24.12		 likely benign
NM_021110.4(COL14A1):c.1621C>T (p.Leu541=) single nucleotide variant not provided [RCV003435616] Chr8:120216374 [GRCh38]
Chr8:121228613 [GRCh37]
Chr8:8q24.12		 likely benign
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not specified [RCV003986742] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q24.11-24.22(chr8:118071721-132774256)x1 copy number loss not specified [RCV003986782] Chr8:118071721..132774256 [GRCh37]
Chr8:8q24.11-24.22		 pathogenic
GRCh37/hg19 8q23.3-24.3(chr8:113392581-146364022)x3 copy number gain not provided [RCV003885521] Chr8:113392581..146364022 [GRCh37]
Chr8:8q23.3-24.3		 pathogenic
NM_021110.4(COL14A1):c.4444C>T (p.Pro1482Ser) single nucleotide variant Inborn genetic diseases [RCV003340067] Chr8:120310051 [GRCh38]
Chr8:121322290 [GRCh37]
Chr8:8q24.12		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2294
Count of miRNA genes:881
Interacting mature miRNAs:1030
Transcripts:ENST00000247781, ENST00000297848, ENST00000309791, ENST00000432943, ENST00000434620, ENST00000440844, ENST00000498051, ENST00000523142, ENST00000537875
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
D8S586  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378121,185,727 - 121,185,975UniSTSGRCh37
Build 368121,254,908 - 121,255,156RGDNCBI36
Celera8117,374,844 - 117,375,088RGD
Cytogenetic Map8q23UniSTS
HuRef8116,506,377 - 116,506,625UniSTS
Marshfield Genetic Map8128.16RGD
Marshfield Genetic Map8128.16UniSTS
deCODE Assembly Map8121.37UniSTS
Whitehead-YAC Contig Map8 UniSTS
WI-18017  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378121,384,101 - 121,384,250UniSTSGRCh37
Build 368121,453,282 - 121,453,431RGDNCBI36
Celera8117,573,188 - 117,573,337RGD
Cytogenetic Map8q23UniSTS
HuRef8116,704,745 - 116,704,894UniSTS
GeneMap99-GB4 RH Map8465.76UniSTS
Whitehead-RH Map8617.7UniSTS
RH66839  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378121,279,078 - 121,279,204UniSTSGRCh37
Build 368121,348,259 - 121,348,385RGDNCBI36
Celera8117,468,169 - 117,468,295RGD
Cytogenetic Map8q23UniSTS
HuRef8116,599,725 - 116,599,851UniSTS
GeneMap99-GB4 RH Map8459.54UniSTS
COL14A1_3311  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378121,383,506 - 121,384,324UniSTSGRCh37
Build 368121,452,687 - 121,453,505RGDNCBI36
Celera8117,572,593 - 117,573,428RGD
HuRef8116,704,150 - 116,704,968UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 1 14 12 12
Medium 1670 1683 816 139 341 79 2573 786 691 139 855 1202 64 1 1054 1581 3
Low 655 526 864 464 259 362 1705 1325 1474 239 520 249 102 150 1173 1 2
Below cutoff 32 747 32 14 801 16 56 70 1552 23 47 82 2 22 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_033107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001384947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413490 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413491 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413492 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413493 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413495 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413496 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413497 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413498 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413499 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413500 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_021110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC020603 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC090736 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC107877 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK021997 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307716 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311498 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014640 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC036192 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC083495 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC140893 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ717750 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX472674 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CF529353 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN261527 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA373565 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB286127 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M64108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M64109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y11709 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y11710 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y11711 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000247781   ⟹   ENSP00000247781
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8120,250,747 - 120,372,027 (+)Ensembl
RefSeq Acc Id: ENST00000297848   ⟹   ENSP00000297848
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8120,125,102 - 120,373,573 (+)Ensembl
RefSeq Acc Id: ENST00000309791   ⟹   ENSP00000311809
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8120,125,108 - 120,370,917 (+)Ensembl
RefSeq Acc Id: ENST00000432943
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8120,125,144 - 120,277,865 (+)Ensembl
RefSeq Acc Id: ENST00000434620   ⟹   ENSP00000409461
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8120,196,916 - 120,266,992 (+)Ensembl
RefSeq Acc Id: ENST00000440844   ⟹   ENSP00000403640
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8120,345,446 - 120,371,081 (+)Ensembl
RefSeq Acc Id: ENST00000498051   ⟹   ENSP00000428851
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8120,059,780 - 120,232,090 (+)Ensembl
RefSeq Acc Id: ENST00000523142   ⟹   ENSP00000429123
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8120,196,801 - 120,216,492 (+)Ensembl
RefSeq Acc Id: ENST00000537875   ⟹   ENSP00000443974
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8120,107,378 - 120,232,087 (+)Ensembl
RefSeq Acc Id: NM_001384947   ⟹   NP_001371876
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388120,125,102 - 120,373,573 (+)NCBI
T2T-CHM13v2.08121,253,763 - 121,502,333 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001413490   ⟹   NP_001400419
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388120,124,454 - 120,373,573 (+)NCBI
T2T-CHM13v2.08121,253,115 - 121,502,333 (+)NCBI
RefSeq Acc Id: NM_001413491   ⟹   NP_001400420
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388120,124,454 - 120,370,917 (+)NCBI
T2T-CHM13v2.08121,253,115 - 121,499,677 (+)NCBI
RefSeq Acc Id: NM_001413492   ⟹   NP_001400421
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388120,125,102 - 120,370,917 (+)NCBI
T2T-CHM13v2.08121,253,763 - 121,499,677 (+)NCBI
RefSeq Acc Id: NM_001413493   ⟹   NP_001400422
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388120,125,102 - 120,373,573 (+)NCBI
T2T-CHM13v2.08121,253,763 - 121,502,333 (+)NCBI
RefSeq Acc Id: NM_001413494   ⟹   NP_001400423
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388120,125,102 - 120,370,917 (+)NCBI
T2T-CHM13v2.08121,253,763 - 121,499,677 (+)NCBI
RefSeq Acc Id: NM_001413495   ⟹   NP_001400424
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388120,125,102 - 120,370,917 (+)NCBI
T2T-CHM13v2.08121,253,763 - 121,499,677 (+)NCBI
RefSeq Acc Id: NM_001413496   ⟹   NP_001400425
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388120,125,102 - 120,277,932 (+)NCBI
T2T-CHM13v2.08121,253,763 - 121,406,626 (+)NCBI
RefSeq Acc Id: NM_001413497   ⟹   NP_001400426
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388120,125,102 - 120,277,932 (+)NCBI
T2T-CHM13v2.08121,253,763 - 121,406,626 (+)NCBI
RefSeq Acc Id: NM_001413498   ⟹   NP_001400427
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388120,125,102 - 120,373,573 (+)NCBI
T2T-CHM13v2.08121,253,763 - 121,502,333 (+)NCBI
RefSeq Acc Id: NM_001413499   ⟹   NP_001400428
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388120,243,181 - 120,373,573 (+)NCBI
T2T-CHM13v2.08121,371,875 - 121,502,333 (+)NCBI
RefSeq Acc Id: NM_001413500   ⟹   NP_001400429
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388120,243,181 - 120,370,917 (+)NCBI
T2T-CHM13v2.08121,371,875 - 121,499,677 (+)NCBI
RefSeq Acc Id: NM_021110   ⟹   NP_066933
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388120,125,102 - 120,373,573 (+)NCBI
GRCh378121,137,347 - 121,384,273 (+)NCBI
Build 368121,206,533 - 121,453,454 (+)NCBI Archive
HuRef8116,457,995 - 116,704,917 (+)NCBI
CHM1_18121,177,769 - 121,426,305 (+)NCBI
T2T-CHM13v2.08121,253,763 - 121,502,333 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001371876 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400419 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400420 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400421 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400422 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400423 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400424 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400425 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400426 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400427 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400428 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400429 (Get FASTA)   NCBI Sequence Viewer  
  NP_066933 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA36794 (Get FASTA)   NCBI Sequence Viewer  
  AAA36795 (Get FASTA)   NCBI Sequence Viewer  
  AAH14640 (Get FASTA)   NCBI Sequence Viewer  
  AAH36192 (Get FASTA)   NCBI Sequence Viewer  
  AAH83495 (Get FASTA)   NCBI Sequence Viewer  
  AAI40894 (Get FASTA)   NCBI Sequence Viewer  
  BAF85769 (Get FASTA)   NCBI Sequence Viewer  
  CAA72401 (Get FASTA)   NCBI Sequence Viewer  
  CAA72402 (Get FASTA)   NCBI Sequence Viewer  
  CAA72403 (Get FASTA)   NCBI Sequence Viewer  
  EAW91998 (Get FASTA)   NCBI Sequence Viewer  
  EAW91999 (Get FASTA)   NCBI Sequence Viewer  
  EAW92000 (Get FASTA)   NCBI Sequence Viewer  
  EAW92001 (Get FASTA)   NCBI Sequence Viewer  
  EAW92002 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000297848
  ENSP00000297848.3
  ENSP00000311809
  ENSP00000311809.4
  ENSP00000403640.1
  ENSP00000409461.1
  ENSP00000428851.1
  ENSP00000429123.1
  ENSP00000443974.1
GenBank Protein Q05707 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_066933   ⟸   NM_021110
- Peptide Label: isoform 1 precursor
- UniProtKB: Q96C67 (UniProtKB/Swiss-Prot),   Q5XJ18 (UniProtKB/Swiss-Prot),   Q05708 (UniProtKB/Swiss-Prot),   O00262 (UniProtKB/Swiss-Prot),   O00261 (UniProtKB/Swiss-Prot),   O00260 (UniProtKB/Swiss-Prot),   B2RU07 (UniProtKB/Swiss-Prot),   Q9UDF6 (UniProtKB/Swiss-Prot),   Q05707 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000311809   ⟸   ENST00000309791
RefSeq Acc Id: ENSP00000297848   ⟸   ENST00000297848
RefSeq Acc Id: ENSP00000403640   ⟸   ENST00000440844
RefSeq Acc Id: ENSP00000247781   ⟸   ENST00000247781
RefSeq Acc Id: ENSP00000428851   ⟸   ENST00000498051
RefSeq Acc Id: ENSP00000443974   ⟸   ENST00000537875
RefSeq Acc Id: ENSP00000429123   ⟸   ENST00000523142
RefSeq Acc Id: ENSP00000409461   ⟸   ENST00000434620
RefSeq Acc Id: NP_001371876   ⟸   NM_001384947
- Peptide Label: isoform 2 precursor
RefSeq Acc Id: NP_001400419   ⟸   NM_001413490
- Peptide Label: isoform 1 precursor
- UniProtKB: Q96C67 (UniProtKB/Swiss-Prot),   Q5XJ18 (UniProtKB/Swiss-Prot),   Q05708 (UniProtKB/Swiss-Prot),   Q05707 (UniProtKB/Swiss-Prot),   O00262 (UniProtKB/Swiss-Prot),   O00261 (UniProtKB/Swiss-Prot),   O00260 (UniProtKB/Swiss-Prot),   B2RU07 (UniProtKB/Swiss-Prot),   Q9UDF6 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001400420   ⟸   NM_001413491
- Peptide Label: isoform 2 precursor
RefSeq Acc Id: NP_001400422   ⟸   NM_001413493
- Peptide Label: isoform 1 precursor
- UniProtKB: Q96C67 (UniProtKB/Swiss-Prot),   Q5XJ18 (UniProtKB/Swiss-Prot),   Q05708 (UniProtKB/Swiss-Prot),   Q05707 (UniProtKB/Swiss-Prot),   O00262 (UniProtKB/Swiss-Prot),   O00261 (UniProtKB/Swiss-Prot),   O00260 (UniProtKB/Swiss-Prot),   B2RU07 (UniProtKB/Swiss-Prot),   Q9UDF6 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001400427   ⟸   NM_001413498
- Peptide Label: isoform 7 precursor
RefSeq Acc Id: NP_001400423   ⟸   NM_001413494
- Peptide Label: isoform 2 precursor
RefSeq Acc Id: NP_001400421   ⟸   NM_001413492
- Peptide Label: isoform 3 precursor
RefSeq Acc Id: NP_001400424   ⟸   NM_001413495
- Peptide Label: isoform 4 precursor
RefSeq Acc Id: NP_001400425   ⟸   NM_001413496
- Peptide Label: isoform 5 precursor
RefSeq Acc Id: NP_001400426   ⟸   NM_001413497
- Peptide Label: isoform 6
RefSeq Acc Id: NP_001400428   ⟸   NM_001413499
- Peptide Label: isoform 8
RefSeq Acc Id: NP_001400429   ⟸   NM_001413500
- Peptide Label: isoform 9
Protein Domains
Collagen-like   Fibronectin type-III   Laminin G-like   VWFA

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q05707-F1-model_v2 AlphaFold Q05707 1-1796 view protein structure

Promoters
RGD ID:7214079
Promoter ID:EPDNEW_H12786
Type:initiation region
Name:COL14A1_1
Description:collagen type XIV alpha 1 chain
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12785  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388120,125,103 - 120,125,163EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2191 AgrOrtholog
COSMIC COL14A1 COSMIC
Ensembl Genes ENSG00000187955 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000297848 ENTREZGENE
  ENST00000297848.8 UniProtKB/Swiss-Prot
  ENST00000309791 ENTREZGENE
  ENST00000309791.8 UniProtKB/Swiss-Prot
  ENST00000432943 ENTREZGENE
  ENST00000434620.5 UniProtKB/TrEMBL
  ENST00000440844.5 UniProtKB/TrEMBL
  ENST00000498051.6 UniProtKB/TrEMBL
  ENST00000523142.5 UniProtKB/TrEMBL
  ENST00000537875.2 UniProtKB/TrEMBL
Gene3D-CATH 2.60.120.200 UniProtKB/Swiss-Prot
  2.60.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.410 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000187955 GTEx
HGNC ID HGNC:2191 ENTREZGENE
Human Proteome Map COL14A1 Human Proteome Map
InterPro Collagen UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ConA-like_dom_sf UniProtKB/Swiss-Prot
  FN3_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FN3_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TSPN-like_N UniProtKB/Swiss-Prot
  VWF_A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  vWFA_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:7373 UniProtKB/Swiss-Prot
NCBI Gene 7373 ENTREZGENE
OMIM 120324 OMIM
PANTHER COLLAGEN ALPHA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  COLLAGEN ALPHA UniProtKB/TrEMBL
  COLLAGEN ALPHA-1(XIV) CHAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  COLLAGEN ALPHA-1(XXI) CHAIN-LIKE ISOFORM X1 UniProtKB/TrEMBL
  FIBRILLAR COLLAGEN NC1 DOMAIN-CONTAINING PROTEIN UniProtKB/TrEMBL
Pfam Collagen UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  fn3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26707 PharmGKB
PRINTS VWFADOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE FN3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWFA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART FN3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TSPN UniProtKB/Swiss-Prot
  VWA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF49265 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF49899 UniProtKB/Swiss-Prot
  SSF53300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B2RU07 ENTREZGENE
  COEA1_HUMAN UniProtKB/Swiss-Prot
  H0YBB2_HUMAN UniProtKB/TrEMBL
  J3QT75_HUMAN UniProtKB/TrEMBL
  J3QT83_HUMAN UniProtKB/TrEMBL
  L8EB32_HUMAN UniProtKB/TrEMBL
  O00260 ENTREZGENE
  O00261 ENTREZGENE
  O00262 ENTREZGENE
  Q05707 ENTREZGENE
  Q05708 ENTREZGENE
  Q4G0W3_HUMAN UniProtKB/TrEMBL
  Q5XJ18 ENTREZGENE
  Q96C67 ENTREZGENE
  Q9UDF6 ENTREZGENE
UniProt Secondary B2RU07 UniProtKB/Swiss-Prot
  O00260 UniProtKB/Swiss-Prot
  O00261 UniProtKB/Swiss-Prot
  O00262 UniProtKB/Swiss-Prot
  Q05708 UniProtKB/Swiss-Prot
  Q5XJ18 UniProtKB/Swiss-Prot
  Q96C67 UniProtKB/Swiss-Prot
  Q9UDF6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-05-31 COL14A1  collagen type XIV alpha 1 chain    collagen type XIV alpha 1  Symbol and/or name change 5135510 APPROVED
2016-01-26 COL14A1  collagen type XIV alpha 1    collagen, type XIV, alpha 1  Symbol and/or name change 5135510 APPROVED