KRT10 (keratin 10) - Rat Genome Database

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Gene: KRT10 (keratin 10) Homo sapiens
Analyze
Symbol: KRT10
Name: keratin 10
RGD ID: 1354394
HGNC Page HGNC:6413
Description: Enables protein heterodimerization activity. A structural constituent of skin epidermis. Involved in keratinocyte differentiation; peptide cross-linking; and protein heterotetramerization. Located in cornified envelope and cytoplasm. Part of keratin filament. Implicated in epidermolytic hyperkeratosis and epidermolytic hyperkeratosis 2.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: BCIE; BIE; CK-10; CK10; cytokeratin 10; EHK; EHK2; EHK2A; EHK2B; IHL; K10; keratin 10, type I; keratin, type I cytoskeletal 10; keratin-10; KPP
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
GRCh381740,818,117 - 40,822,614 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1740,818,117 - 40,822,614 (-)EnsemblGRCh38hg38GRCh38
GRCh371738,974,369 - 38,978,866 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361736,227,895 - 36,232,373 (-)NCBINCBI36Build 36hg18NCBI36
Build 341736,227,895 - 36,232,373NCBI
Celera1735,635,920 - 35,640,414 (-)NCBICelera
Cytogenetic Map17q21.2NCBI
HuRef1734,768,729 - 34,773,223 (-)NCBIHuRef
CHM1_11739,209,679 - 39,214,200 (-)NCBICHM1_1
T2T-CHM13v2.01741,682,437 - 41,686,934 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
1,2-dibromoethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1,3-dinitrobenzene  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-hydroxy-17-methylestra-4,9,11-trien-3-one  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2-nitrotoluene  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
6-propyl-2-thiouracil  (ISO)
7,12-dimethyltetraphene  (ISO)
9-cis-retinoic acid  (EXP)
acetamide  (ISO)
aflatoxin B1  (EXP)
all-trans-4-oxoretinoic acid  (EXP)
all-trans-retinoic acid  (EXP,ISO)
antimonite  (EXP)
antirheumatic drug  (EXP)
aristolochic acid A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
beta-damascenone  (ISO)
beta-naphthoflavone  (EXP)
bis(2-chloroethyl) sulfide  (EXP)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
cadmium atom  (EXP)
cadmium dichloride  (EXP,ISO)
calcipotriol  (EXP)
calcitriol  (EXP)
carbon nanotube  (ISO)
chlorophyllin  (EXP)
chloropicrin  (EXP)
chromium trinitrate  (ISO)
cisplatin  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
cortisol  (EXP)
cyclosporin A  (EXP,ISO)
DAPT  (EXP)
diallyl trisulfide  (EXP)
diethylstilbestrol  (ISO)
dimethylarsinic acid  (ISO)
dipotassium bis[mu-tartrato(4-)]diantimonate(2-) trihydrate  (EXP)
doxorubicin  (EXP)
endosulfan  (ISO)
enzyme inhibitor  (EXP)
ethanol  (ISO)
fenthion  (ISO)
fulvestrant  (EXP)
gentamycin  (ISO)
hyaluronic acid  (ISO)
hydrazine  (ISO)
hydrogen peroxide  (ISO)
isotretinoin  (EXP)
ivermectin  (EXP)
lead(0)  (EXP)
menadione  (EXP)
methyl methanesulfonate  (EXP)
microcystin RR  (EXP)
Mono-carboxy isooctyl phthalate  (EXP)
morphine  (ISO)
N-acetyl-L-cysteine  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosomorpholine  (ISO)
naphthalene  (ISO)
nickel atom  (EXP)
nimesulide  (ISO)
orphenadrine  (ISO)
paracetamol  (ISO)
perfluorododecanoic acid  (ISO)
perfluorooctanoic acid  (EXP)
perfluoropentanoic acid  (ISO)
phenethyl isothiocyanate  (ISO)
potassium chromate  (ISO)
potassium dichromate  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
silicon dioxide  (EXP)
sodium arsenate  (EXP)
sodium arsenite  (EXP)
sodium chromate  (ISO)
stattic  (EXP)
sunitinib  (EXP)
testosterone  (EXP)
tetrachloromethane  (ISO)
thiram  (EXP)
titanium dioxide  (EXP,ISO)
Tributyltin oxide  (ISO)
trichostatin A  (EXP)
triclosan  (ISO)
triphenyl phosphate  (EXP)
triphenylstannane  (EXP)
tyrphostin AG 1478  (EXP)
valproic acid  (EXP)
VX nerve agent  (EXP)
zearalenone  (ISO)
zinc atom  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

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. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
7. Genetic mutations in the K1 and K10 genes of patients with epidermolytic hyperkeratosis. Correlation between location and disease severity. Syder AJ, etal., J Clin Invest. 1994 Apr;93(4):1533-42.
Additional References at PubMed
PMID:1286667   PMID:1371013   PMID:1378806   PMID:1380725   PMID:1381287   PMID:1602151   PMID:2182100   PMID:2448602   PMID:2459124   PMID:2461420   PMID:2464696   PMID:2465278  
PMID:7504553   PMID:7507150   PMID:7507152   PMID:7508181   PMID:7509230   PMID:7513736   PMID:7526210   PMID:7543090   PMID:8999895   PMID:9036939   PMID:9856845   PMID:10098704  
PMID:10201536   PMID:10542138   PMID:11487543   PMID:11585925   PMID:12234709   PMID:12427098   PMID:12429849   PMID:12477932   PMID:12566451   PMID:14645504   PMID:14705805   PMID:15174051  
PMID:15254692   PMID:15489334   PMID:15527767   PMID:15952740   PMID:16505000   PMID:16831889   PMID:16888010   PMID:16944923   PMID:17342744   PMID:17361185   PMID:17373842   PMID:17542994  
PMID:17562024   PMID:17868192   PMID:18219278   PMID:18259765   PMID:18559605   PMID:18637039   PMID:19199708   PMID:19299420   PMID:19380743   PMID:19443303   PMID:19474805   PMID:19515043  
PMID:19627498   PMID:19738201   PMID:19776502   PMID:19904223   PMID:19946888   PMID:20348541   PMID:20391533   PMID:20798280   PMID:21145461   PMID:21151833   PMID:21271994   PMID:21565611  
PMID:21615674   PMID:21630459   PMID:21800051   PMID:21873635   PMID:21907836   PMID:22170488   PMID:22623428   PMID:22734720   PMID:22939629   PMID:23084401   PMID:23121977   PMID:23182068  
PMID:23376485   PMID:23398456   PMID:23414517   PMID:23533145   PMID:23580065   PMID:23686814   PMID:23798571   PMID:24096702   PMID:24390425   PMID:24434152   PMID:24626314   PMID:24940650  
PMID:25210931   PMID:25324306   PMID:25756610   PMID:26125866   PMID:26176760   PMID:26181054   PMID:26209609   PMID:26338057   PMID:26344197   PMID:26373619   PMID:26460568   PMID:26581228  
PMID:26972000   PMID:27025967   PMID:27212473   PMID:27342126   PMID:27421141   PMID:27507811   PMID:27545878   PMID:27591049   PMID:27595935   PMID:27609421   PMID:27722766   PMID:28065597  
PMID:28443643   PMID:28515276   PMID:28944608   PMID:28977666   PMID:29422532   PMID:29478914   PMID:29507755   PMID:29563501   PMID:29777862   PMID:29795372   PMID:29845934   PMID:29859926  
PMID:30021014   PMID:30209976   PMID:30463901   PMID:30575818   PMID:30619335   PMID:30719818   PMID:30737378   PMID:31006538   PMID:31036554   PMID:31253590   PMID:31280863   PMID:31324722  
PMID:31527668   PMID:31626786   PMID:31638346   PMID:31796584   PMID:31839203   PMID:31862882   PMID:32041737   PMID:32045015   PMID:32113649   PMID:32168425   PMID:32179842   PMID:32322062  
PMID:32393512   PMID:32407542   PMID:32457219   PMID:32529326   PMID:32552912   PMID:32556352   PMID:32618487   PMID:32788342   PMID:32807901   PMID:32994395   PMID:33005030   PMID:33029523  
PMID:33194618   PMID:33417871   PMID:33644029   PMID:33762435   PMID:34199056   PMID:34445801   PMID:34537242   PMID:34638806   PMID:34650049   PMID:34709727   PMID:35013218   PMID:35173535  
PMID:35256949   PMID:35446349   PMID:35474131   PMID:35562734   PMID:35563538   PMID:35575683   PMID:35623459   PMID:35652658   PMID:35676659   PMID:35831895   PMID:35844135   PMID:35864588  
PMID:35944360   PMID:35973989   PMID:36055981   PMID:36057605   PMID:36089195   PMID:36147463   PMID:36168627   PMID:36180891   PMID:36215168   PMID:36517590   PMID:36526897   PMID:36594163  
PMID:36896912   PMID:37120454   PMID:37132043   PMID:37314216   PMID:37406407   PMID:37616343   PMID:38113892   PMID:38172120   PMID:38697112   PMID:39072839   PMID:39238192  


Genomics

Comparative Map Data
KRT10
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381740,818,117 - 40,822,614 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1740,818,117 - 40,822,614 (-)EnsemblGRCh38hg38GRCh38
GRCh371738,974,369 - 38,978,866 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361736,227,895 - 36,232,373 (-)NCBINCBI36Build 36hg18NCBI36
Build 341736,227,895 - 36,232,373NCBI
Celera1735,635,920 - 35,640,414 (-)NCBICelera
Cytogenetic Map17q21.2NCBI
HuRef1734,768,729 - 34,773,223 (-)NCBIHuRef
CHM1_11739,209,679 - 39,214,200 (-)NCBICHM1_1
T2T-CHM13v2.01741,682,437 - 41,686,934 (-)NCBIT2T-CHM13v2.0
Krt10
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391199,276,080 - 99,288,631 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1199,276,080 - 99,280,190 (-)EnsemblGRCm39 Ensembl
GRCm381199,385,254 - 99,397,449 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1199,385,254 - 99,389,364 (-)EnsemblGRCm38mm10GRCm38
MGSCv371199,246,568 - 99,250,678 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361199,201,517 - 99,205,443 (-)NCBIMGSCv36mm8
Cytogenetic Map11DNCBI
cM Map1162.92NCBI
Krt10
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81084,834,865 - 84,839,160 (-)NCBIGRCr8
mRatBN7.21084,338,695 - 84,343,279 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1084,338,706 - 84,343,701 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1089,282,528 - 89,286,524 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01088,780,663 - 88,784,659 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01084,172,644 - 84,176,640 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01087,296,445 - 87,301,307 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1087,296,451 - 87,300,736 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01087,091,976 - 87,100,918 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41088,288,620 - 88,292,615 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11088,302,989 - 88,306,985 (-)NCBI
Celera1083,077,920 - 83,081,916 (-)NCBICelera
Cytogenetic Map10q31NCBI
Krt10
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545115,270,222 - 15,274,312 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495545115,269,861 - 15,274,351 (-)NCBIChiLan1.0ChiLan1.0
KRT10
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21924,129,997 - 24,134,515 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11726,020,443 - 26,024,955 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01716,461,624 - 16,466,136 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11716,686,898 - 16,691,221 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1716,686,898 - 16,690,415 (+)Ensemblpanpan1.1panPan2
KRT10
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1921,863,715 - 21,868,587 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl921,863,767 - 21,868,587 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha921,336,709 - 21,341,572 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0922,656,504 - 22,661,353 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl922,656,547 - 22,661,353 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1921,431,293 - 21,436,162 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0921,690,028 - 21,694,877 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0921,814,216 - 21,819,078 (+)NCBIUU_Cfam_GSD_1.0
Krt10
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560221,287,128 - 21,291,503 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493649015,783,618 - 15,788,634 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493649015,783,636 - 15,788,605 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
KRT10
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1221,641,271 - 21,646,377 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11221,641,263 - 21,645,642 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21221,842,078 - 21,846,439 (-)NCBISscrofa10.2Sscrofa10.2susScr3
KRT10
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11665,361,893 - 65,367,634 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1665,362,903 - 65,367,941 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607736,242,450 - 36,246,895 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Krt10
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247952,595,072 - 2,599,077 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247952,594,973 - 2,599,433 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in KRT10
137 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3 copy number gain See cases [RCV000050957] Chr17:36449220..68170214 [GRCh38]
Chr17:48563237..65936105 [GRCh37]
Chr17:45918236..63677950 [NCBI36]
Chr17:17q21.33-24.2		 pathogenic
NM_000421.5(KRT10):c.1300C>T (p.Gln434Ter) single nucleotide variant Epidermolytic hyperkeratosis 2B, autosomal recessive [RCV004593975]|not provided [RCV000056476] Chr17:40819590 [GRCh38]
Chr17:38975842 [GRCh37]
Chr17:17q21.2		 pathogenic|not provided
NM_000421.5(KRT10):c.1281C>A (p.Cys427Ter) single nucleotide variant Epidermolytic hyperkeratosis 2B, autosomal recessive [RCV004593976] Chr17:40819609 [GRCh38]
Chr17:38975861 [GRCh37]
Chr17:17q21.2		 pathogenic
KRT10, 1-BP INS, 1325C insertion Bullous ichthyosiform erythroderma [RCV000022632] Chr17:17q21-q22 pathogenic
KRT10, IVS5DS, G-A, +5 single nucleotide variant Bullous ichthyosiform erythroderma [RCV000022633] Chr17:17q21-q22 pathogenic
KRT10, ARG10HIS single nucleotide variant Bullous ichthyosiform erythroderma [RCV000015669] Chr17:17q21-q22 pathogenic
NM_000421.5(KRT10):c.482T>C (p.Leu161Ser) single nucleotide variant Epidermolytic hyperkeratosis 2A, autosomal dominant [RCV004593963]|not provided [RCV000056504] Chr17:40822104 [GRCh38]
Chr17:38978356 [GRCh37]
Chr17:17q21.2		 pathogenic|not provided
KRT10, ARG10LEU variation Bullous ichthyosiform erythroderma [RCV000015671] Chr17:17q21-q22 pathogenic
NM_000421.5(KRT10):c.460A>C (p.Asn154His) single nucleotide variant Epidermolytic hyperkeratosis 2A, autosomal dominant [RCV004593964]|not provided [RCV000056493] Chr17:40822126 [GRCh38]
Chr17:38978378 [GRCh37]
Chr17:17q21.2		 pathogenic|not provided
NM_000421.5(KRT10):c.478T>G (p.Tyr160Asp) single nucleotide variant Epidermolytic hyperkeratosis 2A, autosomal dominant [RCV004593965]|not provided [RCV000056501] Chr17:40822108 [GRCh38]
Chr17:38978360 [GRCh37]
Chr17:17q21.2		 pathogenic|not provided
NM_000421.5(KRT10):c.467G>A (p.Arg156His) single nucleotide variant Epidermolytic hyperkeratosis 2A, autosomal dominant [RCV004562211]|Epidermolytic ichthyosis [RCV000015674]|KRT10-related disorder [RCV004755736]|not provided [RCV000056497] Chr17:40822119 [GRCh38]
Chr17:38978371 [GRCh37]
Chr17:17q21.2		 pathogenic|not provided
KRT10, ARG10CYS variation Bullous ichthyosiform erythroderma [RCV000015675] Chr17:17q21-q22 pathogenic
NM_000421.5(KRT10):c.1325T>A (p.Leu442Gln) single nucleotide variant Epidermolytic hyperkeratosis 2A, autosomal dominant [RCV004593966]|not provided [RCV000056479] Chr17:40819565 [GRCh38]
Chr17:38975817 [GRCh37]
Chr17:17q21.2		 pathogenic|not provided
NM_000421.5(KRT10):c.466C>T (p.Arg156Cys) single nucleotide variant Epidermolytic acanthoma [RCV001849267]|Epidermolytic hyperkeratosis 2A, autosomal dominant [RCV004593967]|Epidermolytic ichthyosis [RCV000763396]|Epidermolytic nevus [RCV003458335]|KRT10-related disorder [RCV003398521]|not provided [RCV000056496] Chr17:40822120 [GRCh38]
Chr17:38978372 [GRCh37]
Chr17:17q21.2		 pathogenic|likely pathogenic|not provided
NM_000421.5(KRT10):c.449T>G (p.Met150Arg) single nucleotide variant Epidermolytic hyperkeratosis 2A, autosomal dominant [RCV004593968]|not provided [RCV000056491] Chr17:40822137 [GRCh38]
Chr17:38978389 [GRCh37]
Chr17:17q21.2		 pathogenic|not provided
NM_000421.5(KRT10):c.1315A>G (p.Lys439Glu) single nucleotide variant Epidermolytic hyperkeratosis 1 [RCV004593969]|not provided [RCV000056478] Chr17:40819575 [GRCh38]
Chr17:38975827 [GRCh37]
Chr17:17q21.2		 pathogenic|not provided
NM_000421.5(KRT10):c.449T>C (p.Met150Thr) single nucleotide variant Epidermolytic hyperkeratosis 2A, autosomal dominant [RCV004593970]|not provided [RCV000056490] Chr17:40822137 [GRCh38]
Chr17:38978389 [GRCh37]
Chr17:17q21.2		 pathogenic|not provided
NM_000421.5(KRT10):c.1264_1265delinsGA (p.Arg422Glu) indel Annular epidermolytic ichthyosis [RCV000015681]|not provided [RCV000056474] Chr17:40819625..40819626 [GRCh38]
Chr17:38975877..38975878 [GRCh37]
Chr17:17q21.2		 pathogenic|not provided
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] Chr17:36449220..83086677 [GRCh38]
Chr17:58617905..81044553 [GRCh37]
Chr17:55972687..78637842 [NCBI36]
Chr17:17q23.2-25.3		 pathogenic
NM_000421.5(KRT10):c.1374-2A>C single nucleotide variant not provided [RCV000519237] Chr17:40819163 [GRCh38]
Chr17:38975415 [GRCh37]
Chr17:17q21.2		 pathogenic
NM_000421.5(KRT10):c.1374-2A>G single nucleotide variant Congenital reticular ichthyosiform erythroderma [RCV000015682] Chr17:40819163 [GRCh38]
Chr17:38975415 [GRCh37]
Chr17:17q21.2		 pathogenic
NM_000421.5(KRT10):c.1373+1G>A single nucleotide variant Congenital reticular ichthyosiform erythroderma [RCV000015683] Chr17:40819516 [GRCh38]
Chr17:38975768 [GRCh37]
Chr17:17q21.2		 pathogenic
NM_000421.5(KRT10):c.1449dup (p.Gly484fs) duplication Congenital reticular ichthyosiform erythroderma [RCV000015684] Chr17:40819085..40819086 [GRCh38]
Chr17:38975337..38975338 [GRCh37]
Chr17:17q21.2		 pathogenic
NM_000421.5(KRT10):c.1560_1561del (p.Gly521fs) deletion Congenital reticular ichthyosiform erythroderma [RCV000015685]|not provided [RCV000056488] Chr17:40818974..40818975 [GRCh38]
Chr17:38975226..38975227 [GRCh37]
Chr17:17q21.2		 pathogenic|not provided
GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3 copy number gain See cases [RCV000052479] Chr17:39199873..45629579 [GRCh38]
Chr17:37356126..43706945 [GRCh37]
Chr17:34609652..41062728 [NCBI36]
Chr17:17q12-21.31		 pathogenic
NM_000421.3(KRT10):c.373G>A (p.Gly125Ser) single nucleotide variant Malignant melanoma [RCV000071462] Chr17:40822213 [GRCh38]
Chr17:38978465 [GRCh37]
Chr17:36231991 [NCBI36]
Chr17:17q21.2		 not provided
NM_000421.5(KRT10):c.1155+5G>A single nucleotide variant Epidermolytic hyperkeratosis 2B, autosomal recessive [RCV004593982]|not provided [RCV000056473] Chr17:40820044 [GRCh38]
Chr17:38976296 [GRCh37]
Chr17:17q21.2		 pathogenic|not provided
NM_000421.5(KRT10):c.1281_1282delinsAA (p.Cys427_Gln428delinsTer) indel not provided [RCV000056475] Chr17:40819608..40819609 [GRCh38]
Chr17:38975860..38975861 [GRCh37]
Chr17:17q21.2		 not provided
NM_000421.5(KRT10):c.1314_1315insC (p.Lys439fs) insertion Epidermolytic hyperkeratosis 2B, autosomal recessive [RCV004593983]|not provided [RCV000056477] Chr17:40819575..40819576 [GRCh38]
Chr17:38975827..38975828 [GRCh37]
Chr17:17q21.2		 pathogenic|not provided
NM_000421.5(KRT10):c.1333G>A (p.Glu445Lys) single nucleotide variant not provided [RCV000056480] Chr17:40819557 [GRCh38]
Chr17:38975809 [GRCh37]
Chr17:17q21.2		 not provided
NM_000421.5(KRT10):c.1337T>C (p.Ile446Thr) single nucleotide variant Ichthyosis, annular epidermolytic 1 [RCV004595904]|not provided [RCV000056481] Chr17:40819553 [GRCh38]
Chr17:38975805 [GRCh37]
Chr17:17q21.2		 pathogenic|not provided
NM_000421.5(KRT10):c.1340A>C (p.Gln447Pro) single nucleotide variant not provided [RCV000056482] Chr17:40819550 [GRCh38]
Chr17:38975802 [GRCh37]
Chr17:17q21.2		 not provided
NM_000421.5(KRT10):c.1346A>G (p.Tyr449Cys) single nucleotide variant not provided [RCV000056483] Chr17:40819544 [GRCh38]
Chr17:38975796 [GRCh37]
Chr17:17q21.2		 not provided
NM_000421.5(KRT10):c.1355T>C (p.Leu452Pro) single nucleotide variant not provided [RCV000056484] Chr17:40819535 [GRCh38]
Chr17:38975787 [GRCh37]
Chr17:17q21.2		 not provided
NM_000421.5(KRT10):c.1358T>C (p.Leu453Pro) single nucleotide variant not provided [RCV000056485] Chr17:40819532 [GRCh38]
Chr17:38975784 [GRCh37]
Chr17:17q21.2		 not provided
NM_000421.5(KRT10):c.1450_1451insC (p.Gly484fs) insertion not provided [RCV000056486] Chr17:40819084..40819085 [GRCh38]
Chr17:38975336..38975337 [GRCh37]
Chr17:17q21.2		 not provided
NM_000421.5(KRT10):c.1546_1551delinsT (p.Gly516fs) indel not provided [RCV000056487] Chr17:40818984..40818989 [GRCh38]
Chr17:38975236..38975241 [GRCh37]
Chr17:17q21.2		 not provided
NM_000421.5(KRT10):c.376G>A (p.Gly126Ser) single nucleotide variant Epidermolytic ichthyosis [RCV002496745]|not provided [RCV000056489] Chr17:40822210 [GRCh38]
Chr17:38978462 [GRCh37]
Chr17:17q21.2		 benign|likely benign|not provided
NM_000421.5(KRT10):c.457C>G (p.Leu153Val) single nucleotide variant not provided [RCV000056492] Chr17:40822129 [GRCh38]
Chr17:38978381 [GRCh37]
Chr17:17q21.2		 not provided
NM_000421.5(KRT10):c.465_466delinsAA (p.Asp155_Arg156delinsGluSer) indel not provided [RCV000056494] Chr17:40822120..40822121 [GRCh38]
Chr17:38978372..38978373 [GRCh37]
Chr17:17q21.2		 not provided
NM_000421.5(KRT10):c.466C>A (p.Arg156Ser) single nucleotide variant not provided [RCV000056495] Chr17:40822120 [GRCh38]
Chr17:38978372 [GRCh37]
Chr17:17q21.2		 pathogenic|not provided
NM_000421.5(KRT10):c.467G>C (p.Arg156Pro) single nucleotide variant not provided [RCV000056498] Chr17:40822119 [GRCh38]
Chr17:38978371 [GRCh37]
Chr17:17q21.2		 not provided
NM_000421.5(KRT10):c.467G>T (p.Arg156Leu) single nucleotide variant Epidermolytic hyperkeratosis 2A, autosomal dominant [RCV004593984]|not provided [RCV000056499] Chr17:40822119 [GRCh38]
Chr17:38978371 [GRCh37]
Chr17:17q21.2		 pathogenic|not provided
NM_000421.5(KRT10):c.472G>C (p.Ala158Pro) single nucleotide variant not provided [RCV000056500] Chr17:40822114 [GRCh38]
Chr17:38978366 [GRCh37]
Chr17:17q21.2		 pathogenic|not provided
NM_000421.5(KRT10):c.479A>C (p.Tyr160Ser) single nucleotide variant not provided [RCV000056502] Chr17:40822107 [GRCh38]
Chr17:38978359 [GRCh37]
Chr17:17q21.2		 not provided
NM_000421.5(KRT10):c.481_486del (p.Leu161_Asp162del) deletion not provided [RCV000056503] Chr17:40822100..40822105 [GRCh38]
Chr17:38978352..38978357 [GRCh37]
Chr17:17q21.2		 not provided
NM_000421.5(KRT10):c.466C>G (p.Arg156Gly) single nucleotide variant not provided [RCV000057504] Chr17:40822120 [GRCh38]
Chr17:38978372 [GRCh37]
Chr17:17q21.2		 not provided
NM_000421.5(KRT10):c.1459C>T (p.His487Tyr) single nucleotide variant Annular epidermolytic ichthyosis [RCV001731062]|Congenital reticular ichthyosiform erythroderma [RCV001731063]|Epidermolytic ichthyosis [RCV001731061]|not provided [RCV002073958] Chr17:40819076 [GRCh38]
Chr17:38975328 [GRCh37]
Chr17:17q21.2		 benign
NM_000421.5(KRT10):c.1639_1640insGCGGCGGCGGC (p.Ser547fs) insertion Bullous ichthyosiform erythroderma [RCV001333427] Chr17:40818895..40818896 [GRCh38]
Chr17:38975147..38975148 [GRCh37]
Chr17:17q21.2		 pathogenic
GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3 copy number gain See cases [RCV000137437] Chr17:36449220..75053130 [GRCh38]
Chr17:57595736..73049225 [GRCh37]
Chr17:54950518..70560820 [NCBI36]
Chr17:17q23.1-25.1		 pathogenic
NM_000421.5(KRT10):c.1428AAGCTCCGGCGGCGG[3] (p.477SSGGG[3]) microsatellite not provided [RCV001697377] Chr17:40819077..40819078 [GRCh38]
Chr17:38975329..38975330 [GRCh37]
Chr17:17q21.2		 likely benign|conflicting interpretations of pathogenicity
NM_000421.5(KRT10):c.1654AGCTCCGGCGGCGGATACGGCGGCGGCAGC[4] (p.556GYGGGSSSGG[4]) microsatellite not provided [RCV001856847]|not specified [RCV000487197] Chr17:40818851..40818852 [GRCh38]
Chr17:38975103..38975104 [GRCh37]
Chr17:17q21.2		 likely benign|uncertain significance
NM_000421.5(KRT10):c.494G>C (p.Arg165Pro) single nucleotide variant not provided [RCV000497598] Chr17:40822092 [GRCh38]
Chr17:38978344 [GRCh37]
Chr17:17q21.2		 likely pathogenic
NM_000421.5(KRT10):c.1373+2T>C single nucleotide variant not provided [RCV000498057] Chr17:40819515 [GRCh38]
Chr17:38975767 [GRCh37]
Chr17:17q21.2		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
NM_000421.3(KRT10):c.1624_1640del17ins20 (p.?) indel not specified [RCV000605981] Chr17:40818895..40818911 [GRCh38]
Chr17:38975147..38975163 [GRCh37]
Chr17:17q21.2		 likely benign
NM_000421.3(KRT10):c.1458_1459delCCins17 (p.?) indel not specified [RCV000615808] Chr17:40819076..40819077 [GRCh38]
Chr17:38975328..38975329 [GRCh37]
Chr17:17q21.2		 likely benign
NM_000421.5(KRT10):c.1285A>G (p.Asn429Asp) single nucleotide variant Inborn genetic diseases [RCV003267774] Chr17:40819605 [GRCh38]
Chr17:38975857 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_000421.5(KRT10):c.1654_1683dup (p.Gly556_Gly565dup) duplication Epidermolytic ichthyosis [RCV002506484]|KRT10-related disorder [RCV003980188]|not provided [RCV000948451]|not specified [RCV000601257] Chr17:40818851..40818852 [GRCh38]
Chr17:38975103..38975104 [GRCh37]
Chr17:17q21.2		 benign|likely benign
NM_000421.5(KRT10):c.1443_1459delinsCT (p.Ser482_His487delinsTyr) indel not specified [RCV000609132] Chr17:40819076..40819092 [GRCh38]
Chr17:38975328..38975344 [GRCh37]
Chr17:17q21.2		 likely benign
NM_000421.5(KRT10):c.1428AAGCTCCGGCGGCGG[4] (p.477SSGGG[4]) microsatellite not specified [RCV000606079] Chr17:40819077..40819078 [GRCh38]
Chr17:38975329..38975330 [GRCh37]
Chr17:17q21.2		 likely benign
NM_000421.5(KRT10):c.158G>A (p.Ser53Asn) single nucleotide variant not provided [RCV000513318] Chr17:40822428 [GRCh38]
Chr17:38978680 [GRCh37]
Chr17:17q21.2		 uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
NM_000421.5(KRT10):c.49GGA[9] (p.Gly24dup) microsatellite Epidermolytic ichthyosis [RCV002495870]|KRT10-related disorder [RCV003908892]|not provided [RCV001546059] Chr17:40822513..40822514 [GRCh38]
Chr17:38978765..38978766 [GRCh37]
Chr17:17q21.2		 likely benign
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
NM_000421.5(KRT10):c.1459_1460insGGCGGCGGCT (p.His487fs) insertion not provided [RCV001529894] Chr17:40819075..40819076 [GRCh38]
Chr17:38975327..38975328 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_000421.5(KRT10):c.75T>C (p.Cys25=) single nucleotide variant KRT10-related disorder [RCV003941071]|not provided [RCV001681342] Chr17:40822511 [GRCh38]
Chr17:38978763 [GRCh37]
Chr17:17q21.2		 benign|likely benign
NM_000421.5(KRT10):c.1506AAGCTCCGGCGGCGG[1] (p.503SSGGG[1]) microsatellite not provided [RCV001534531] Chr17:40819000..40819014 [GRCh38]
Chr17:38975252..38975266 [GRCh37]
Chr17:17q21.2		 benign
NM_000421.5(KRT10):c.1374-1G>C single nucleotide variant Congenital reticular ichthyosiform erythroderma [RCV001619783] Chr17:40819162 [GRCh38]
Chr17:38975414 [GRCh37]
Chr17:17q21.2		 pathogenic
NM_000421.5(KRT10):c.1456GGCCACGGCGGC[1] (p.486GHGG[1]) microsatellite not provided [RCV000948452] Chr17:40819056..40819067 [GRCh38]
Chr17:38975308..38975319 [GRCh37]
Chr17:17q21.2		 benign
NM_000421.5(KRT10):c.1546_1572dup (p.Gly516_Gly524dup) duplication not provided [RCV000949400] Chr17:40818962..40818963 [GRCh38]
Chr17:38975214..38975215 [GRCh37]
Chr17:17q21.2		 benign
NM_000421.5(KRT10):c.1639_1653dup (p.543GGGSS[3]) duplication KRT10-related disorder [RCV003936265]|not provided [RCV000996532] Chr17:40818881..40818882 [GRCh38]
Chr17:38975133..38975134 [GRCh37]
Chr17:17q21.2		 benign|likely benign
NM_000421.5(KRT10):c.338G>A (p.Gly113Asp) single nucleotide variant not provided [RCV000841356] Chr17:40822248 [GRCh38]
Chr17:38978500 [GRCh37]
Chr17:17q21.2		 likely benign
NM_000421.5(KRT10):c.1458_1460delinsAAGCTC (p.His487delinsSerSer) indel not provided [RCV000840215] Chr17:40819075..40819077 [GRCh38]
Chr17:38975327..38975329 [GRCh37]
Chr17:17q21.2		 likely benign
NM_000421.5(KRT10):c.1458_1459delinsAAGCTCCGGCGGTGGCT (p.His487delinsSerSerGlyGlyGlyTyr) indel not provided [RCV000830216] Chr17:40819076..40819077 [GRCh38]
Chr17:38975328..38975329 [GRCh37]
Chr17:17q21.2		 likely benign
NM_000421.5(KRT10):c.461A>G (p.Asn154Ser) single nucleotide variant not provided [RCV002001626] Chr17:40822125 [GRCh38]
Chr17:38978377 [GRCh37]
Chr17:17q21.2		 likely pathogenic
NM_000421.5(KRT10):c.1547G>A (p.Gly516Glu) single nucleotide variant Inborn genetic diseases [RCV003249337] Chr17:40818988 [GRCh38]
Chr17:38975240 [GRCh37]
Chr17:17q21.2		 uncertain significance
NC_000017.11:g.40822889G>A single nucleotide variant not provided [RCV001678240] Chr17:40822889 [GRCh38]
Chr17:38979141 [GRCh37]
Chr17:17q21.2		 benign
NM_000421.5(KRT10):c.1654_1655insAGCTCCGGCGGCGGATACGGCGGCGGCAGC (p.Ser552delinsLysLeuArgArgArgIleArgArgArgGlnArg) insertion not provided [RCV001713217] Chr17:40818880..40818881 [GRCh38]
Chr17:38975132..38975133 [GRCh37]
Chr17:17q21.2		 benign
NM_000421.5(KRT10):c.*116A>G single nucleotide variant not provided [RCV001537392] Chr17:40818360 [GRCh38]
Chr17:38974612 [GRCh37]
Chr17:17q21.2		 benign
NM_000421.5(KRT10):c.1636A>G (p.Ser546Gly) single nucleotide variant not provided [RCV001598547] Chr17:40818899 [GRCh38]
Chr17:38975151 [GRCh37]
Chr17:17q21.2		 benign|likely benign
NM_000421.5(KRT10):c.375C>T (p.Gly125=) single nucleotide variant not provided [RCV001707188] Chr17:40822211 [GRCh38]
Chr17:38978463 [GRCh37]
Chr17:17q21.2		 benign
NM_000421.5(KRT10):c.1373+1del deletion Congenital reticular ichthyosiform erythroderma [RCV001619784] Chr17:40819516 [GRCh38]
Chr17:38975768 [GRCh37]
Chr17:17q21.2		 pathogenic
NM_000421.5(KRT10):c.997C>T (p.Arg333Cys) single nucleotide variant Inborn genetic diseases [RCV003275871] Chr17:40820294 [GRCh38]
Chr17:38976546 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_000421.5(KRT10):c.1457_1458insAAGCT (p.His487fs) insertion not provided [RCV001530894] Chr17:40819077..40819078 [GRCh38]
Chr17:38975329..38975330 [GRCh37]
Chr17:17q21.2		 benign
NM_000421.5(KRT10):c.1638C>A (p.Ser546Arg) single nucleotide variant not provided [RCV001553003] Chr17:40818897 [GRCh38]
Chr17:38975149 [GRCh37]
Chr17:17q21.2		 benign|likely benign
NM_000421.5(KRT10):c.1413C>A (p.Gly471=) single nucleotide variant not provided [RCV001659220] Chr17:40819122 [GRCh38]
Chr17:38975374 [GRCh37]
Chr17:17q21.2		 benign
NC_000017.11:g.40822818T>C single nucleotide variant not provided [RCV001639576] Chr17:40822818 [GRCh38]
Chr17:38979070 [GRCh37]
Chr17:17q21.2		 benign
NM_000421.5(KRT10):c.868-41G>A single nucleotide variant not provided [RCV001637519] Chr17:40820464 [GRCh38]
Chr17:38976716 [GRCh37]
Chr17:17q21.2		 benign
NM_000421.5(KRT10):c.711-79C>T single nucleotide variant not provided [RCV001678076] Chr17:40820746 [GRCh38]
Chr17:38976998 [GRCh37]
Chr17:17q21.2		 benign
NM_000421.5(KRT10):c.*65A>G single nucleotide variant not provided [RCV001708386] Chr17:40818411 [GRCh38]
Chr17:38974663 [GRCh37]
Chr17:17q21.2		 benign
NM_000421.5(KRT10):c.868-31T>C single nucleotide variant not provided [RCV001651389] Chr17:40820454 [GRCh38]
Chr17:38976706 [GRCh37]
Chr17:17q21.2		 benign
NM_000421.5(KRT10):c.711-129A>G single nucleotide variant not provided [RCV001652717] Chr17:40820796 [GRCh38]
Chr17:38977048 [GRCh37]
Chr17:17q21.2		 benign
NM_000421.5(KRT10):c.1403_1417delinsA (p.Ser468fs) indel Congenital reticular ichthyosiform erythroderma [RCV001619785] Chr17:40819118..40819132 [GRCh38]
Chr17:38975370..38975384 [GRCh37]
Chr17:17q21.2		 pathogenic
NM_000421.5(KRT10):c.98C>T (p.Ser33Phe) single nucleotide variant Epidermolytic ichthyosis [RCV001332428]|not provided [RCV004692557] Chr17:40822488 [GRCh38]
Chr17:38978740 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_000421.5(KRT10):c.1654AGCTCCGGCGGCGGATACGGCGGCGGCAGC[3] (p.556GYGGGSSSGG[3]) microsatellite Epidermolytic ichthyosis [RCV002476626]|not provided [RCV001355196] Chr17:40818851..40818852 [GRCh38]
Chr17:38975103..38975104 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_000421.5(KRT10):c.1457_1458insAAGCTCCGGCG (p.His487fs) insertion Bullous ichthyosiform erythroderma [RCV001336849] Chr17:40819077..40819078 [GRCh38]
Chr17:38975329..38975330 [GRCh37]
Chr17:17q21.2		 pathogenic
NM_000421.5(KRT10):c.759C>T (p.Asn253=) single nucleotide variant not provided [RCV001311881] Chr17:40820619 [GRCh38]
Chr17:38976871 [GRCh37]
Chr17:17q21.2		 likely benign
NM_000421.5(KRT10):c.257G>A (p.Arg86His) single nucleotide variant KRT10-related disorder [RCV003928836]|not provided [RCV001311882] Chr17:40822329 [GRCh38]
Chr17:38978581 [GRCh37]
Chr17:17q21.2		 benign|likely benign
NM_000421.5(KRT10):c.1635del (p.Ser546fs) deletion Bullous ichthyosiform erythroderma [RCV001293884] Chr17:40818900 [GRCh38]
Chr17:38975152 [GRCh37]
Chr17:17q21.2		 pathogenic
NM_000421.5(KRT10):c.1640_1641insGGATA (p.Gly548fs) insertion Bullous ichthyosiform erythroderma [RCV001333428] Chr17:40818894..40818895 [GRCh38]
Chr17:38975146..38975147 [GRCh37]
Chr17:17q21.2		 pathogenic
NM_000421.5(KRT10):c.71G>A (p.Gly24Glu) single nucleotide variant not provided [RCV001358374] Chr17:40822515 [GRCh38]
Chr17:38978767 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_000421.5(KRT10):c.135A>G (p.Gly45=) single nucleotide variant KRT10-related disorder [RCV003948566]|not provided [RCV001528700] Chr17:40822451 [GRCh38]
Chr17:38978703 [GRCh37]
Chr17:17q21.2		 benign|likely benign
NM_000421.5(KRT10):c.711-59G>T single nucleotide variant not provided [RCV001687741] Chr17:40820726 [GRCh38]
Chr17:38976978 [GRCh37]
Chr17:17q21.2		 benign
NM_000421.5(KRT10):c.1029+14C>T single nucleotide variant not provided [RCV001616043] Chr17:40820248 [GRCh38]
Chr17:38976500 [GRCh37]
Chr17:17q21.2		 benign
NM_000421.5(KRT10):c.*42C>T single nucleotide variant not provided [RCV001696614] Chr17:40818434 [GRCh38]
Chr17:38974686 [GRCh37]
Chr17:17q21.2		 benign
NM_000421.5(KRT10):c.470T>C (p.Leu157Pro) single nucleotide variant Congenital reticular ichthyosiform erythroderma [RCV001730093] Chr17:40822116 [GRCh38]
Chr17:38978368 [GRCh37]
Chr17:17q21.2		 pathogenic
NM_000421.5(KRT10):c.363del (p.Phe122fs) deletion not provided [RCV001782355] Chr17:40822223 [GRCh38]
Chr17:38978475 [GRCh37]
Chr17:17q21.2		 likely pathogenic
NM_000421.5(KRT10):c.1681_1683dup (p.Ser563dup) duplication not provided [RCV001885112] Chr17:40818851..40818852 [GRCh38]
Chr17:38975103..38975104 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_000421.5(KRT10):c.1458_1459insTACGGCGGCGGCCACGGCGG (p.His487fs) insertion not provided [RCV001782356] Chr17:40819076..40819077 [GRCh38]
Chr17:38975328..38975329 [GRCh37]
Chr17:17q21.2		 likely pathogenic
NM_000421.5(KRT10):c.1460_1461insGTTC (p.His487fs) insertion not provided [RCV001782357] Chr17:40819074..40819075 [GRCh38]
Chr17:38975326..38975327 [GRCh37]
Chr17:17q21.2		 likely pathogenic
NM_000421.5(KRT10):c.1632C>A (p.Gly544=) single nucleotide variant not provided [RCV001815822] Chr17:40818903 [GRCh38]
Chr17:38975155 [GRCh37]
Chr17:17q21.2		 benign|likely benign
NM_000421.5(KRT10):c.1345T>C (p.Tyr449His) single nucleotide variant not provided [RCV001912733] Chr17:40819545 [GRCh38]
Chr17:38975797 [GRCh37]
Chr17:17q21.2		 pathogenic|likely pathogenic
NM_000421.5(KRT10):c.1606GGC[7] (p.Gly541dup) microsatellite not provided [RCV002023220] Chr17:40818911..40818912 [GRCh38]
Chr17:38975163..38975164 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_000421.5(KRT10):c.1428AAGCTCCGGCGGCGG[1] (p.477SSGGG[1]) microsatellite not provided [RCV001877635] Chr17:40819078..40819092 [GRCh38]
Chr17:38975330..38975344 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_000421.5(KRT10):c.1650_1667del (p.Ser551_Gly556del) deletion not provided [RCV001978762] Chr17:40818868..40818885 [GRCh38]
Chr17:38975120..38975137 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_000421.5(KRT10):c.11G>C (p.Arg4Pro) single nucleotide variant not provided [RCV001991857] Chr17:40822575 [GRCh38]
Chr17:38978827 [GRCh37]
Chr17:17q21.2		 likely benign
NM_000421.5(KRT10):c.1468G>A (p.Gly490Ser) single nucleotide variant Inborn genetic diseases [RCV003007143]|not provided [RCV002129758] Chr17:40819067 [GRCh38]
Chr17:38975319 [GRCh37]
Chr17:17q21.2		 benign|uncertain significance
NM_000421.5(KRT10):c.1724G>T (p.Gly575Val) single nucleotide variant KRT10-related disorder [RCV004756361]|not provided [RCV002129600] Chr17:40818811 [GRCh38]
Chr17:38975063 [GRCh37]
Chr17:17q21.2		 benign|likely benign
NM_000421.5(KRT10):c.1520_1521insCTACGGGGGCGG (p.Gly507_Ser508insTyrGlyGlyGly) insertion KRT10-related disorder [RCV003951013]|not provided [RCV002088364] Chr17:40819014..40819015 [GRCh38]
Chr17:38975266..38975267 [GRCh37]
Chr17:17q21.2		 benign|likely benign
NM_000421.5(KRT10):c.1617C>T (p.Gly539=) single nucleotide variant not provided [RCV002146347] Chr17:40818918 [GRCh38]
Chr17:38975170 [GRCh37]
Chr17:17q21.2		 likely benign
NM_000421.5(KRT10):c.302= (p.Ile101=) variation not provided [RCV002084523] Chr17:40822284 [GRCh38]
Chr17:38978536 [GRCh37]
Chr17:17q21.2		 benign
NM_000421.5(KRT10):c.1640C>A (p.Ser547Tyr) single nucleotide variant not provided [RCV002127511] Chr17:40818895 [GRCh38]
Chr17:38975147 [GRCh37]
Chr17:17q21.2		 benign
NM_000421.5(KRT10):c.125C>T (p.Ser42Phe) single nucleotide variant not provided [RCV002130600] Chr17:40822461 [GRCh38]
Chr17:38978713 [GRCh37]
Chr17:17q21.2		 likely benign
NM_000421.5(KRT10):c.1569_1592dup (p.Ser525_Gly532dup) duplication KRT10-related disorder [RCV003950944]|not provided [RCV002212443] Chr17:40818942..40818943 [GRCh38]
Chr17:38975194..38975195 [GRCh37]
Chr17:17q21.2		 benign|likely benign
NM_000421.5(KRT10):c.1524C>G (p.Ser508Arg) single nucleotide variant KRT10-related disorder [RCV003958750]|not provided [RCV002132424] Chr17:40819011 [GRCh38]
Chr17:38975263 [GRCh37]
Chr17:17q21.2		 benign
NM_000421.5(KRT10):c.1528GGC[4] (p.Gly512dup) microsatellite not provided [RCV002093607] Chr17:40818998..40818999 [GRCh38]
Chr17:38975250..38975251 [GRCh37]
Chr17:17q21.2		 likely benign
NM_000421.5(KRT10):c.312G>A (p.Gly104=) single nucleotide variant not provided [RCV002174507] Chr17:40822274 [GRCh38]
Chr17:38978526 [GRCh37]
Chr17:17q21.2		 benign
NM_000421.5(KRT10):c.1597G>A (p.Gly533Ser) single nucleotide variant not provided [RCV002113262] Chr17:40818938 [GRCh38]
Chr17:38975190 [GRCh37]
Chr17:17q21.2		 benign
NM_000421.5(KRT10):c.129T>C (p.Leu43=) single nucleotide variant KRT10-related disorder [RCV004756367]|not provided [RCV002081536] Chr17:40822457 [GRCh38]
Chr17:38978709 [GRCh37]
Chr17:17q21.2		 likely benign
NM_000421.5(KRT10):c.153G>T (p.Gly51=) single nucleotide variant not provided [RCV002098502] Chr17:40822433 [GRCh38]
Chr17:38978685 [GRCh37]
Chr17:17q21.2		 benign
NM_000421.5(KRT10):c.1629G>C (p.Gly543=) single nucleotide variant not provided [RCV002220875] Chr17:40818906 [GRCh38]
Chr17:38975158 [GRCh37]
Chr17:17q21.2		 likely benign
NM_000421.5(KRT10):c.302T>G (p.Ile101Ser) single nucleotide variant not provided [RCV002117882] Chr17:40822284 [GRCh38]
Chr17:38978536 [GRCh37]
Chr17:17q21.2		 benign
NM_000421.5(KRT10):c.44G>A (p.Arg15His) single nucleotide variant not provided [RCV002144601] Chr17:40822542 [GRCh38]
Chr17:38978794 [GRCh37]
Chr17:17q21.2		 benign
NM_000421.5(KRT10):c.1593T>G (p.Gly531=) single nucleotide variant not provided [RCV002200075] Chr17:40818942 [GRCh38]
Chr17:38975194 [GRCh37]
Chr17:17q21.2		 benign
NM_000421.5(KRT10):c.1651AGC[3] (p.Ser553dup) microsatellite KRT10-related disorder [RCV003958502]|not provided [RCV002179472] Chr17:40818878..40818879 [GRCh38]
Chr17:38975130..38975131 [GRCh37]
Chr17:17q21.2		 benign|likely benign
NM_000421.5(KRT10):c.756C>T (p.Ile252=) single nucleotide variant not provided [RCV002098598] Chr17:40820622 [GRCh38]
Chr17:38976874 [GRCh37]
Chr17:17q21.2		 benign
NM_000421.5(KRT10):c.1588T>C (p.Tyr530His) single nucleotide variant not provided [RCV002265162] Chr17:40818947 [GRCh38]
Chr17:38975199 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_000421.5(KRT10):c.470T>G (p.Leu157Arg) single nucleotide variant Annular epidermolytic ichthyosis [RCV002283888] Chr17:40822116 [GRCh38]
Chr17:38978368 [GRCh37]
Chr17:17q21.2		 likely pathogenic
NM_000421.5(KRT10):c.1288A>G (p.Thr430Ala) single nucleotide variant Inborn genetic diseases [RCV003253832] Chr17:40819602 [GRCh38]
Chr17:38975854 [GRCh37]
Chr17:17q21.2		 likely benign
NM_000421.5(KRT10):c.201T>A (p.Phe67Leu) single nucleotide variant not provided [RCV002726586] Chr17:40822385 [GRCh38]
Chr17:38978637 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_000421.5(KRT10):c.1460A>G (p.His487Arg) single nucleotide variant not provided [RCV003075196] Chr17:40819075 [GRCh38]
Chr17:38975327 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_000421.5(KRT10):c.321C>T (p.Phe107=) single nucleotide variant not provided [RCV002994658] Chr17:40822265 [GRCh38]
Chr17:38978517 [GRCh37]
Chr17:17q21.2		 benign|likely benign
NM_000421.5(KRT10):c.1703C>T (p.Ser568Phe) single nucleotide variant Inborn genetic diseases [RCV002947035] Chr17:40818832 [GRCh38]
Chr17:38975084 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_000421.5(KRT10):c.1622G>T (p.Gly541Val) single nucleotide variant Inborn genetic diseases [RCV002778095] Chr17:40818913 [GRCh38]
Chr17:38975165 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_000421.5(KRT10):c.789C>T (p.Thr263=) single nucleotide variant not provided [RCV002994706] Chr17:40820589 [GRCh38]
Chr17:38976841 [GRCh37]
Chr17:17q21.2		 benign|likely benign
NM_000421.5(KRT10):c.1506AAGCTCCGGCGGCGG[3] (p.Gly512_Tyr513insSerSerGlyGlyGly) microsatellite KRT10-related disorder [RCV003961190]|not provided [RCV002904027] Chr17:40818999..40819000 [GRCh38]
Chr17:38975251..38975252 [GRCh37]
Chr17:17q21.2		 likely benign|uncertain significance
NM_000421.5(KRT10):c.1225G>A (p.Ala409Thr) single nucleotide variant Inborn genetic diseases [RCV002844218] Chr17:40819665 [GRCh38]
Chr17:38975917 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_000421.5(KRT10):c.657C>A (p.Asn219Lys) single nucleotide variant not provided [RCV002820334] Chr17:40821088 [GRCh38]
Chr17:38977340 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_000421.5(KRT10):c.1418A>C (p.Tyr473Ser) single nucleotide variant not provided [RCV002918715] Chr17:40819117 [GRCh38]
Chr17:38975369 [GRCh37]
Chr17:17q21.2		 likely benign
NM_000421.5(KRT10):c.1469G>C (p.Gly490Ala) single nucleotide variant Inborn genetic diseases [RCV002802911] Chr17:40819066 [GRCh38]
Chr17:38975318 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_000421.5(KRT10):c.1564_1587del (p.His522_Gly529del) deletion not provided [RCV002957157] Chr17:40818948..40818971 [GRCh38]
Chr17:38975200..38975223 [GRCh37]
Chr17:17q21.2		 benign
NM_000421.5(KRT10):c.1536C>T (p.Gly512=) single nucleotide variant not provided [RCV002596237] Chr17:40818999 [GRCh38]
Chr17:38975251 [GRCh37]
Chr17:17q21.2		 likely benign
NM_000421.5(KRT10):c.1495T>C (p.Tyr499His) single nucleotide variant KRT10-related disorder [RCV004756437]|not provided [RCV002932885] Chr17:40819040 [GRCh38]
Chr17:38975292 [GRCh37]
Chr17:17q21.2		 likely benign
NM_000421.5(KRT10):c.1537T>C (p.Tyr513His) single nucleotide variant Inborn genetic diseases [RCV002986167]|KRT10-related disorder [RCV003928920] Chr17:40818998 [GRCh38]
Chr17:38975250 [GRCh37]
Chr17:17q21.2		 likely benign|uncertain significance
NM_000421.5(KRT10):c.305T>C (p.Phe102Ser) single nucleotide variant not provided [RCV002957158] Chr17:40822281 [GRCh38]
Chr17:38978533 [GRCh37]
Chr17:17q21.2		 benign
NM_000421.5(KRT10):c.322G>A (p.Gly108Arg) single nucleotide variant Inborn genetic diseases [RCV002809760] Chr17:40822264 [GRCh38]
Chr17:38978516 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_000421.5(KRT10):c.1675_1676insCAGGCAGCAGCTCCGGCGGCGGATACGGCG (p.Gly558_Gly559insAlaGlySerSerSerGlyGlyGlyTyrGly) insertion not provided [RCV003061223] Chr17:40818859..40818860 [GRCh38]
Chr17:38975111..38975112 [GRCh37]
Chr17:17q21.2		 likely benign
NM_000421.5(KRT10):c.97T>A (p.Ser33Thr) single nucleotide variant not provided [RCV003089251] Chr17:40822489 [GRCh38]
Chr17:38978741 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_000421.5(KRT10):c.1468G>C (p.Gly490Arg) single nucleotide variant Inborn genetic diseases [RCV002680457] Chr17:40819067 [GRCh38]
Chr17:38975319 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_000421.5(KRT10):c.1634G>A (p.Gly545Asp) single nucleotide variant not provided [RCV002658435] Chr17:40818901 [GRCh38]
Chr17:38975153 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_000421.5(KRT10):c.1209G>C (p.Gln403His) single nucleotide variant not provided [RCV002606292] Chr17:40819681 [GRCh38]
Chr17:38975933 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_000421.5(KRT10):c.1749-10A>G single nucleotide variant Epidermolytic ichthyosis [RCV003224699] Chr17:40818492 [GRCh38]
Chr17:38974744 [GRCh37]
Chr17:17q21.2		 likely benign
NM_000421.5(KRT10):c.38C>T (p.Ser13Phe) single nucleotide variant Inborn genetic diseases [RCV003304137] Chr17:40822548 [GRCh38]
Chr17:38978800 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_000421.5(KRT10):c.1374-1G>A single nucleotide variant Congenital reticular ichthyosiform erythroderma [RCV003140427]|Epidermolytic hyperkeratosis 2A, autosomal dominant [RCV003988887] Chr17:40819162 [GRCh38]
Chr17:38975414 [GRCh37]
Chr17:17q21.2		 likely pathogenic
NM_000421.5(KRT10):c.546T>A (p.Tyr182Ter) single nucleotide variant Epidermolytic ichthyosis [RCV003227577] Chr17:40822040 [GRCh38]
Chr17:38978292 [GRCh37]
Chr17:17q21.2		 likely pathogenic
NM_000421.5(KRT10):c.465C>A (p.Asp155Glu) single nucleotide variant not provided [RCV003571669] Chr17:40822121 [GRCh38]
Chr17:38978373 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_000421.5(KRT10):c.1029+5_1029+9del deletion not provided [RCV003487981] Chr17:40820253..40820257 [GRCh38]
Chr17:38976505..38976509 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_000421.5(KRT10):c.458T>C (p.Leu153Pro) single nucleotide variant KRT10-related disorder [RCV003408554] Chr17:40822128 [GRCh38]
Chr17:38978380 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_000421.5(KRT10):c.1560C>T (p.Gly520=) single nucleotide variant not provided [RCV003413225] Chr17:40818975 [GRCh38]
Chr17:38975227 [GRCh37]
Chr17:17q21.2		 likely benign
NM_000421.5(KRT10):c.1559G>T (p.Gly520Val) single nucleotide variant not provided [RCV003413226] Chr17:40818976 [GRCh38]
Chr17:38975228 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_000421.5(KRT10):c.1482T>C (p.Ser494=) single nucleotide variant KRT10-related disorder [RCV004756518]|not provided [RCV003577431] Chr17:40819053 [GRCh38]
Chr17:38975305 [GRCh37]
Chr17:17q21.2		 likely benign
NM_000421.5(KRT10):c.710+15C>T single nucleotide variant not provided [RCV003879979] Chr17:40821020 [GRCh38]
Chr17:38977272 [GRCh37]
Chr17:17q21.2		 likely benign
NM_000421.5(KRT10):c.354TGGAGGCGGCTTTGG[1] (p.121GFGGG[1]) microsatellite not provided [RCV003829048] Chr17:40822203..40822217 [GRCh38]
Chr17:38978455..38978469 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_000421.5(KRT10):c.867+16T>C single nucleotide variant not provided [RCV003825153] Chr17:40820495 [GRCh38]
Chr17:38976747 [GRCh37]
Chr17:17q21.2		 likely benign
NM_000421.5(KRT10):c.1389A>C (p.Gly463=) single nucleotide variant not provided [RCV003811708] Chr17:40819146 [GRCh38]
Chr17:38975398 [GRCh37]
Chr17:17q21.2		 likely benign
NM_000421.5(KRT10):c.1422C>A (p.Gly474=) single nucleotide variant not provided [RCV003811706] Chr17:40819113 [GRCh38]
Chr17:38975365 [GRCh37]
Chr17:17q21.2		 likely benign
NM_000421.5(KRT10):c.514T>C (p.Tyr172His) single nucleotide variant not provided [RCV003836570] Chr17:40822072 [GRCh38]
Chr17:38978324 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_000421.5(KRT10):c.1407C>T (p.Phe469=) single nucleotide variant not provided [RCV003856140] Chr17:40819128 [GRCh38]
Chr17:38975380 [GRCh37]
Chr17:17q21.2		 likely benign
NM_000421.5(KRT10):c.1528_1554dup (p.Ser518_Ser519insGlyGlyGlyTyrGlyGlyGlySerSer) duplication KRT10-related disorder [RCV003909055]|not provided [RCV003580537] Chr17:40818980..40818981 [GRCh38]
Chr17:38975232..38975233 [GRCh37]
Chr17:17q21.2		 likely benign|uncertain significance
NM_000421.5(KRT10):c.1749-16dup duplication not provided [RCV003671686] Chr17:40818497..40818498 [GRCh38]
Chr17:38974749..38974750 [GRCh37]
Chr17:17q21.2		 benign
NM_000421.5(KRT10):c.1391G>A (p.Arg464His) single nucleotide variant not provided [RCV003811707] Chr17:40819144 [GRCh38]
Chr17:38975396 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_000421.5(KRT10):c.1448C>A (p.Ser483Tyr) single nucleotide variant not provided [RCV003548748] Chr17:40819087 [GRCh38]
Chr17:38975339 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_000421.5(KRT10):c.371G>T (p.Gly124Val) single nucleotide variant not provided [RCV003548364] Chr17:40822215 [GRCh38]
Chr17:38978467 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_000421.5(KRT10):c.1749-16del deletion not provided [RCV003834232] Chr17:40818498 [GRCh38]
Chr17:38974750 [GRCh37]
Chr17:17q21.2		 benign
NM_000421.5(KRT10):c.1546GGAAGCTCCAGCGGCGGCCACGGCGGC[3] (p.Gly524_Ser525insGlySerSerSerGlyGlyHisGlyGlyGlySerSerSerGlyGlyHisGlyGly) microsatellite not provided [RCV003848716] Chr17:40818962..40818963 [GRCh38]
Chr17:38975214..38975215 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_000421.5(KRT10):c.1379G>A (p.Gly460Glu) single nucleotide variant not provided [RCV003730000] Chr17:40819156 [GRCh38]
Chr17:38975408 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_000421.5(KRT10):c.462T>G (p.Asn154Lys) single nucleotide variant not provided [RCV003566475] Chr17:40822124 [GRCh38]
Chr17:38978376 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_000421.5(KRT10):c.734G>A (p.Arg245His) single nucleotide variant not provided [RCV003728884] Chr17:40820644 [GRCh38]
Chr17:38976896 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_000421.5(KRT10):c.1399_1416dup (p.Gly472_Tyr473insGlySerPheGlyGlyGly) duplication not provided [RCV003840880] Chr17:40819118..40819119 [GRCh38]
Chr17:38975370..38975371 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_000421.5(KRT10):c.107T>C (p.Ile36Thr) single nucleotide variant not provided [RCV003683524] Chr17:40822479 [GRCh38]
Chr17:38978731 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_000421.5(KRT10):c.935T>C (p.Val312Ala) single nucleotide variant not provided [RCV003732381] Chr17:40820356 [GRCh38]
Chr17:38976608 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_000421.5(KRT10):c.1506AAGCTCCGGCGGCGG[4] (p.Gly512_Tyr513insSerSerGlyGlyGlySerSerGlyGlyGly) microsatellite not provided [RCV003552986] Chr17:40818999..40819000 [GRCh38]
Chr17:38975251..38975252 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_000421.5(KRT10):c.1488C>A (p.Gly496=) single nucleotide variant KRT10-related disorder [RCV004756532]|not provided [RCV003722191] Chr17:40819047 [GRCh38]
Chr17:38975299 [GRCh37]
Chr17:17q21.2		 likely benign
NM_000421.5(KRT10):c.1470C>T (p.Gly490=) single nucleotide variant not provided [RCV003722192] Chr17:40819065 [GRCh38]
Chr17:38975317 [GRCh37]
Chr17:17q21.2		 likely benign
NM_000421.5(KRT10):c.1500A>C (p.Gly500=) single nucleotide variant not provided [RCV003734831] Chr17:40819035 [GRCh38]
Chr17:38975287 [GRCh37]
Chr17:17q21.2		 likely benign
NM_000421.5(KRT10):c.1476C>A (p.Gly492=) single nucleotide variant not provided [RCV003823614] Chr17:40819059 [GRCh38]
Chr17:38975311 [GRCh37]
Chr17:17q21.2		 likely benign
NM_000421.5(KRT10):c.1687_1688delinsCC (p.Ser563Pro) indel not provided [RCV003843218] Chr17:40818847..40818848 [GRCh38]
Chr17:38975099..38975100 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_000421.5(KRT10):c.49GGA[6] (p.Gly23_Gly24del) microsatellite not provided [RCV003562489] Chr17:40822514..40822519 [GRCh38]
Chr17:38978766..38978771 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_000421.5(KRT10):c.742G>A (p.Val248Met) single nucleotide variant not provided [RCV003556428] Chr17:40820636 [GRCh38]
Chr17:38976888 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_000421.5(KRT10):c.1459_1460delinsTC (p.His487Ser) indel not provided [RCV003733405] Chr17:40819075..40819076 [GRCh38]
Chr17:38975327..38975328 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_000421.5(KRT10):c.36T>C (p.Ser12=) single nucleotide variant KRT10-related disorder [RCV003911997] Chr17:40822550 [GRCh38]
Chr17:38978802 [GRCh37]
Chr17:17q21.2		 likely benign
NM_000421.5(KRT10):c.1443_1445del (p.Ser483del) deletion KRT10-related disorder [RCV003954520] Chr17:40819090..40819092 [GRCh38]
Chr17:38975342..38975344 [GRCh37]
Chr17:17q21.2		 likely benign
NM_000421.5(KRT10):c.1623C>A (p.Gly541=) single nucleotide variant KRT10-related disorder [RCV003979294] Chr17:40818912 [GRCh38]
Chr17:38975164 [GRCh37]
Chr17:17q21.2		 likely benign
NM_000421.5(KRT10):c.1629_1643del (p.543GGGSS[1]) deletion KRT10-related disorder [RCV003962114] Chr17:40818892..40818906 [GRCh38]
Chr17:38975144..38975158 [GRCh37]
Chr17:17q21.2		 benign
NM_000421.5(KRT10):c.1448_1459del (p.Ser483_His487delinsTyr) deletion KRT10-related disorder [RCV003959153] Chr17:40819076..40819087 [GRCh38]
Chr17:38975328..38975339 [GRCh37]
Chr17:17q21.2		 likely benign
NM_000421.5(KRT10):c.1528G>A (p.Gly510Ser) single nucleotide variant KRT10-related disorder [RCV003917373] Chr17:40819007 [GRCh38]
Chr17:38975259 [GRCh37]
Chr17:17q21.2		 likely benign
NM_000421.5(KRT10):c.1625A>C (p.Tyr542Ser) single nucleotide variant KRT10-related disorder [RCV003937078] Chr17:40818910 [GRCh38]
Chr17:38975162 [GRCh37]
Chr17:17q21.2		 benign
NM_000421.5(KRT10):c.1606GGC[3] (p.Gly539_Gly541del) microsatellite KRT10-related disorder [RCV003971432] Chr17:40818912..40818920 [GRCh38]
Chr17:38975164..38975172 [GRCh37]
Chr17:17q21.2		 benign
NM_000421.5(KRT10):c.1156-4T>G single nucleotide variant KRT10-related disorder [RCV003926892] Chr17:40819738 [GRCh38]
Chr17:38975990 [GRCh37]
Chr17:17q21.2		 likely benign
NM_000421.5(KRT10):c.1459_1494del (p.His487_Gly498del) deletion KRT10-related disorder [RCV003981229] Chr17:40819041..40819076 [GRCh38]
Chr17:38975293..38975328 [GRCh37]
Chr17:17q21.2		 likely benign
NM_000421.5(KRT10):c.1606GGC[5] (p.Gly541del) microsatellite KRT10-related disorder [RCV003982236] Chr17:40818912..40818914 [GRCh38]
Chr17:38975164..38975166 [GRCh37]
Chr17:17q21.2		 benign
NM_000421.5(KRT10):c.1335_1337del (p.Glu445_Ile446delinsAsp) deletion not provided [RCV004594024] Chr17:40819553..40819555 [GRCh38]
Chr17:38975805..38975807 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_000421.5(KRT10):c.1541G>A (p.Gly514Glu) single nucleotide variant Inborn genetic diseases [RCV004412168] Chr17:40818994 [GRCh38]
Chr17:38975246 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_000421.5(KRT10):c.1541G>C (p.Gly514Ala) single nucleotide variant Inborn genetic diseases [RCV004412169] Chr17:40818994 [GRCh38]
Chr17:38975246 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_000421.5(KRT10):c.1304T>C (p.Leu435Pro) single nucleotide variant Ichthyosis hystrix gravior [RCV004594023] Chr17:40819586 [GRCh38]
Chr17:38975838 [GRCh37]
Chr17:17q21.2		 pathogenic
NM_000421.5(KRT10):c.175C>T (p.Arg59Cys) single nucleotide variant Inborn genetic diseases [RCV004644417] Chr17:40822411 [GRCh38]
Chr17:38978663 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_000421.5(KRT10):c.1477G>A (p.Gly493Ser) single nucleotide variant Inborn genetic diseases [RCV004644418] Chr17:40819058 [GRCh38]
Chr17:38975310 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_000421.5(KRT10):c.1471C>T (p.His491Tyr) single nucleotide variant Inborn genetic diseases [RCV004644419] Chr17:40819064 [GRCh38]
Chr17:38975316 [GRCh37]
Chr17:17q21.2		 likely benign
I107T single nucleotide variant Ichthyosis, annular epidermolytic 1 [RCV004594025]   pathogenic
NM_000421.5(KRT10):c.207C>A (p.Gly69=) single nucleotide variant KRT10-related disorder [RCV004757023] Chr17:40822379 [GRCh38]
Chr17:38978631 [GRCh37]
Chr17:17q21.2		 likely benign
GRCh37/hg19 17q12-22(chr17:41196270-41277589) copy number loss Breast-ovarian cancer, familial, susceptibility to, 1 [RCV004759419] Chr17:41196270..41277589 [GRCh37]
Chr17:17q12-22		 pathogenic
NM_000421.5(KRT10):c.264C>T (p.Ser88=) single nucleotide variant KRT10-related disorder [RCV004756684] Chr17:40822322 [GRCh38]
Chr17:38978574 [GRCh37]
Chr17:17q21.2		 likely benign
NM_000421.5(KRT10):c.1542G>C (p.Gly514=) single nucleotide variant KRT10-related disorder [RCV004756815] Chr17:40818993 [GRCh38]
Chr17:38975245 [GRCh37]
Chr17:17q21.2		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:164
Count of miRNA genes:142
Interacting mature miRNAs:157
Transcripts:ENST00000269576
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
STS-X14487  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371738,974,671 - 38,974,899UniSTSGRCh37
Build 361736,228,197 - 36,228,425RGDNCBI36
Celera1735,636,222 - 35,636,450RGD
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map17q21UniSTS
HuRef1734,769,031 - 34,769,259UniSTS
GeneMap99-GB4 RH Map17308.91UniSTS
NCBI RH Map17487.0UniSTS
RH75831  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371738,974,484 - 38,974,709UniSTSGRCh37
Build 361736,228,010 - 36,228,235RGDNCBI36
Celera1735,636,035 - 35,636,260RGD
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map17q21UniSTS
HuRef1734,768,844 - 34,769,069UniSTS
GDB:190618  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371738,975,028 - 38,975,482UniSTSGRCh37
Build 361736,228,554 - 36,229,008RGDNCBI36
Celera1735,636,579 - 35,637,033RGD
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map17q21UniSTS
HuRef1734,769,388 - 34,769,842UniSTS
GDB:196333  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371738,975,051 - 38,975,484UniSTSGRCh37
Build 361736,228,577 - 36,229,010RGDNCBI36
Celera1735,636,602 - 35,637,035RGD
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map17q21UniSTS
HuRef1734,769,411 - 34,769,844UniSTS
GDB:196685  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371738,976,593 - 38,977,361UniSTSGRCh37
Build 361736,230,119 - 36,230,887RGDNCBI36
Celera1735,638,144 - 35,638,912RGD
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map17q21UniSTS
HuRef1734,770,953 - 34,771,721UniSTS
GDB:196997  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371738,975,051 - 38,975,484UniSTSGRCh37
Build 361736,228,577 - 36,229,010RGDNCBI36
Celera1735,636,602 - 35,637,035RGD
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map17q21UniSTS
HuRef1734,769,411 - 34,769,844UniSTS
DXS8276  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371738,974,580 - 38,974,714UniSTSGRCh37
Build 361736,228,106 - 36,228,240RGDNCBI36
Celera1735,636,131 - 35,636,265RGD
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map17q21UniSTS
HuRef1734,768,940 - 34,769,074UniSTS
GeneMap99-GB4 RH Map17315.81UniSTS
NCBI RH Map17439.7UniSTS
KRT10_7811  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371738,974,247 - 38,974,682UniSTSGRCh37
Build 361736,227,773 - 36,228,208RGDNCBI36
Celera1735,635,798 - 35,636,233RGD
HuRef1734,768,607 - 34,769,042UniSTS
STS-M77663  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371738,974,482 - 38,974,709UniSTSGRCh37
Build 361736,228,008 - 36,228,235RGDNCBI36
Celera1735,636,033 - 35,636,260RGD
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map17q21UniSTS
HuRef1734,768,842 - 34,769,069UniSTS
GeneMap99-GB4 RH Map17304.54UniSTS
NCBI RH Map17352.4UniSTS


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
1204 2432 2788 2245 4942 1723 2345 4 622 1948 464 2268 7281 6454 52 3708 847 1731 1612 170

Sequence


Ensembl Acc Id: ENST00000269576   ⟹   ENSP00000269576
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1740,818,117 - 40,822,614 (-)Ensembl
Ensembl Acc Id: ENST00000635956   ⟹   ENSP00000490524
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1740,818,117 - 40,822,614 (-)Ensembl
RefSeq Acc Id: NM_000421   ⟹   NP_000412
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381740,818,117 - 40,822,614 (-)NCBI
GRCh371738,974,369 - 38,978,863 (-)ENTREZGENE
Build 361736,227,895 - 36,232,373 (-)NCBI Archive
HuRef1734,768,729 - 34,773,223 (-)ENTREZGENE
CHM1_11739,209,679 - 39,214,200 (-)NCBI
T2T-CHM13v2.01741,682,437 - 41,686,934 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001379366   ⟹   NP_001366295
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381740,818,117 - 40,822,614 (-)NCBI
T2T-CHM13v2.01741,682,437 - 41,686,934 (-)NCBI
Sequence:
RefSeq Acc Id: NP_000412   ⟸   NM_000421
- Peptide Label: isoform 1
- UniProtKB: Q14664 (UniProtKB/Swiss-Prot),   P13645 (UniProtKB/Swiss-Prot),   Q8N175 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001366295   ⟸   NM_001379366
- Peptide Label: isoform 2
- UniProtKB: A0A1B0GVI3 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000490524   ⟸   ENST00000635956
Ensembl Acc Id: ENSP00000269576   ⟸   ENST00000269576
Protein Domains
IF rod

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P13645-F1-model_v2 AlphaFold P13645 1-584 view protein structure

Promoters
RGD ID:6794265
Promoter ID:HG_KWN:26082
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   Jurkat
Transcripts:OTTHUMT00000257213,   UC010CXD.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361736,229,556 - 36,230,462 (-)MPROMDB
RGD ID:6794267
Promoter ID:HG_KWN:26083
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:OTTHUMT00000257875
Position:
Human AssemblyChrPosition (strand)Source
Build 361736,232,111 - 36,232,611 (-)MPROMDB
RGD ID:7234955
Promoter ID:EPDNEW_H23224
Type:multiple initiation site
Name:KRT10_1
Description:keratin 10
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381740,822,614 - 40,822,674EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6413 AgrOrtholog
COSMIC KRT10 COSMIC
Ensembl Genes ENSG00000186395 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000269576 ENTREZGENE
  ENST00000269576.6 UniProtKB/Swiss-Prot
  ENST00000635956 ENTREZGENE
  ENST00000635956.2 UniProtKB/TrEMBL
Gene3D-CATH 1.20.5.170 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Single helix bin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Vasodilator-stimulated phosphoprotein UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000186395 GTEx
HGNC ID HGNC:6413 ENTREZGENE
Human Proteome Map KRT10 Human Proteome Map
InterPro IF_conserved UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IF_rod_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Keratin_I UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3858 UniProtKB/Swiss-Prot
NCBI Gene 3858 ENTREZGENE
OMIM 148080 OMIM
PANTHER KERATIN, TYPE I CYTOSKELETAL 10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR23239 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Filament UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30200 PharmGKB
PRINTS TYPE1KERATIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE IF_ROD_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IF_ROD_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART Filament UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Intermediate filament protein, coiled coil region UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Prefoldin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A1B0GVI3 ENTREZGENE, UniProtKB/TrEMBL
  K1C10_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q14664 ENTREZGENE
  Q8N175 ENTREZGENE
UniProt Secondary Q14664 UniProtKB/Swiss-Prot
  Q8N175 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-14 KRT10  keratin 10  KRT10  keratin 10, type I  Symbol and/or name change 5135510 APPROVED
2015-01-27 KRT10  keratin 10, type I  KRT10  keratin 10  Symbol and/or name change 5135510 APPROVED