KRT1 (keratin 1) - Rat Genome Database

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Gene: KRT1 (keratin 1) Homo sapiens
Analyze
Symbol: KRT1
Name: keratin 1
RGD ID: 1346930
HGNC Page HGNC:6412
Description: Enables carbohydrate binding activity and protein heterodimerization activity. A structural constituent of skin epidermis. Involved in complement activation, lectin pathway and protein heterotetramerization. Located in cornified envelope; cytoplasm; and keratin filament. Implicated in epidermolytic hyperkeratosis; epidermolytic hyperkeratosis 1; keratosis palmoplantaris striata 3; and nonepidermolytic palmoplantar keratoderma.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 67 kDa cytokeratin; AEI2; CK-1; CK1; cytokeratin 1; cytokeratin-1; EHK; EHK1; epidermolytic hyperkeratosis 1; EPPK; hair alpha protein; K1; keratin 1, type II; keratin, type II cytoskeletal 1; KRT1A; NEPPK; type-II keratin Kb1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381252,674,736 - 52,680,407 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1252,674,736 - 52,680,407 (-)EnsemblGRCh38hg38GRCh38
GRCh371253,068,520 - 53,074,191 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361251,354,787 - 51,360,458 (-)NCBINCBI36Build 36hg18NCBI36
Build 341251,354,718 - 51,360,446NCBI
Celera1252,714,762 - 52,720,433 (-)NCBICelera
Cytogenetic Map12q13.13NCBI
HuRef1250,112,373 - 50,118,022 (-)NCBIHuRef
CHM1_11253,035,321 - 53,040,992 (-)NCBICHM1_1
T2T-CHM13v2.01252,639,281 - 52,644,932 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (EXP)
(5Z,8Z,11Z,13E)-15-HETE  (ISO)
1,2-dimethylhydrazine  (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)
5-fluorouracil  (ISO)
6-propyl-2-thiouracil  (ISO)
9-cis-retinoic acid  (EXP)
acetic acid  (ISO)
all-trans-4-oxoretinoic acid  (EXP)
all-trans-retinoic acid  (EXP,ISO)
antimonite  (EXP)
antirheumatic drug  (EXP)
arsane  (EXP,ISO)
arsenic atom  (EXP,ISO)
arsenite(3-)  (EXP)
avobenzone  (EXP)
barium sulfate  (ISO)
benzo[a]pyrene  (EXP,ISO)
beta-damascenone  (ISO)
beta-naphthoflavone  (EXP)
bis(2-chloroethyl) sulfide  (EXP,ISO)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP)
bromochloroacetic acid  (ISO)
cadmium atom  (EXP)
caffeine  (EXP)
calcium atom  (EXP,ISO)
calcium(0)  (EXP,ISO)
calycosin  (EXP)
CGP 52608  (EXP)
cobalt atom  (EXP)
cobalt dichloride  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
cortisol  (EXP)
Cuprizon  (ISO)
cyclosporin A  (EXP)
DAPT  (EXP)
diethylstilbestrol  (ISO)
dipotassium bis[mu-tartrato(4-)]diantimonate(2-) trihydrate  (EXP)
disulfiram  (EXP)
doxorubicin  (EXP)
enzyme inhibitor  (EXP)
folic acid  (ISO)
fulvestrant  (EXP)
isotretinoin  (EXP)
ivermectin  (EXP)
lead(0)  (EXP)
masoprocol  (ISO)
mercury atom  (EXP)
mercury(0)  (EXP)
mono(2-ethylhexyl) phthalate  (ISO)
morin  (ISO)
morphine  (ISO)
N-nitrosomorpholine  (ISO)
nickel atom  (EXP)
ozone  (EXP)
paracetamol  (EXP)
phenyl isocyanate  (EXP)
potassium dichromate  (EXP,ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
quercetin  (EXP,ISO)
SB 203580  (EXP)
SB 431542  (EXP,ISO)
silicon dioxide  (EXP)
sodium arsenate  (EXP)
sodium arsenite  (EXP,ISO)
sodium dodecyl sulfate  (EXP)
stattic  (EXP)
T-2 toxin  (ISO)
tamoxifen  (ISO)
titanium dioxide  (EXP)
troglitazone  (EXP)
Tungsten carbide  (EXP)
tyrphostin AG 1478  (EXP)
urethane  (EXP)
zinc atom  (EXP,ISO)
zinc(0)  (EXP,ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal blistering of the skin  (IAGP)
Abnormal fingernail morphology  (IAGP)
Abnormal hair morphology  (IAGP)
Abnormal umbilicus morphology  (IAGP)
Abnormality of the nail  (IAGP)
Abnormality of the skin  (IAGP)
Amniotic constriction ring  (IAGP)
Atopic dermatitis  (IAGP)
Autoamputation of digits  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bleeding with minor or no trauma  (IAGP)
Camptodactyly  (IAGP)
Childhood onset  (IAGP)
Clubbing  (IAGP)
Concave nail  (IAGP)
Congenital bullous ichthyosiform erythroderma  (IAGP)
Congenital onset  (IAGP)
Conjunctival hamartoma  (IAGP)
Curly hair  (IAGP)
Cutaneous photosensitivity  (IAGP)
Decreased movement range in interphalangeal joints  (IAGP)
Diffuse palmoplantar hyperkeratosis  (IAGP)
Dry skin  (IAGP)
Epidermal acanthosis  (IAGP)
Epidermal hyperkeratosis  (IAGP)
Erythema  (IAGP)
Erythroderma  (IAGP)
Flexion contracture  (IAGP)
Fragile skin  (IAGP)
Hypergranulosis  (IAGP)
Hyperhidrosis  (IAGP)
Hyperkeratosis  (IAGP)
Hyperkeratotic papule  (IAGP)
Ichthyosis  (IAGP)
Impaired tactile sensation  (IAGP)
Impaired temperature sensation  (IAGP)
Interphalangeal joint contracture of finger  (IAGP)
Knuckle pad  (IAGP)
Localized epidermolytic hyperkeratosis  (IAGP)
Nail dystrophy  (IAGP)
Nonepidermolytic palmoplantar hyperkeratosis  (IAGP)
Onychomycosis  (IAGP)
Orthokeratosis  (IAGP)
Palmar hyperkeratosis  (IAGP)
Palmoplantar blistering  (IAGP)
Palmoplantar hyperkeratosis  (IAGP)
Palmoplantar keratoderma  (IAGP)
Palmoplantar scaling skin  (IAGP)
Poor appetite  (IAGP)
Prostate cancer  (IAGP)
Recurrent skin infections  (IAGP)
Scaling skin  (IAGP)
Skin erosion  (IAGP)
Skin ulcer  (IAGP)
Tendon thickening  (IAGP)
Thickened Achilles tendon  (IAGP)
Weight loss  (IAGP)
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. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
6. Evidence for novel functions of the keratin tail emerging from a mutation causing ichthyosis hystrix. Sprecher E, etal., J Invest Dermatol. 2001 Apr;116(4):511-9.
Additional References at PubMed
PMID:1281859   PMID:1284546   PMID:1380725   PMID:1381288   PMID:1602151   PMID:2450142   PMID:2461420   PMID:2470667   PMID:2580302   PMID:2581964   PMID:7507151   PMID:7507152  
PMID:7512983   PMID:7528239   PMID:7536183   PMID:7543090   PMID:7687781   PMID:8780679   PMID:8999895   PMID:9261168   PMID:9520414   PMID:9856846   PMID:10053007   PMID:10066772  
PMID:10232403   PMID:10597140   PMID:10688370   PMID:10844506   PMID:10903910   PMID:10942575   PMID:11204562   PMID:11286630   PMID:11290596   PMID:11487543   PMID:11531804   PMID:11549596  
PMID:11591653   PMID:11841545   PMID:11897493   PMID:11982762   PMID:12064938   PMID:12406346   PMID:12406348   PMID:12477932   PMID:12603866   PMID:12648226   PMID:12665801   PMID:14499622  
PMID:15174051   PMID:15324660   PMID:15489334   PMID:15797458   PMID:16212417   PMID:16344560   PMID:16361731   PMID:16417221   PMID:16565220   PMID:16789827   PMID:16831889   PMID:16923132  
PMID:16944923   PMID:17361108   PMID:17361185   PMID:17373842   PMID:17668073   PMID:18637039   PMID:18795921   PMID:19199708   PMID:19380743   PMID:19470048   PMID:19494018   PMID:19515043  
PMID:19738201   PMID:19946888   PMID:20500210   PMID:21081503   PMID:21145461   PMID:21151833   PMID:21271994   PMID:21565611   PMID:21630459   PMID:21800051   PMID:21873635   PMID:21907836  
PMID:21912905   PMID:22250628   PMID:22348822   PMID:22516433   PMID:22623428   PMID:22664934   PMID:22834809   PMID:22939629   PMID:23084401   PMID:23132931   PMID:23182068   PMID:23376485  
PMID:23398456   PMID:23533145   PMID:23576398   PMID:23580065   PMID:23623204   PMID:23658023   PMID:23686814   PMID:23707440   PMID:23798571   PMID:24457600   PMID:24639526   PMID:24940650  
PMID:25050384   PMID:25073515   PMID:25324306   PMID:25429721   PMID:25605727   PMID:25774499   PMID:25808222   PMID:25904304   PMID:25910212   PMID:25925205   PMID:26181054   PMID:26343611  
PMID:26344197   PMID:26460568   PMID:26506232   PMID:26546435   PMID:26581228   PMID:26725010   PMID:27025967   PMID:27421141   PMID:27425868   PMID:27507811   PMID:27545878   PMID:27591049  
PMID:27595935   PMID:27609421   PMID:27639257   PMID:27722766   PMID:28065597   PMID:28111259   PMID:28192407   PMID:28443643   PMID:28515276   PMID:28977666   PMID:29028840   PMID:29507755  
PMID:29514862   PMID:29563501   PMID:29734875   PMID:29777862   PMID:29795372   PMID:29845934   PMID:29859926   PMID:30021014   PMID:30209976   PMID:30288772   PMID:30463901   PMID:30472188  
PMID:30619335   PMID:30631154   PMID:30719818   PMID:30737378   PMID:30833792   PMID:31036554   PMID:31067553   PMID:31180492   PMID:31253590   PMID:31267705   PMID:31324722   PMID:31527668  
PMID:31796584   PMID:31862882   PMID:32041737   PMID:32179842   PMID:32296183   PMID:32322062   PMID:32529326   PMID:32552912   PMID:32666929   PMID:32698014   PMID:32788342   PMID:32807901  
PMID:32853985   PMID:32994395   PMID:33005030   PMID:33022573   PMID:33029523   PMID:33194618   PMID:33644029   PMID:33762435   PMID:33871364   PMID:33961781   PMID:34026424   PMID:34052271  
PMID:34079125   PMID:34199056   PMID:34299191   PMID:34445801   PMID:34461324   PMID:34562265   PMID:34638806   PMID:34650049   PMID:34709727   PMID:34729304   PMID:34890750   PMID:35013218  
PMID:35173535   PMID:35256949   PMID:35446349   PMID:35474131   PMID:35490383   PMID:35562734   PMID:35563538   PMID:35623459   PMID:35676659   PMID:35831895   PMID:35844135   PMID:35864588  
PMID:35944360   PMID:35964051   PMID:35973989   PMID:36055981   PMID:36057605   PMID:36147463   PMID:36168627   PMID:36180891   PMID:36215168   PMID:36231117   PMID:36244648   PMID:36470425  
PMID:36517590   PMID:36526897   PMID:36574265   PMID:36762613   PMID:36896912   PMID:36949045   PMID:37120454   PMID:37170713   PMID:37616343   PMID:38019813   PMID:38113892   PMID:38172120  
PMID:38380604  


Genomics

Comparative Map Data
KRT1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381252,674,736 - 52,680,407 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1252,674,736 - 52,680,407 (-)EnsemblGRCh38hg38GRCh38
GRCh371253,068,520 - 53,074,191 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361251,354,787 - 51,360,458 (-)NCBINCBI36Build 36hg18NCBI36
Build 341251,354,718 - 51,360,446NCBI
Celera1252,714,762 - 52,720,433 (-)NCBICelera
Cytogenetic Map12q13.13NCBI
HuRef1250,112,373 - 50,118,022 (-)NCBIHuRef
CHM1_11253,035,321 - 53,040,992 (-)NCBICHM1_1
T2T-CHM13v2.01252,639,281 - 52,644,932 (-)NCBIT2T-CHM13v2.0
Krt1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3915101,753,861 - 101,759,221 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl15101,753,861 - 101,759,229 (-)EnsemblGRCm39 Ensembl
GRCm3815101,845,426 - 101,850,786 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl15101,845,426 - 101,850,794 (-)EnsemblGRCm38mm10GRCm38
MGSCv3715101,675,857 - 101,681,217 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3615101,673,548 - 101,678,828 (-)NCBIMGSCv36mm8
Celera15103,996,811 - 104,002,171 (-)NCBICelera
Cytogenetic Map15F2NCBI
cM Map1557.06NCBI
Krt1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr87134,855,311 - 134,860,537 (-)NCBIGRCr8
mRatBN7.27132,976,618 - 132,981,844 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl7132,976,620 - 132,981,844 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx7134,737,926 - 134,743,154 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.07136,967,444 - 136,972,672 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.07136,946,099 - 136,951,327 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.07143,448,318 - 143,453,544 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7143,448,318 - 143,453,544 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.07141,245,846 - 141,251,072 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47140,540,960 - 140,546,186 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.17140,617,874 - 140,622,575 (-)NCBI
Celera7129,414,872 - 129,420,098 (-)NCBICelera
Cytogenetic Map7q36NCBI
Krt1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545825,187 - 29,208 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495545825,193 - 29,282 (-)NCBIChiLan1.0ChiLan1.0
LOC100970659
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21041,516,329 - 41,521,992 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11241,513,092 - 41,518,755 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01236,083,858 - 36,089,521 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11236,861,585 - 36,867,167 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1236,861,585 - 36,866,725 (+)Ensemblpanpan1.1panPan2
KRT1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1272,422,150 - 2,427,160 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2743,826,847 - 43,831,858 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0272,422,007 - 2,427,021 (+)NCBIROS_Cfam_1.0
UMICH_Zoey_3.1272,438,328 - 2,443,333 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0272,423,403 - 2,428,399 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02744,225,282 - 44,230,293 (-)NCBIUU_Cfam_GSD_1.0
Krt1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494563,074,440 - 63,080,066 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493651210,084,763 - 10,090,414 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493651210,084,764 - 10,090,312 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
KRT1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl518,012,925 - 18,018,582 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1518,012,922 - 18,018,582 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2518,506,173 - 18,511,790 (-)NCBISscrofa10.2Sscrofa10.2susScr3
KRT1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11148,810,671 - 48,817,436 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1148,810,677 - 48,816,363 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666037197,255,673 - 197,261,492 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Krt1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624904802,460 - 807,469 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624904801,979 - 816,463 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in KRT1
180 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NG_008364.2:g.5652T>A single nucleotide variant Nonepidermolytic palmoplantar hyperkeratosis [RCV000017267] Chr12:12q13 pathogenic
KRT1, 24-BP DEL, NT1376 deletion Diffuse nonepidermolytic palmoplantar keratoderma [RCV000017268] Chr12:12q13 pathogenic
KRT1, 1-BP DEL, 1628G deletion Keratosis palmoplantaris striata 3 [RCV000017269] Chr12:12q13 pathogenic
NG_008364.2:g.8350G>A single nucleotide variant Epidermolytic palmoplantar keratoderma [RCV000017271] Chr12:12q13 pathogenic
NM_006121.4(KRT1):c.1757dup (p.Tyr587fs) duplication Bullous ichthyosiform erythroderma [RCV003227463] Chr12:52675370..52675371 [GRCh38]
Chr12:53069154..53069155 [GRCh37]
Chr12:12q13.13		 pathogenic
NM_006121.4(KRT1):c.931G>C (p.Glu311Gln) single nucleotide variant Bullous ichthyosiform erythroderma [RCV000017258] Chr12:52677682 [GRCh38]
Chr12:53071466 [GRCh37]
Chr12:12q13.13		 pathogenic
NM_006121.4(KRT1):c.482T>C (p.Leu161Pro) single nucleotide variant Bullous ichthyosiform erythroderma [RCV000017259]|not provided [RCV000057083] Chr12:52679867 [GRCh38]
Chr12:53073651 [GRCh37]
Chr12:12q13.13		 pathogenic|not provided
NM_006121.4(KRT1):c.1445A>G (p.Tyr482Cys) single nucleotide variant Bullous ichthyosiform erythroderma [RCV000017260]|not provided [RCV000057065] Chr12:52676305 [GRCh38]
Chr12:53070089 [GRCh37]
Chr12:12q13.13		 pathogenic|not provided
NM_006121.4(KRT1):c.221A>T (p.Lys74Ile) single nucleotide variant Diffuse nonepidermolytic palmoplantar keratoderma [RCV000017261]|not provided [RCV000057080] Chr12:52680128 [GRCh38]
Chr12:53073912 [GRCh37]
Chr12:12q13.13		 pathogenic|not provided
NM_006121.4(KRT1):c.1436T>C (p.Ile479Thr) single nucleotide variant Annular epidermolytic ichthyosis [RCV000017262]|Ichthyosis, annular epidermolytic, 2 [RCV002463993]|not provided [RCV000057063] Chr12:52676314 [GRCh38]
Chr12:53070098 [GRCh37]
Chr12:12q13.13		 pathogenic|likely pathogenic|not provided
NM_006121.4(KRT1):c.1435A>T (p.Ile479Phe) single nucleotide variant Ichthyosis, annular epidermolytic, 2 [RCV002463994]|not provided [RCV000057062] Chr12:52676315 [GRCh38]
Chr12:53070099 [GRCh37]
Chr12:12q13.13		 pathogenic|not provided
NM_006121.4(KRT1):c.464T>A (p.Val155Asp) single nucleotide variant Bullous ichthyosiform erythroderma [RCV000017264]|not provided [RCV000057081] Chr12:52679885 [GRCh38]
Chr12:53073669 [GRCh37]
Chr12:12q13.13		 pathogenic|not provided
NM_006121.4(KRT1):c.564C>A (p.Asn188Lys) single nucleotide variant Bullous ichthyosiform erythroderma [RCV000017265]|KRT1-related condition [RCV003390687]|not provided [RCV000057092] Chr12:52679785 [GRCh38]
Chr12:53073569 [GRCh37]
Chr12:12q13.13		 pathogenic|not provided
NM_006121.4(KRT1):c.1424T>C (p.Leu475Pro) single nucleotide variant Bullous ichthyosiform erythroderma [RCV000017266]|KRT1-related condition [RCV003398527] Chr12:52676326 [GRCh38]
Chr12:53070110 [GRCh37]
Chr12:12q13.13		 pathogenic|uncertain significance
NM_006121.4(KRT1):c.1609_1610delinsA (p.Gly537fs) indel Ichthyosis hystrix of Curth-Macklin [RCV002051632]|not provided [RCV000057075] Chr12:52675518..52675519 [GRCh38]
Chr12:53069302..53069303 [GRCh37]
Chr12:12q13.13		 pathogenic|not provided
NM_006121.3(KRT1):c.1863G>A (p.Gly621=) single nucleotide variant Malignant melanoma [RCV000070048] Chr12:52675265 [GRCh38]
Chr12:53069049 [GRCh37]
Chr12:51355316 [NCBI36]
Chr12:12q13.13		 not provided
NM_006121.3(KRT1):c.1153G>A (p.Gly385Ser) single nucleotide variant Malignant melanoma [RCV000070049] Chr12:52677160 [GRCh38]
Chr12:53070944 [GRCh37]
Chr12:51357211 [NCBI36]
Chr12:12q13.13		 not provided
NM_006121.3(KRT1):c.1078G>A (p.Asp360Asn) single nucleotide variant Malignant melanoma [RCV000070050] Chr12:52677366 [GRCh38]
Chr12:53071150 [GRCh37]
Chr12:51357417 [NCBI36]
Chr12:12q13.13		 not provided
NM_006121.4(KRT1):c.1019A>G (p.Asp340Gly) single nucleotide variant not provided [RCV000057050] Chr12:52677425 [GRCh38]
Chr12:53071209 [GRCh37]
Chr12:12q13.13		 not provided
NM_006121.4(KRT1):c.1019A>T (p.Asp340Val) single nucleotide variant not provided [RCV000057051] Chr12:52677425 [GRCh38]
Chr12:53071209 [GRCh37]
Chr12:12q13.13		 not provided
NM_006121.4(KRT1):c.1072T>A (p.Tyr358Asn) single nucleotide variant not provided [RCV000057052] Chr12:52677372 [GRCh38]
Chr12:53071156 [GRCh37]
Chr12:12q13.13		 not provided
NM_006121.4(KRT1):c.1254+1G>A single nucleotide variant Palmoplantar keratoderma, epidermolytic, 2 [RCV003232986]|not provided [RCV000057053] Chr12:52677058 [GRCh38]
Chr12:53070842 [GRCh37]
Chr12:12q13.13		 pathogenic|not provided
NM_006121.4(KRT1):c.1310T>C (p.Leu437Pro) single nucleotide variant not provided [RCV000057054] Chr12:52676440 [GRCh38]
Chr12:53070224 [GRCh37]
Chr12:12q13.13		 likely pathogenic|not provided
NM_006121.4(KRT1):c.1360G>T (p.Ala454Ser) single nucleotide variant Bullous ichthyosiform erythroderma [RCV000321881]|Diffuse nonepidermolytic palmoplantar keratoderma [RCV000266755]|not provided [RCV000057055] Chr12:52676390 [GRCh38]
Chr12:53070174 [GRCh37]
Chr12:12q13.13		 benign|likely benign|not provided
NM_006121.4(KRT1):c.1376_1399del (p.Ala459_Gln466del) deletion Diffuse nonepidermolytic palmoplantar keratoderma [RCV002284186]|not provided [RCV000057056] Chr12:52676351..52676374 [GRCh38]
Chr12:53070135..53070158 [GRCh37]
Chr12:12q13.13		 pathogenic|not provided
NM_006121.4(KRT1):c.1389C>T (p.Arg463=) single nucleotide variant Bullous ichthyosiform erythroderma [RCV000297416]|Diffuse nonepidermolytic palmoplantar keratoderma [RCV000361470]|not provided [RCV000057057] Chr12:52676361 [GRCh38]
Chr12:53070145 [GRCh37]
Chr12:12q13.13		 benign|not provided
NM_006121.4(KRT1):c.1413= (p.Thr471=) single nucleotide variant not provided [RCV000057058] Chr12:52676337 [GRCh38]
Chr12:53070121 [GRCh37]
Chr12:12q13.13		 benign|not provided
NM_006121.4(KRT1):c.1432G>A (p.Glu478Lys) single nucleotide variant not provided [RCV000057059] Chr12:52676318 [GRCh38]
Chr12:53070102 [GRCh37]
Chr12:12q13.13		 not provided
NM_006121.4(KRT1):c.1432G>C (p.Glu478Gln) single nucleotide variant not provided [RCV000057060] Chr12:52676318 [GRCh38]
Chr12:53070102 [GRCh37]
Chr12:12q13.13		 not provided
NM_006121.4(KRT1):c.1434G>T (p.Glu478Asp) single nucleotide variant not provided [RCV000057061] Chr12:52676316 [GRCh38]
Chr12:53070100 [GRCh37]
Chr12:12q13.13		 not provided
NM_006121.4(KRT1):c.1441A>C (p.Thr481Pro) single nucleotide variant not provided [RCV000057064] Chr12:52676309 [GRCh38]
Chr12:53070093 [GRCh37]
Chr12:12q13.13		 not provided
NM_006121.4(KRT1):c.1454T>C (p.Leu485Pro) single nucleotide variant not provided [RCV000057066] Chr12:52676296 [GRCh38]
Chr12:53070080 [GRCh37]
Chr12:12q13.13		 likely pathogenic|not provided
NM_006121.4(KRT1):c.1457T>C (p.Leu486Pro) single nucleotide variant not provided [RCV000057067] Chr12:52676293 [GRCh38]
Chr12:53070077 [GRCh37]
Chr12:12q13.13		 not provided
NM_006121.4(KRT1):c.1457T>G (p.Leu486Arg) single nucleotide variant not provided [RCV000057068] Chr12:52676293 [GRCh38]
Chr12:53070077 [GRCh37]
Chr12:12q13.13		 not provided
NM_006121.4(KRT1):c.1465G>A (p.Glu489Lys) single nucleotide variant not provided [RCV000057069] Chr12:52676285 [GRCh38]
Chr12:53070069 [GRCh37]
Chr12:12q13.13		 not provided
NM_006121.4(KRT1):c.1468G>A (p.Glu490Lys) single nucleotide variant not provided [RCV000057070] Chr12:52676282 [GRCh38]
Chr12:53070066 [GRCh37]
Chr12:12q13.13		 not provided
NM_006121.4(KRT1):c.1468G>C (p.Glu490Gln) single nucleotide variant not provided [RCV000057071] Chr12:52676282 [GRCh38]
Chr12:53070066 [GRCh37]
Chr12:12q13.13		 not provided
NM_006121.4(KRT1):c.1469A>G (p.Glu490Gly) single nucleotide variant not provided [RCV000057072] Chr12:52676281 [GRCh38]
Chr12:53070065 [GRCh37]
Chr12:12q13.13		 not provided
NM_006121.4(KRT1):c.1556del (p.Gly519fs) deletion Ichthyosis hystrix of Curth-Macklin [RCV002463435]|not provided [RCV000057073] Chr12:52675572 [GRCh38]
Chr12:53069356 [GRCh37]
Chr12:12q13.13		 pathogenic|not provided
NM_006121.4(KRT1):c.1574_1600del (p.Tyr525_Gly533del) deletion not provided [RCV000057074] Chr12:52675528..52675554 [GRCh38]
Chr12:53069312..53069338 [GRCh37]
Chr12:12q13.13		 benign|not provided
NM_006121.4(KRT1):c.1628del (p.Gly543fs) deletion Keratosis palmoplantaris striata 3 [RCV002284187]|not provided [RCV000057076] Chr12:52675500 [GRCh38]
Chr12:53069284 [GRCh37]
Chr12:12q13.13		 pathogenic|not provided
NM_006121.4(KRT1):c.1669_1689del (p.Ser557_Gly563del) deletion not provided [RCV000057077] Chr12:52675439..52675459 [GRCh38]
Chr12:53069223..53069243 [GRCh37]
Chr12:12q13.13		 benign|not provided
NM_006121.4(KRT1):c.1762A>G (p.Arg588Gly) single nucleotide variant not provided [RCV000057079] Chr12:52675366 [GRCh38]
Chr12:53069150 [GRCh37]
Chr12:12q13.13		 not provided
NM_006121.4(KRT1):c.464T>G (p.Val155Gly) single nucleotide variant not provided [RCV000057082] Chr12:52679885 [GRCh38]
Chr12:53073669 [GRCh37]
Chr12:12q13.13		 not provided
NM_006121.4(KRT1):c.507_518del (p.Asp170_Ile173del) deletion not provided [RCV000057084] Chr12:52679831..52679842 [GRCh38]
Chr12:53073615..53073626 [GRCh37]
Chr12:12q13.13		 not provided
NM_006121.4(KRT1):c.508_519del (p.Asp170_Ile173del) deletion not provided [RCV000057085] Chr12:52679830..52679841 [GRCh38]
Chr12:53073614..53073625 [GRCh37]
Chr12:12q13.13		 not provided
NM_006121.4(KRT1):c.531G>T (p.Lys177Asn) single nucleotide variant not provided [RCV000057086] Chr12:52679818 [GRCh38]
Chr12:53073602 [GRCh37]
Chr12:12q13.13		 not provided
NM_006121.4(KRT1):c.536G>C (p.Arg179Pro) single nucleotide variant not provided [RCV000057087] Chr12:52679813 [GRCh38]
Chr12:53073597 [GRCh37]
Chr12:12q13.13		 not provided
NM_006121.4(KRT1):c.556T>C (p.Ser186Pro) single nucleotide variant not provided [RCV000057088] Chr12:52679793 [GRCh38]
Chr12:53073577 [GRCh37]
Chr12:12q13.13		 not provided
NM_006121.4(KRT1):c.559C>T (p.Leu187Phe) single nucleotide variant not provided [RCV000057089] Chr12:52679790 [GRCh38]
Chr12:53073574 [GRCh37]
Chr12:12q13.13		 pathogenic|not provided
NM_006121.4(KRT1):c.563A>C (p.Asn188Thr) single nucleotide variant not provided [RCV000057090] Chr12:52679786 [GRCh38]
Chr12:53073570 [GRCh37]
Chr12:12q13.13		 not provided
NM_006121.4(KRT1):c.563A>G (p.Asn188Ser) single nucleotide variant Ichthyosis, annular epidermolytic, 2 [RCV003448255]|Palmoplantar keratoderma, epidermolytic, 2 [RCV003761741]|not provided [RCV000057091] Chr12:52679786 [GRCh38]
Chr12:53073570 [GRCh37]
Chr12:12q13.13		 pathogenic|likely pathogenic|not provided
NM_006121.4(KRT1):c.571T>A (p.Phe191Ile) single nucleotide variant not provided [RCV000057093] Chr12:52679778 [GRCh38]
Chr12:53073562 [GRCh37]
Chr12:12q13.13		 pathogenic|not provided
NM_006121.4(KRT1):c.572T>G (p.Phe191Cys) single nucleotide variant not provided [RCV000057094] Chr12:52679777 [GRCh38]
Chr12:53073561 [GRCh37]
Chr12:12q13.13		 not provided
NM_006121.4(KRT1):c.573T>G (p.Phe191Leu) single nucleotide variant not provided [RCV000057095] Chr12:52679776 [GRCh38]
Chr12:53073560 [GRCh37]
Chr12:12q13.13		 not provided
NM_006121.4(KRT1):c.577T>C (p.Ser193Pro) single nucleotide variant not provided [RCV000057096] Chr12:52679772 [GRCh38]
Chr12:53073556 [GRCh37]
Chr12:12q13.13		 not provided
NM_006121.4(KRT1):c.591+1G>A single nucleotide variant not provided [RCV000057097] Chr12:52679757 [GRCh38]
Chr12:53073541 [GRCh37]
Chr12:12q13.13		 not provided
NM_006121.4(KRT1):c.591+1G>C single nucleotide variant Epidermolytic hyperkeratosis 1 [RCV003389393]|not provided [RCV000057098] Chr12:52679757 [GRCh38]
Chr12:53073541 [GRCh37]
Chr12:12q13.13		 pathogenic|not provided
NM_006121.4(KRT1):c.591+2T>A single nucleotide variant Diffuse nonepidermolytic palmoplantar keratoderma [RCV001804161]|not provided [RCV000057099] Chr12:52679756 [GRCh38]
Chr12:53073540 [GRCh37]
Chr12:12q13.13		 pathogenic|not provided
NM_006121.4(KRT1):c.591+3_591+6del deletion not provided [RCV000057100] Chr12:52679752..52679755 [GRCh38]
Chr12:53073536..53073539 [GRCh37]
Chr12:12q13.13		 not provided
NM_006121.4(KRT1):c.623T>C (p.Leu208Pro) single nucleotide variant Bullous ichthyosiform erythroderma [RCV000505690]|not provided [RCV000057101] Chr12:52678725 [GRCh38]
Chr12:53072509 [GRCh37]
Chr12:12q13.13		 pathogenic|not provided
NM_006121.4(KRT1):c.641T>C (p.Leu214Pro) single nucleotide variant not provided [RCV000057102] Chr12:52678707 [GRCh38]
Chr12:53072491 [GRCh37]
Chr12:12q13.13		 not provided
NM_006121.4(KRT1):c.693T>G (p.Phe231Leu) single nucleotide variant not provided [RCV000057103] Chr12:52678655 [GRCh38]
Chr12:53072439 [GRCh37]
Chr12:12q13.13		 not provided
NM_006121.4(KRT1):c.698C>T (p.Ser233Leu) single nucleotide variant not provided [RCV000057104] Chr12:52678650 [GRCh38]
Chr12:53072434 [GRCh37]
Chr12:12q13.13		 pathogenic|likely pathogenic|not provided
NM_006121.4(KRT1):c.720G>A (p.Arg240=) single nucleotide variant not provided [RCV000057105] Chr12:52678628 [GRCh38]
Chr12:53072412 [GRCh37]
Chr12:12q13.13		 not provided
NM_006121.4(KRT1):c.75C>T (p.Ile25=) single nucleotide variant Bullous ichthyosiform erythroderma [RCV000279028]|Diffuse nonepidermolytic palmoplantar keratoderma [RCV000373559]|not provided [RCV000057106] Chr12:52680274 [GRCh38]
Chr12:53074058 [GRCh37]
Chr12:12q13.13		 benign|likely benign|not provided
NM_006121.4(KRT1):c.800G>A (p.Arg267Gln) single nucleotide variant not provided [RCV000057107] Chr12:52678548 [GRCh38]
Chr12:53072332 [GRCh37]
Chr12:12q13.13		 not provided
NM_006121.4(KRT1):c.868-31T>C single nucleotide variant not provided [RCV000057108] Chr12:52677776 [GRCh38]
Chr12:53071560 [GRCh37]
Chr12:12q13.13		 benign|not provided
NM_006121.4(KRT1):c.963+52T>G single nucleotide variant not provided [RCV000057109] Chr12:52677598 [GRCh38]
Chr12:53071382 [GRCh37]
Chr12:12q13.13		 benign|not provided
NM_006121.3(KRT1):c.897G>A (p.Val299=) single nucleotide variant Malignant melanoma [RCV000062532] Chr12:52677716 [GRCh38]
Chr12:53071500 [GRCh37]
Chr12:51357767 [NCBI36]
Chr12:12q13.13		 not provided
NM_006121.4(KRT1):c.1865dup (p.Val623fs) duplication Congenital reticular ichthyosiform erythroderma [RCV000662282] Chr12:52675262..52675263 [GRCh38]
Chr12:53069046..53069047 [GRCh37]
Chr12:12q13.13		 pathogenic
NM_006121.4(KRT1):c.1751dup (p.Ser584fs) duplication not provided [RCV000057078] Chr12:52675376..52675377 [GRCh38]
Chr12:53069160..53069161 [GRCh37]
Chr12:12q13.13		 not provided
NM_006121.4(KRT1):c.757G>T (p.Asp253Tyr) single nucleotide variant Malignant tumor of prostate [RCV000149180] Chr12:52678591 [GRCh38]
Chr12:53072375 [GRCh37]
Chr12:12q13.13		 uncertain significance
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33		 pathogenic
GRCh38/hg38 12q13.12-13.13(chr12:50633888-52851909)x1 copy number loss See cases [RCV000140716] Chr12:50633888..52851909 [GRCh38]
Chr12:51027671..53245693 [GRCh37]
Chr12:49313938..51531960 [NCBI36]
Chr12:12q13.12-13.13		 pathogenic
GRCh38/hg38 12q13.12-13.13(chr12:50122359-53248460)x1 copy number loss See cases [RCV000142033] Chr12:50122359..53248460 [GRCh38]
Chr12:50516142..53642244 [GRCh37]
Chr12:48802409..51928511 [NCBI36]
Chr12:12q13.12-13.13		 pathogenic
NM_006121.4(KRT1):c.1666G>C (p.Gly556Arg) single nucleotide variant not provided [RCV000190291] Chr12:52675462 [GRCh38]
Chr12:53069246 [GRCh37]
Chr12:12q13.13		 not provided
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic|likely pathogenic
NM_006121.4(KRT1):c.1677C>T (p.Tyr559=) single nucleotide variant Bullous ichthyosiform erythroderma [RCV000348462]|Diffuse nonepidermolytic palmoplantar keratoderma [RCV000281821] Chr12:52675451 [GRCh38]
Chr12:53069235 [GRCh37]
Chr12:12q13.13		 benign
NM_006121.4(KRT1):c.113G>A (p.Arg38His) single nucleotide variant Bullous ichthyosiform erythroderma [RCV000282510]|Diffuse nonepidermolytic palmoplantar keratoderma [RCV000318815]|KRT1-related condition [RCV003957605]|not provided [RCV000891092]|not specified [RCV000614883] Chr12:52680236 [GRCh38]
Chr12:53074020 [GRCh37]
Chr12:12q13.13		 benign|likely benign
NM_006121.4(KRT1):c.1482T>C (p.Ser494=) single nucleotide variant Bullous ichthyosiform erythroderma [RCV000302019]|Diffuse nonepidermolytic palmoplantar keratoderma [RCV000406124]|not provided [RCV003727658] Chr12:52675738 [GRCh38]
Chr12:53069522 [GRCh37]
Chr12:12q13.13		 benign|likely benign
NM_006121.4(KRT1):c.741T>C (p.Ser247=) single nucleotide variant Bullous ichthyosiform erythroderma [RCV000304794]|Diffuse nonepidermolytic palmoplantar keratoderma [RCV000405502]|not provided [RCV000879823] Chr12:52678607 [GRCh38]
Chr12:53072391 [GRCh37]
Chr12:12q13.13		 benign|likely benign
NM_006121.4(KRT1):c.1035C>T (p.Leu345=) single nucleotide variant Bullous ichthyosiform erythroderma [RCV000287608]|Diffuse nonepidermolytic palmoplantar keratoderma [RCV000333303]|not provided [RCV002056316] Chr12:52677409 [GRCh38]
Chr12:53071193 [GRCh37]
Chr12:12q13.13		 benign|likely benign
NM_006121.4(KRT1):c.1074C>T (p.Tyr358=) single nucleotide variant Bullous ichthyosiform erythroderma [RCV000382210]|Diffuse nonepidermolytic palmoplantar keratoderma [RCV000327656]|not provided [RCV000892160]|not specified [RCV000614502] Chr12:52677370 [GRCh38]
Chr12:53071154 [GRCh37]
Chr12:12q13.13		 benign|likely benign
NM_006121.4(KRT1):c.1107C>T (p.Ala369=) single nucleotide variant Bullous ichthyosiform erythroderma [RCV000357895]|Diffuse nonepidermolytic palmoplantar keratoderma [RCV000272490]|not provided [RCV002056315] Chr12:52677337 [GRCh38]
Chr12:53071121 [GRCh37]
Chr12:12q13.13		 benign|likely benign
NM_006121.4(KRT1):c.1912A>G (p.Thr638Ala) single nucleotide variant Bullous ichthyosiform erythroderma [RCV000259398]|Diffuse nonepidermolytic palmoplantar keratoderma [RCV000379712] Chr12:52675216 [GRCh38]
Chr12:53069000 [GRCh37]
Chr12:12q13.13		 benign|likely benign
NM_006121.4(KRT1):c.1475+14G>A single nucleotide variant Bullous ichthyosiform erythroderma [RCV000359196]|Diffuse nonepidermolytic palmoplantar keratoderma [RCV000260988] Chr12:52676261 [GRCh38]
Chr12:53070045 [GRCh37]
Chr12:12q13.13		 likely benign|uncertain significance
NM_006121.4(KRT1):c.302G>T (p.Gly101Val) single nucleotide variant Bullous ichthyosiform erythroderma [RCV000371370]|Diffuse nonepidermolytic palmoplantar keratoderma [RCV000276820] Chr12:52680047 [GRCh38]
Chr12:53073831 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_006121.4(KRT1):c.1031G>A (p.Ser344Asn) single nucleotide variant Bullous ichthyosiform erythroderma [RCV000387838]|Diffuse nonepidermolytic palmoplantar keratoderma [RCV000293335]|KRT1-related condition [RCV003940181]|not provided [RCV000948893] Chr12:52677413 [GRCh38]
Chr12:53071197 [GRCh37]
Chr12:12q13.13		 benign|likely benign
NM_006121.4(KRT1):c.1669A>G (p.Ser557Gly) single nucleotide variant Bullous ichthyosiform erythroderma [RCV000294675]|Diffuse nonepidermolytic palmoplantar keratoderma [RCV000386629]|not provided [RCV002056314] Chr12:52675459 [GRCh38]
Chr12:53069243 [GRCh37]
Chr12:12q13.13		 benign|likely benign
NM_006121.4(KRT1):c.*91T>C single nucleotide variant Bullous ichthyosiform erythroderma [RCV000322368]|Diffuse nonepidermolytic palmoplantar keratoderma [RCV000264950] Chr12:52675102 [GRCh38]
Chr12:53068886 [GRCh37]
Chr12:12q13.13		 benign|likely benign
NM_006121.4(KRT1):c.762G>A (p.Ser254=) single nucleotide variant Bullous ichthyosiform erythroderma [RCV000335608]|Diffuse nonepidermolytic palmoplantar keratoderma [RCV000280537]|not provided [RCV000954868] Chr12:52678586 [GRCh38]
Chr12:53072370 [GRCh37]
Chr12:12q13.13		 benign|likely benign
NM_006121.4(KRT1):c.-21C>T single nucleotide variant Bullous ichthyosiform erythroderma [RCV000342549]|Diffuse nonepidermolytic palmoplantar keratoderma [RCV000407815] Chr12:52680369 [GRCh38]
Chr12:53074153 [GRCh37]
Chr12:12q13.13		 benign|likely benign
NM_006121.4(KRT1):c.374G>A (p.Gly125Asp) single nucleotide variant Bullous ichthyosiform erythroderma [RCV000270471]|Diffuse nonepidermolytic palmoplantar keratoderma [RCV000325503] Chr12:52679975 [GRCh38]
Chr12:53073759 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_006121.4(KRT1):c.*275G>A single nucleotide variant Bullous ichthyosiform erythroderma [RCV000270911]|Diffuse nonepidermolytic palmoplantar keratoderma [RCV000363167] Chr12:52674918 [GRCh38]
Chr12:53068702 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_006121.4(KRT1):c.982A>T (p.Thr328Ser) single nucleotide variant Bullous ichthyosiform erythroderma [RCV000407441]|Diffuse nonepidermolytic palmoplantar keratoderma [RCV000348492]|KRT1-related condition [RCV003910144]|not provided [RCV000895545] Chr12:52677462 [GRCh38]
Chr12:53071246 [GRCh37]
Chr12:12q13.13		 benign|likely benign|conflicting interpretations of pathogenicity
NM_006121.4(KRT1):c.1506T>C (p.Ser502=) single nucleotide variant Bullous ichthyosiform erythroderma [RCV000307817]|Diffuse nonepidermolytic palmoplantar keratoderma [RCV000346261]|not provided [RCV000879822] Chr12:52675714 [GRCh38]
Chr12:53069498 [GRCh37]
Chr12:12q13.13		 benign|likely benign
NM_006121.4(KRT1):c.1527C>T (p.His509=) single nucleotide variant Bullous ichthyosiform erythroderma [RCV000352069]|Diffuse nonepidermolytic palmoplantar keratoderma [RCV000403116] Chr12:52675601 [GRCh38]
Chr12:53069385 [GRCh37]
Chr12:12q13.13		 benign|likely benign|uncertain significance
NM_006121.4(KRT1):c.*95G>A single nucleotide variant Bullous ichthyosiform erythroderma [RCV000309537]|Diffuse nonepidermolytic palmoplantar keratoderma [RCV000366593] Chr12:52675098 [GRCh38]
Chr12:53068882 [GRCh37]
Chr12:12q13.13		 benign|likely benign
NM_006121.4(KRT1):c.592-8G>A single nucleotide variant Bullous ichthyosiform erythroderma [RCV000359624]|Diffuse nonepidermolytic palmoplantar keratoderma [RCV000396075]|not provided [RCV000965961] Chr12:52678764 [GRCh38]
Chr12:53072548 [GRCh37]
Chr12:12q13.13		 benign|likely benign
NM_006121.4(KRT1):c.*344C>T single nucleotide variant Bullous ichthyosiform erythroderma [RCV000404540]|Diffuse nonepidermolytic palmoplantar keratoderma [RCV000315537] Chr12:52674849 [GRCh38]
Chr12:53068633 [GRCh37]
Chr12:12q13.13		 benign
NM_006121.4(KRT1):c.1898A>G (p.Lys633Arg) single nucleotide variant Bullous ichthyosiform erythroderma [RCV000317034]|Diffuse nonepidermolytic palmoplantar keratoderma [RCV000373990]|not provided [RCV001642964] Chr12:52675230 [GRCh38]
Chr12:53069014 [GRCh37]
Chr12:12q13.13		 benign
NM_006121.4(KRT1):c.257G>A (p.Arg86His) single nucleotide variant Bullous ichthyosiform erythroderma [RCV000331807]|Diffuse nonepidermolytic palmoplantar keratoderma [RCV000386357] Chr12:52680092 [GRCh38]
Chr12:53073876 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_006121.4(KRT1):c.591+1G>T single nucleotide variant not provided [RCV000520807] Chr12:52679757 [GRCh38]
Chr12:53073541 [GRCh37]
Chr12:12q13.13		 pathogenic
NM_006121.4(KRT1):c.477G>C (p.Gln159His) single nucleotide variant Bullous ichthyosiform erythroderma [RCV000365456]|Diffuse nonepidermolytic palmoplantar keratoderma [RCV000310772] Chr12:52679872 [GRCh38]
Chr12:53073656 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_006121.4(KRT1):c.*372G>A single nucleotide variant Bullous ichthyosiform erythroderma [RCV000311999]|Diffuse nonepidermolytic palmoplantar keratoderma [RCV000350571] Chr12:52674821 [GRCh38]
Chr12:53068605 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_006121.4(KRT1):c.1434G>C (p.Glu478Asp) single nucleotide variant not provided [RCV000444525] Chr12:52676316 [GRCh38]
Chr12:53070100 [GRCh37]
Chr12:12q13.13		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
NM_006121.4(KRT1):c.1349C>A (p.Ala450Asp) single nucleotide variant not provided [RCV000497739] Chr12:52676401 [GRCh38]
Chr12:53070185 [GRCh37]
Chr12:12q13.13		 likely pathogenic
NM_006121.4(KRT1):c.574G>C (p.Ala192Pro) single nucleotide variant not provided [RCV000497850] Chr12:52679775 [GRCh38]
Chr12:53073559 [GRCh37]
Chr12:12q13.13		 likely pathogenic
NM_006121.4(KRT1):c.1453C>T (p.Leu485Phe) single nucleotide variant Bullous ichthyosiform erythroderma [RCV002496908]|not provided [RCV000498290] Chr12:52676297 [GRCh38]
Chr12:53070081 [GRCh37]
Chr12:12q13.13		 pathogenic|likely pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
NM_006121.4(KRT1):c.1577G>T (p.Gly526Val) single nucleotide variant Inborn genetic diseases [RCV003259425] Chr12:52675551 [GRCh38]
Chr12:53069335 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_006121.4(KRT1):c.409G>T (p.Gly137Cys) single nucleotide variant Inborn genetic diseases [RCV003259328] Chr12:52679940 [GRCh38]
Chr12:53073724 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_006121.4(KRT1):c.744T>A (p.Asp248Glu) single nucleotide variant Abnormality of the skin [RCV000626892] Chr12:52678604 [GRCh38]
Chr12:53072388 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_006121.4(KRT1):c.612G>C (p.Gln204His) single nucleotide variant not provided [RCV000658189] Chr12:52678736 [GRCh38]
Chr12:53072520 [GRCh37]
Chr12:12q13.13		 uncertain significance
NC_000012.11:g.26370251_54361538inv inversion not specified [RCV000714265] Chr12:26370251..54361538 [GRCh37]
Chr12:12p12.1-q13.13		 uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
NM_006121.4(KRT1):c.1236C>T (p.Ile412=) single nucleotide variant not provided [RCV000944049] Chr12:52677077 [GRCh38]
Chr12:53070861 [GRCh37]
Chr12:12q13.13		 likely benign
NM_006121.4(KRT1):c.256C>A (p.Arg86Ser) single nucleotide variant KRT1-related condition [RCV003905902]|not provided [RCV000965893] Chr12:52680093 [GRCh38]
Chr12:53073877 [GRCh37]
Chr12:12q13.13		 benign
NM_006121.4(KRT1):c.193C>T (p.Arg65Trp) single nucleotide variant not provided [RCV000969075] Chr12:52680156 [GRCh38]
Chr12:53073940 [GRCh37]
Chr12:12q13.13		 likely benign
NM_006121.4(KRT1):c.1851A>T (p.Gly617=) single nucleotide variant not provided [RCV000979268] Chr12:52675277 [GRCh38]
Chr12:53069061 [GRCh37]
Chr12:12q13.13		 likely benign
NM_006121.4(KRT1):c.651G>C (p.Gln217His) single nucleotide variant KRT1-related condition [RCV003396567]|not provided [RCV000977363] Chr12:52678697 [GRCh38]
Chr12:53072481 [GRCh37]
Chr12:12q13.13		 likely benign|uncertain significance
NM_006121.4(KRT1):c.288TGGTGGCTTTGGTGG[2] (p.99FGGGG[2]) microsatellite not provided [RCV000892475] Chr12:52680017..52680031 [GRCh38]
Chr12:53073801..53073815 [GRCh37]
Chr12:12q13.13		 benign
NM_006121.4(KRT1):c.1510+1G>T single nucleotide variant not specified [RCV000825945] Chr12:52675709 [GRCh38]
Chr12:53069493 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_006121.4(KRT1):c.1294C>T (p.Arg432Cys) single nucleotide variant Bullous ichthyosiform erythroderma [RCV001113872]|Diffuse nonepidermolytic palmoplantar keratoderma [RCV001113873]|not provided [RCV003718331] Chr12:52676456 [GRCh38]
Chr12:53070240 [GRCh37]
Chr12:12q13.13		 benign|likely benign
NM_006121.4(KRT1):c.*72G>T single nucleotide variant Bullous ichthyosiform erythroderma [RCV001113791]|Diffuse nonepidermolytic palmoplantar keratoderma [RCV001113792] Chr12:52675121 [GRCh38]
Chr12:53068905 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_006121.4(KRT1):c.1780_1787del (p.Gly594fs) deletion not provided [RCV001008983] Chr12:52675341..52675348 [GRCh38]
Chr12:53069125..53069132 [GRCh37]
Chr12:12q13.13		 likely pathogenic
NM_006121.4(KRT1):c.1511-11T>C single nucleotide variant Bullous ichthyosiform erythroderma [RCV001110562]|Diffuse nonepidermolytic palmoplantar keratoderma [RCV001110561] Chr12:52675628 [GRCh38]
Chr12:53069412 [GRCh37]
Chr12:12q13.13		 benign|likely benign
NM_006121.4(KRT1):c.593T>G (p.Val198Gly) single nucleotide variant not provided [RCV001556474] Chr12:52678755 [GRCh38]
Chr12:53072539 [GRCh37]
Chr12:12q13.13		 likely pathogenic
NM_006121.4(KRT1):c.63T>A (p.Ser21=) single nucleotide variant not provided [RCV000908632] Chr12:52680286 [GRCh38]
Chr12:53074070 [GRCh37]
Chr12:12q13.13		 likely benign
NM_006121.4(KRT1):c.790G>C (p.Glu264Gln) single nucleotide variant not provided [RCV003327979] Chr12:52678558 [GRCh38]
Chr12:53072342 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_006121.4(KRT1):c.1666G>A (p.Gly556Ser) single nucleotide variant Bullous ichthyosiform erythroderma [RCV001109769]|Diffuse nonepidermolytic palmoplantar keratoderma [RCV001109768]|not provided [RCV002556147] Chr12:52675462 [GRCh38]
Chr12:53069246 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_006121.4(KRT1):c.1564G>A (p.Gly522Ser) single nucleotide variant Bullous ichthyosiform erythroderma [RCV001109770]|Diffuse nonepidermolytic palmoplantar keratoderma [RCV001110560] Chr12:52675564 [GRCh38]
Chr12:53069348 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_006121.4(KRT1):c.1002T>C (p.Asn334=) single nucleotide variant Bullous ichthyosiform erythroderma [RCV001110650]|Diffuse nonepidermolytic palmoplantar keratoderma [RCV001109856] Chr12:52677442 [GRCh38]
Chr12:53071226 [GRCh37]
Chr12:12q13.13		 uncertain significance
GRCh37/hg19 12q13.13(chr12:52914323-53238344)x3 copy number gain not provided [RCV001006504] Chr12:52914323..53238344 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_006121.4(KRT1):c.729C>T (p.Asp243=) single nucleotide variant Bullous ichthyosiform erythroderma [RCV001110651]|Diffuse nonepidermolytic palmoplantar keratoderma [RCV001112623] Chr12:52678619 [GRCh38]
Chr12:53072403 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_006121.4(KRT1):c.592-142A>G single nucleotide variant not provided [RCV001646050] Chr12:52678898 [GRCh38]
Chr12:53072682 [GRCh37]
Chr12:12q13.13		 benign
NM_006121.4(KRT1):c.964-74T>C single nucleotide variant not provided [RCV001680538] Chr12:52677554 [GRCh38]
Chr12:53071338 [GRCh37]
Chr12:12q13.13		 benign
NM_006121.4(KRT1):c.592-147A>G single nucleotide variant not provided [RCV001713590] Chr12:52678903 [GRCh38]
Chr12:53072687 [GRCh37]
Chr12:12q13.13		 benign
NM_006121.4(KRT1):c.1358A>C (p.Gln453Pro) single nucleotide variant Bullous ichthyosiform erythroderma [RCV001113870]|Diffuse nonepidermolytic palmoplantar keratoderma [RCV001113871] Chr12:52676392 [GRCh38]
Chr12:53070176 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_006121.4(KRT1):c.45G>A (p.Gly15=) single nucleotide variant Bullous ichthyosiform erythroderma [RCV001113976]|Diffuse nonepidermolytic palmoplantar keratoderma [RCV001113977] Chr12:52680304 [GRCh38]
Chr12:53074088 [GRCh37]
Chr12:12q13.13		 benign|likely benign
NM_006121.4(KRT1):c.*197T>G single nucleotide variant Hereditary angioedema with normal C1Inh [RCV001027423] Chr12:52674996 [GRCh38]
Chr12:53068780 [GRCh37]
Chr12:12q13.13		 not provided
NM_006121.4(KRT1):c.284G>T (p.Gly95Val) single nucleotide variant not provided [RCV001889114] Chr12:52680065 [GRCh38]
Chr12:53073849 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_006121.4(KRT1):c.1642G>A (p.Gly548Ser) single nucleotide variant not provided [RCV001356628] Chr12:52675486 [GRCh38]
Chr12:53069270 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_006121.4(KRT1):c.564C>G (p.Asn188Lys) single nucleotide variant Annular epidermolytic ichthyosis [RCV001293646] Chr12:52679785 [GRCh38]
Chr12:53073569 [GRCh37]
Chr12:12q13.13		 likely pathogenic
NM_006121.4(KRT1):c.532T>C (p.Ser178Pro) single nucleotide variant Annular epidermolytic ichthyosis [RCV001270734] Chr12:52679817 [GRCh38]
Chr12:53073601 [GRCh37]
Chr12:12q13.13		 likely pathogenic
NM_006121.4(KRT1):c.78C>T (p.Asn26=) single nucleotide variant not provided [RCV003108927] Chr12:52680271 [GRCh38]
Chr12:53074055 [GRCh37]
Chr12:12q13.13		 benign|conflicting interpretations of pathogenicity
NM_006121.4(KRT1):c.793_806+1del deletion not provided [RCV001782354] Chr12:52678541..52678555 [GRCh38]
Chr12:53072325..53072339 [GRCh37]
Chr12:12q13.13		 likely pathogenic
NM_006121.4(KRT1):c.723_740del (p.Arg241_Lys246del) deletion not provided [RCV001770933] Chr12:52678608..52678625 [GRCh38]
Chr12:53072392..53072409 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_006121.4(KRT1):c.563A>T (p.Asn188Ile) single nucleotide variant Bullous ichthyosiform erythroderma [RCV001823798] Chr12:52679786 [GRCh38]
Chr12:53073570 [GRCh37]
Chr12:12q13.13		 likely pathogenic
NM_006121.4(KRT1):c.1012T>C (p.Ser338Pro) single nucleotide variant not provided [RCV002047299] Chr12:52677432 [GRCh38]
Chr12:53071216 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_006121.4(KRT1):c.1018G>C (p.Asp340His) single nucleotide variant not provided [RCV002011490] Chr12:52677426 [GRCh38]
Chr12:53071210 [GRCh37]
Chr12:12q13.13		 likely pathogenic
NM_006121.4(KRT1):c.1309_1320dup (p.Leu437_Ala440dup) duplication not provided [RCV001924745] Chr12:52676429..52676430 [GRCh38]
Chr12:53070213..53070214 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_006121.4(KRT1):c.867+7A>G single nucleotide variant not provided [RCV002110377] Chr12:52678156 [GRCh38]
Chr12:53071940 [GRCh37]
Chr12:12q13.13		 likely benign
NM_006121.4(KRT1):c.1413A>C (p.Thr471=) single nucleotide variant not provided [RCV002124702] Chr12:52676337 [GRCh38]
Chr12:53070121 [GRCh37]
Chr12:12q13.13		 benign
NM_006121.4(KRT1):c.1128+7G>A single nucleotide variant not provided [RCV002106109] Chr12:52677309 [GRCh38]
Chr12:53071093 [GRCh37]
Chr12:12q13.13		 benign
NM_006121.4(KRT1):c.1475+16T>C single nucleotide variant not provided [RCV002113887] Chr12:52676259 [GRCh38]
Chr12:53070043 [GRCh37]
Chr12:12q13.13		 benign
NM_006121.4(KRT1):c.935T>C (p.Ile312Thr) single nucleotide variant not provided [RCV002220485] Chr12:52677678 [GRCh38]
Chr12:53071462 [GRCh37]
Chr12:12q13.13		 likely benign
NM_006121.4(KRT1):c.1753G>T (p.Gly585Trp) single nucleotide variant not provided [RCV003112852] Chr12:52675375 [GRCh38]
Chr12:53069159 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_006121.4(KRT1):c.1433A>G (p.Glu478Gly) single nucleotide variant Bullous ichthyosiform erythroderma [RCV002272812] Chr12:52676317 [GRCh38]
Chr12:53070101 [GRCh37]
Chr12:12q13.13		 pathogenic
NM_006121.4(KRT1):c.48_49insAC (p.Phe17fs) insertion Diffuse nonepidermolytic palmoplantar keratoderma [RCV002471938] Chr12:52680300..52680301 [GRCh38]
Chr12:53074084..53074085 [GRCh37]
Chr12:12q13.13		 uncertain significance
GRCh37/hg19 12q13.13(chr12:52914324-53250644)x3 copy number gain not provided [RCV002474695] Chr12:52914324..53250644 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_006121.4(KRT1):c.1318G>A (p.Ala440Thr) single nucleotide variant Diffuse nonepidermolytic palmoplantar keratoderma [RCV002472035] Chr12:52676432 [GRCh38]
Chr12:53070216 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_006121.4(KRT1):c.1666_1687delinsA (p.Gly556_Gly563delinsSer) indel not provided [RCV003131408] Chr12:52675441..52675462 [GRCh38]
Chr12:53069225..53069246 [GRCh37]
Chr12:12q13.13		 uncertain significance
KRT1, 1-BP DEL, 1556G deletion Ichthyosis hystrix of Curth-Macklin [RCV002444397]   pathogenic
NM_006121.4(KRT1):c.1860dup (p.Gly621fs) duplication Ichthyosis hystrix of Curth-Macklin [RCV002444398] Chr12:52675267..52675268 [GRCh38]
Chr12:53069051..53069052 [GRCh37]
Chr12:12q13.13		 pathogenic
NM_006121.4(KRT1):c.1397A>G (p.Gln466Arg) single nucleotide variant not provided [RCV002306025] Chr12:52676353 [GRCh38]
Chr12:53070137 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_006121.4(KRT1):c.1577del (p.Gly526fs) deletion Ichthyosis hystrix of Curth-Macklin [RCV002444399] Chr12:52675551 [GRCh38]
Chr12:53069335 [GRCh37]
Chr12:12q13.13		 pathogenic
NM_006121.4(KRT1):c.1228T>C (p.Ser410Pro) single nucleotide variant not provided [RCV002881293] Chr12:52677085 [GRCh38]
Chr12:53070869 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_006121.4(KRT1):c.1853C>T (p.Ser618Phe) single nucleotide variant Inborn genetic diseases [RCV002773706] Chr12:52675275 [GRCh38]
Chr12:53069059 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_006121.4(KRT1):c.340A>T (p.Ile114Phe) single nucleotide variant Inborn genetic diseases [RCV002777751] Chr12:52680009 [GRCh38]
Chr12:53073793 [GRCh37]
Chr12:12q13.13		 likely benign
NM_006121.4(KRT1):c.320G>C (p.Gly107Ala) single nucleotide variant Inborn genetic diseases [RCV002754522] Chr12:52680029 [GRCh38]
Chr12:53073813 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_006121.4(KRT1):c.1798G>T (p.Gly600Cys) single nucleotide variant Inborn genetic diseases [RCV002869998] Chr12:52675330 [GRCh38]
Chr12:53069114 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_006121.4(KRT1):c.1108G>C (p.Glu370Gln) single nucleotide variant Inborn genetic diseases [RCV002822282] Chr12:52677336 [GRCh38]
Chr12:53071120 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_006121.4(KRT1):c.1894G>A (p.Val632Met) single nucleotide variant Inborn genetic diseases [RCV002987123] Chr12:52675234 [GRCh38]
Chr12:53069018 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_006121.4(KRT1):c.1120C>G (p.Gln374Glu) single nucleotide variant Inborn genetic diseases [RCV002802596] Chr12:52677324 [GRCh38]
Chr12:53071108 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_006121.4(KRT1):c.10C>G (p.Gln4Glu) single nucleotide variant not provided [RCV002914780] Chr12:52680339 [GRCh38]
Chr12:53074123 [GRCh37]
Chr12:12q13.13		 benign
NM_006121.4(KRT1):c.963+12A>T single nucleotide variant not provided [RCV002574863] Chr12:52677638 [GRCh38]
Chr12:53071422 [GRCh37]
Chr12:12q13.13		 benign
NM_006121.4(KRT1):c.1638C>T (p.Gly546=) single nucleotide variant KRT1-related condition [RCV003933807]|not provided [RCV002580992] Chr12:52675490 [GRCh38]
Chr12:53069274 [GRCh37]
Chr12:12q13.13		 likely benign
NM_006121.4(KRT1):c.568C>A (p.Gln190Lys) single nucleotide variant Inborn genetic diseases [RCV002831500] Chr12:52679781 [GRCh38]
Chr12:53073565 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_006121.4(KRT1):c.314G>T (p.Gly105Val) single nucleotide variant not provided [RCV002962846] Chr12:52680035 [GRCh38]
Chr12:53073819 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_006121.4(KRT1):c.1611_1691del (p.Gly548_Gly574del) deletion not provided [RCV002630454] Chr12:52675437..52675517 [GRCh38]
Chr12:53069221..53069301 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_006121.4(KRT1):c.584T>A (p.Ile195Asn) single nucleotide variant not provided [RCV003031063] Chr12:52679765 [GRCh38]
Chr12:53073549 [GRCh37]
Chr12:12q13.13		 pathogenic
NM_006121.4(KRT1):c.316G>A (p.Gly106Ser) single nucleotide variant Inborn genetic diseases [RCV002879134] Chr12:52680033 [GRCh38]
Chr12:53073817 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_006121.4(KRT1):c.533C>A (p.Ser178Tyr) single nucleotide variant Inborn genetic diseases [RCV002680259] Chr12:52679816 [GRCh38]
Chr12:53073600 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_006121.4(KRT1):c.806+1G>A single nucleotide variant not provided [RCV003146853] Chr12:52678541 [GRCh38]
Chr12:53072325 [GRCh37]
Chr12:12q13.13		 likely pathogenic
NM_006121.4(KRT1):c.449G>C (p.Gly150Ala) single nucleotide variant Inborn genetic diseases [RCV003263538] Chr12:52679900 [GRCh38]
Chr12:53073684 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_006121.4(KRT1):c.1847G>A (p.Arg616Gln) single nucleotide variant not provided [RCV003133955] Chr12:52675281 [GRCh38]
Chr12:53069065 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_006121.4(KRT1):c.1307C>A (p.Ala436Asp) single nucleotide variant Palmoplantar keratoderma, epidermolytic, 2 [RCV003234601]|not provided [RCV003133956] Chr12:52676443 [GRCh38]
Chr12:53070227 [GRCh37]
Chr12:12q13.13		 pathogenic|uncertain significance
NM_006121.4(KRT1):c.1816G>A (p.Gly606Ser) single nucleotide variant not provided [RCV003133957] Chr12:52675312 [GRCh38]
Chr12:53069096 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_006121.4(KRT1):c.1378C>T (p.Arg460Cys) single nucleotide variant not provided [RCV003133958] Chr12:52676372 [GRCh38]
Chr12:53070156 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_006121.4(KRT1):c.452G>A (p.Gly151Asp) single nucleotide variant Inborn genetic diseases [RCV003183537] Chr12:52679897 [GRCh38]
Chr12:53073681 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_006121.4(KRT1):c.83A>G (p.Gln28Arg) single nucleotide variant Inborn genetic diseases [RCV003219671] Chr12:52680266 [GRCh38]
Chr12:53074050 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_006121.4(KRT1):c.497A>G (p.Asn166Ser) single nucleotide variant Inborn genetic diseases [RCV003351922] Chr12:52679852 [GRCh38]
Chr12:53073636 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_006121.4(KRT1):c.470T>C (p.Ile157Thr) single nucleotide variant Inborn genetic diseases [RCV003366776] Chr12:52679879 [GRCh38]
Chr12:53073663 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_006121.4(KRT1):c.560T>C (p.Leu187Pro) single nucleotide variant Epidermolytic hyperkeratosis 1 [RCV003445237] Chr12:52679789 [GRCh38]
Chr12:53073573 [GRCh37]
Chr12:12q13.13		 pathogenic
NM_006121.4(KRT1):c.1824C>G (p.Ser608Arg) single nucleotide variant KRT1-related condition [RCV003397817] Chr12:52675304 [GRCh38]
Chr12:53069088 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_006121.4(KRT1):c.655G>T (p.Asp219Tyr) single nucleotide variant Ichthyosis [RCV003455872] Chr12:52678693 [GRCh38]
Chr12:53072477 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_006121.4(KRT1):c.1114T>C (p.Leu372=) single nucleotide variant not provided [RCV003690925] Chr12:52677330 [GRCh38]
Chr12:53071114 [GRCh37]
Chr12:12q13.13		 likely benign
NM_006121.4(KRT1):c.393A>T (p.Gly131=) single nucleotide variant not provided [RCV003391848] Chr12:52679956 [GRCh38]
Chr12:53073740 [GRCh37]
Chr12:12q13.13		 likely benign
NM_006121.4(KRT1):c.20C>T (p.Ser7Phe) single nucleotide variant not provided [RCV003391849] Chr12:52680329 [GRCh38]
Chr12:53074113 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_006121.4(KRT1):c.1912A>T (p.Thr638Ser) single nucleotide variant Epidermolytic hyperkeratosis 1 [RCV003458983] Chr12:52675216 [GRCh38]
Chr12:53069000 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_006121.4(KRT1):c.751C>T (p.Arg251Trp) single nucleotide variant not provided [RCV003879581] Chr12:52678597 [GRCh38]
Chr12:53072381 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_006121.4(KRT1):c.840A>G (p.Ala280=) single nucleotide variant not provided [RCV003713152] Chr12:52678190 [GRCh38]
Chr12:53071974 [GRCh37]
Chr12:12q13.13		 likely benign
NM_006121.4(KRT1):c.604G>A (p.Glu202Lys) single nucleotide variant not provided [RCV003713773] Chr12:52678744 [GRCh38]
Chr12:53072528 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_006121.4(KRT1):c.1454T>A (p.Leu485His) single nucleotide variant not provided [RCV003574230] Chr12:52676296 [GRCh38]
Chr12:53070080 [GRCh37]
Chr12:12q13.13		 likely pathogenic
NM_006121.4(KRT1):c.302G>C (p.Gly101Ala) single nucleotide variant KRT1-related condition [RCV003966466]|not provided [RCV003545299] Chr12:52680047 [GRCh38]
Chr12:53073831 [GRCh37]
Chr12:12q13.13		 likely benign|uncertain significance
NM_006121.4(KRT1):c.1864_1865del (p.Gly622fs) deletion not provided [RCV003549922] Chr12:52675263..52675264 [GRCh38]
Chr12:53069047..53069048 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_006121.4(KRT1):c.194G>A (p.Arg65Gln) single nucleotide variant not provided [RCV003548448] Chr12:52680155 [GRCh38]
Chr12:53073939 [GRCh37]
Chr12:12q13.13		 likely benign
NM_006121.4(KRT1):c.1129-15A>G single nucleotide variant not provided [RCV003855921] Chr12:52677199 [GRCh38]
Chr12:53070983 [GRCh37]
Chr12:12q13.13		 likely benign
NM_006121.4(KRT1):c.1295G>A (p.Arg432His) single nucleotide variant not provided [RCV003548863] Chr12:52676455 [GRCh38]
Chr12:53070239 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_006121.4(KRT1):c.1789G>A (p.Gly597Ser) single nucleotide variant not provided [RCV003731839] Chr12:52675339 [GRCh38]
Chr12:53069123 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_006121.4(KRT1):c.761C>T (p.Ser254Leu) single nucleotide variant not provided [RCV003562579] Chr12:52678587 [GRCh38]
Chr12:53072371 [GRCh37]
Chr12:12q13.13		 likely benign
NM_006121.4(KRT1):c.132G>C (p.Gly44=) single nucleotide variant not provided [RCV003550770] Chr12:52680217 [GRCh38]
Chr12:53074001 [GRCh37]
Chr12:12q13.13		 benign
NM_006121.4(KRT1):c.1475+6G>A single nucleotide variant not provided [RCV003857776] Chr12:52676269 [GRCh38]
Chr12:53070053 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_006121.4(KRT1):c.106A>G (p.Thr36Ala) single nucleotide variant not provided [RCV003847296] Chr12:52680243 [GRCh38]
Chr12:53074027 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_006121.4(KRT1):c.1792_1845del (p.Ser598_Gly615del) deletion not provided [RCV003732666] Chr12:52675283..52675336 [GRCh38]
Chr12:53069067..53069120 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_006121.4(KRT1):c.1782C>T (p.Gly594=) single nucleotide variant KRT1-related condition [RCV003929417] Chr12:52675346 [GRCh38]
Chr12:53069130 [GRCh37]
Chr12:12q13.13		 likely benign
NM_006121.4(KRT1):c.1137G>A (p.Glu379=) single nucleotide variant KRT1-related condition [RCV003959015] Chr12:52677176 [GRCh38]
Chr12:53070960 [GRCh37]
Chr12:12q13.13		 likely benign
NM_006121.4(KRT1):c.481C>T (p.Leu161Phe) single nucleotide variant not provided [RCV003887749] Chr12:52679868 [GRCh38]
Chr12:53073652 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_006121.4(KRT1):c.1443C>A (p.Thr481=) single nucleotide variant KRT1-related condition [RCV003944181] Chr12:52676307 [GRCh38]
Chr12:53070091 [GRCh37]
Chr12:12q13.13		 likely benign
NM_006121.4(KRT1):c.956A>G (p.Tyr319Cys) single nucleotide variant Inborn genetic diseases [RCV003341023] Chr12:52677657 [GRCh38]
Chr12:53071441 [GRCh37]
Chr12:12q13.13		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:410
Count of miRNA genes:354
Interacting mature miRNAs:370
Transcripts:ENST00000252244, ENST00000548765
Prediction methods:Microtar, 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
WI-17855  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371253,068,540 - 53,068,667UniSTSGRCh37
Build 361251,354,807 - 51,354,934RGDNCBI36
Celera1252,714,782 - 52,714,909RGD
Cytogenetic Map12q13.13UniSTS
HuRef1250,112,393 - 50,112,520UniSTS
GeneMap99-GB4 RH Map12227.97UniSTS
Whitehead-RH Map12317.0UniSTS
NCBI RH Map12442.2UniSTS
D12S757  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371253,069,371 - 53,070,415UniSTSGRCh37
Build 361251,355,638 - 51,356,682RGDNCBI36
Celera1252,715,613 - 52,716,657RGD
Cytogenetic Map12q13.13UniSTS
HuRef1250,113,203 - 50,114,245UniSTS
GDB:190621  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371253,068,963 - 53,069,530UniSTSGRCh37
Build 361251,355,230 - 51,355,797RGDNCBI36
Celera1252,715,205 - 52,715,772RGD
Cytogenetic Map12q13.13UniSTS
HuRef1250,112,816 - 50,113,362UniSTS
RH17765  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371253,068,663 - 53,068,824UniSTSGRCh37
Build 361251,354,930 - 51,355,091RGDNCBI36
Celera1252,714,905 - 52,715,066RGD
Cytogenetic Map12q13.13UniSTS
HuRef1250,112,516 - 50,112,677UniSTS
GeneMap99-GB4 RH Map12228.58UniSTS
NCBI RH Map12420.0UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 1 7 1292 1 1 3 68 7 3 693
Medium 134 655 76 44 514 13 261 123 168 4 97 119 33 92 190 1
Low 1897 2138 1054 258 658 161 2411 1828 2529 115 875 1052 100 1050 1825 2 1
Below cutoff 251 163 347 128 162 103 119 174 851 156 223 188 30 57 75 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008364 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC055716 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF237621 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF304164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC063697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB112126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI573920 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JN866515 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JN866516 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JN866517 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JN866518 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JN866519 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JN866520 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT583997 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M10938 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M98776 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X69725 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X69758 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000252244   ⟹   ENSP00000252244
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1252,674,736 - 52,680,407 (-)Ensembl
RefSeq Acc Id: ENST00000548765
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1252,675,723 - 52,677,517 (-)Ensembl
RefSeq Acc Id: NM_006121   ⟹   NP_006112
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381252,674,736 - 52,680,407 (-)NCBI
GRCh371253,068,520 - 53,074,191 (-)ENTREZGENE
Build 361251,354,787 - 51,360,458 (-)NCBI Archive
HuRef1250,112,373 - 50,118,022 (-)ENTREZGENE
CHM1_11253,035,321 - 53,040,992 (-)NCBI
T2T-CHM13v2.01252,639,281 - 52,644,932 (-)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_006112   ⟸   NM_006121
- UniProtKB: Q6GSJ0 (UniProtKB/Swiss-Prot),   Q14720 (UniProtKB/Swiss-Prot),   P86104 (UniProtKB/Swiss-Prot),   P85925 (UniProtKB/Swiss-Prot),   B2RA01 (UniProtKB/Swiss-Prot),   Q9H298 (UniProtKB/Swiss-Prot),   P04264 (UniProtKB/Swiss-Prot),   H6VRF8 (UniProtKB/TrEMBL),   H6VRG1 (UniProtKB/TrEMBL),   H6VRG2 (UniProtKB/TrEMBL),   H6VRG3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000252244   ⟸   ENST00000252244
Protein Domains
IF rod

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P04264-F1-model_v2 AlphaFold P04264 1-644 view protein structure

Promoters
RGD ID:6849490
Promoter ID:EP11083
Type:single initiation site
Name:HS_KRT1
Description:Keratin 67K.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Tissues & Cell Lines:epidermal cells
Experiment Methods:Sequencing of a full-length cDNA
Position:
Human AssemblyChrPosition (strand)Source
Build 361251,360,444 - 51,360,504EPD
RGD ID:7224027
Promoter ID:EPDNEW_H17759
Type:multiple initiation site
Name:KRT1_1
Description:keratin 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H17812  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381252,680,407 - 52,680,467EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6412 AgrOrtholog
COSMIC KRT1 COSMIC
Ensembl Genes ENSG00000167768 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000252244 ENTREZGENE
  ENST00000252244.3 UniProtKB/Swiss-Prot
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 ENSG00000167768 GTEx
HGNC ID HGNC:6412 ENTREZGENE
Human Proteome Map KRT1 Human Proteome Map
InterPro IF_conserved UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IF_rod_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Keratin_2_1_tail UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Keratin_2_head UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Keratin_II UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3848 UniProtKB/Swiss-Prot
NCBI Gene 3848 ENTREZGENE
OMIM 139350 OMIM
PANTHER GATA-TYPE DOMAIN-CONTAINING PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KERATIN, TYPE II CYTOSKELETAL 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Filament UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Keratin_2_head UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Keratin_2_tail UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30199 PharmGKB
PRINTS TYPE2KERATIN 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
UniProt B2RA01 ENTREZGENE
  H6VRF8 ENTREZGENE, UniProtKB/TrEMBL
  H6VRF9_HUMAN UniProtKB/TrEMBL
  H6VRG0_HUMAN UniProtKB/TrEMBL
  H6VRG1 ENTREZGENE, UniProtKB/TrEMBL
  H6VRG2 ENTREZGENE, UniProtKB/TrEMBL
  H6VRG3 ENTREZGENE, UniProtKB/TrEMBL
  K2C1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  P85925 ENTREZGENE
  P86104 ENTREZGENE
  Q14720 ENTREZGENE
  Q6GSJ0 ENTREZGENE
  Q9H298 ENTREZGENE
UniProt Secondary B2RA01 UniProtKB/Swiss-Prot
  P85925 UniProtKB/Swiss-Prot
  P86104 UniProtKB/Swiss-Prot
  Q14720 UniProtKB/Swiss-Prot
  Q6GSJ0 UniProtKB/Swiss-Prot
  Q9H298 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-14 KRT1  keratin 1  KRT1  keratin 1, type II  Symbol and/or name change 5135510 APPROVED
2015-01-27 KRT1  keratin 1, type II  KRT1  keratin 1  Symbol and/or name change 5135510 APPROVED