KRT86 (keratin 86) - Rat Genome Database

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Gene: KRT86 (keratin 86) Homo sapiens
Analyze
Symbol: KRT86
Name: keratin 86
RGD ID: 1348087
HGNC Page HGNC:6463
Description: Predicted to be a structural constituent of skin epidermis. Predicted to be involved in intermediate filament organization and keratinization. Located in keratin filament. Implicated in hair disease and monilethrix.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: FLJ25176; hair keratin K2.11; hard keratin, type II, 6; Hb1; HB6; hHb6; K86; keratin 86, type II; keratin protein HB6; keratin, hair, basic, 6 (monilethrix); keratin, type II cuticular Hb6; keratin-86; KRTHB1; KRTHB6; MNX; type II hair keratin Hb6; type-II keratin Kb26
RGD Orthologs
Mouse
Rat
Dog
Pig
Alliance Genes
More Info more info ...
Related Pseudogenes: KRT87P   KRT88P  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381252,274,645 - 52,309,163 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1252,249,300 - 52,309,163 (+)EnsemblGRCh38hg38GRCh38
GRCh371252,668,429 - 52,702,947 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361250,981,916 - 50,989,214 (+)NCBINCBI36Build 36hg18NCBI36
Build 341250,981,915 - 50,989,212NCBI
Celera1251,498,324 - 51,499,639 (+)NCBICelera
Cytogenetic Map12q13.13NCBI
HuRef1249,729,376 - 49,736,676 (+)NCBIHuRef
CHM1_11252,662,295 - 52,669,596 (+)NCBICHM1_1
T2T-CHM13v2.01252,238,211 - 52,273,084 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
genetic disease  (IAGP)
hair disease  (IAGP)
monilethrix  (EXP,IAGP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytosol  (IEA,TAS)
extracellular space  (HDA,IEA)
intermediate filament  (IEA)
keratin filament  (IBA,IEA,IPI)

Molecular Function

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. 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. Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix. Winter H, etal., Nat Genet. 1997 Aug;16(4):372-4.
Additional References at PubMed
PMID:7556444   PMID:9084137   PMID:9402962   PMID:9457912   PMID:9665406   PMID:9804356   PMID:10469314   PMID:10504448   PMID:10594761   PMID:10692104   PMID:10878478   PMID:11329013  
PMID:12477932   PMID:15050877   PMID:15183744   PMID:15489334   PMID:15744029   PMID:15797458   PMID:16831889   PMID:17207965   PMID:18393232   PMID:19380743   PMID:19505862   PMID:21873635  
PMID:22568869   PMID:22670615   PMID:23376485   PMID:23383108   PMID:23580065   PMID:23956138   PMID:23981620   PMID:24535457   PMID:24711643   PMID:25416956   PMID:25557232   PMID:25809918  
PMID:27545878   PMID:27609421   PMID:29701253   PMID:31324722   PMID:31515488   PMID:31594818   PMID:32203420   PMID:32296183   PMID:32989256   PMID:33961781   PMID:36517590   PMID:36724073  
PMID:37120454  


Genomics

Comparative Map Data
KRT86
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381252,274,645 - 52,309,163 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1252,249,300 - 52,309,163 (+)EnsemblGRCh38hg38GRCh38
GRCh371252,668,429 - 52,702,947 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361250,981,916 - 50,989,214 (+)NCBINCBI36Build 36hg18NCBI36
Build 341250,981,915 - 50,989,212NCBI
Celera1251,498,324 - 51,499,639 (+)NCBICelera
Cytogenetic Map12q13.13NCBI
HuRef1249,729,376 - 49,736,676 (+)NCBIHuRef
CHM1_11252,662,295 - 52,669,596 (+)NCBICHM1_1
T2T-CHM13v2.01252,238,211 - 52,273,084 (+)NCBIT2T-CHM13v2.0
Krt86
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3915101,371,359 - 101,377,864 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl15101,371,359 - 101,377,867 (+)EnsemblGRCm39 Ensembl
GRCm3815101,473,478 - 101,479,983 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl15101,473,478 - 101,479,986 (+)EnsemblGRCm38mm10GRCm38
MGSCv3715101,303,909 - 101,310,414 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3615101,301,512 - 101,308,017 (+)NCBIMGSCv36mm8
Celera15103,622,148 - 103,628,624 (+)NCBICelera
Cytogenetic Map15F2NCBI
cM Map1556.9NCBI
Krt86
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr87134,470,224 - 134,476,873 (+)NCBIGRCr8
mRatBN7.27132,591,489 - 132,598,142 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl7132,591,545 - 132,598,021 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx7134,393,227 - 134,399,888 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.07136,622,747 - 136,629,412 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.07136,532,533 - 136,539,194 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.07143,122,285 - 143,128,932 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7143,122,269 - 143,128,932 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.07140,922,818 - 140,929,091 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47140,222,555 - 140,228,828 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.17140,298,991 - 140,305,265 (+)NCBI
Celera7129,054,496 - 129,060,769 (+)NCBICelera
Cytogenetic Map7q36NCBI
KRT86
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1272,760,351 - 2,767,144 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2743,486,343 - 43,493,377 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0272,759,708 - 2,766,856 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl272,656,611 - 2,826,996 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1272,776,476 - 2,783,534 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0272,762,436 - 2,769,583 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02743,884,460 - 43,891,615 (+)NCBIUU_Cfam_GSD_1.0
LOC106507258
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1517,624,096 - 17,631,111 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2518,085,293 - 18,093,365 (-)NCBISscrofa10.2Sscrofa10.2susScr3

Variants

.
Variants in KRT86
144 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001320198.2(KRT86):c.1237G>A (p.Glu413Lys) single nucleotide variant Beaded hair [RCV000008048]|not provided [RCV000056959] Chr12:52306270 [GRCh38]
Chr12:52700054 [GRCh37]
Chr12:12q13.13		 pathogenic|not provided
NM_001320198.2(KRT86):c.1239G>T (p.Glu413Asp) single nucleotide variant Beaded hair [RCV000008049]|not provided [RCV000056960] Chr12:52306272 [GRCh38]
Chr12:52700056 [GRCh37]
Chr12:12q13.13		 pathogenic|not provided
NM_001320198.2(KRT86):c.1204G>A (p.Glu402Lys) single nucleotide variant Beaded hair [RCV000008050]|not provided [RCV000056957] Chr12:52306237 [GRCh38]
Chr12:52700021 [GRCh37]
Chr12:12q13.13		 pathogenic|not provided
NM_001320198.2(KRT86):c.340A>G (p.Asn114Asp) single nucleotide variant Beaded hair [RCV000008051]|not provided [RCV000056963] Chr12:52302256 [GRCh38]
Chr12:52696040 [GRCh37]
Chr12:12q13.13		 pathogenic|not provided
NM_001320198.2(KRT86):c.1204G>C (p.Glu402Gln) single nucleotide variant Beaded hair [RCV000008052]|not provided [RCV000056958] Chr12:52306237 [GRCh38]
Chr12:52700021 [GRCh37]
Chr12:12q13.13		 pathogenic|not provided
NM_001320198.2(KRT86):c.353C>A (p.Ala118Glu) single nucleotide variant Beaded hair [RCV000008053]|not provided [RCV000056965] Chr12:52302269 [GRCh38]
Chr12:52696053 [GRCh37]
Chr12:12q13.13		 pathogenic|not provided
NM_001320198.2(KRT86):c.197G>A (p.Arg66His) single nucleotide variant not provided [RCV000056961] Chr12:52302113 [GRCh38]
Chr12:52695897 [GRCh37]
Chr12:12q13.13		 likely benign|not provided
NM_001320198.2(KRT86):c.340A>C (p.Asn114His) single nucleotide variant not provided [RCV000056962] Chr12:52302256 [GRCh38]
Chr12:52696040 [GRCh37]
Chr12:12q13.13		 not provided
NM_001320198.2(KRT86):c.348G>A (p.Arg116=) single nucleotide variant not provided [RCV000056964] Chr12:52302264 [GRCh38]
Chr12:52696048 [GRCh37]
Chr12:12q13.13		 benign|not provided
NM_001320198.2(KRT86):c.416A>C (p.Gln139Pro) single nucleotide variant not provided [RCV000056966] Chr12:52303146 [GRCh38]
Chr12:52696930 [GRCh37]
Chr12:12q13.13		 benign|not provided
NM_002281.4(KRT81):c.1237G>A (p.Glu413Lys) single nucleotide variant Beaded hair [RCV000007930]|not provided [RCV000056952] Chr12:52287112 [GRCh38]
Chr12:52680896 [GRCh37]
Chr12:12q13.13		 pathogenic|not provided
NM_002281.4(KRT81):c.1204G>A (p.Glu402Lys) single nucleotide variant Beaded hair [RCV000007931]|not provided [RCV000056951] Chr12:52287145 [GRCh38]
Chr12:52680929 [GRCh37]
Chr12:12q13.13		 pathogenic|not provided
NM_002281.4(KRT81):c.735+4C>T single nucleotide variant Beaded hair [RCV002504956]|not provided [RCV000056953] Chr12:52288357 [GRCh38]
Chr12:52682141 [GRCh37]
Chr12:12q13.13		 benign|not provided
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
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_001320198.2(KRT86):c.370-9G>A single nucleotide variant not provided [RCV001545156] Chr12:52303091 [GRCh38]
Chr12:52696875 [GRCh37]
Chr12:12q13.13		 likely benign
NM_002281.4(KRT81):c.416A>C (p.Gln139Pro) single nucleotide variant not provided [RCV001567839] Chr12:52290240 [GRCh38]
Chr12:52684024 [GRCh37]
Chr12:12q13.13		 likely benign
NM_001320198.2(KRT86):c.1027-15C>T single nucleotide variant not provided [RCV001575334] Chr12:52306045 [GRCh38]
Chr12:52699829 [GRCh37]
Chr12:12q13.13		 likely benign
NM_002281.4(KRT81):c.131del (p.Gly44fs) deletion not provided [RCV000598261] Chr12:52291335 [GRCh38]
Chr12:52685119 [GRCh37]
Chr12:12q13.13		 uncertain significance
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
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_002281.4(KRT81):c.869G>A (p.Arg290Gln) single nucleotide variant Inborn genetic diseases [RCV003271186] Chr12:52288015 [GRCh38]
Chr12:52681799 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_001320198.2(KRT86):c.1148C>A (p.Ala383Asp) single nucleotide variant Inborn genetic diseases [RCV003260936] Chr12:52306181 [GRCh38]
Chr12:52699965 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_002281.4(KRT81):c.652G>A (p.Ala218Thr) single nucleotide variant Inborn genetic diseases [RCV003256459] Chr12:52288444 [GRCh38]
Chr12:52682228 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_001320198.2(KRT86):c.884C>G (p.Ser295Cys) single nucleotide variant not provided [RCV000513530] Chr12:52305388 [GRCh38]
Chr12:52699172 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_002281.4(KRT81):c.846T>A (p.Tyr282Ter) single nucleotide variant Beaded hair [RCV000680028]|not provided [RCV003237985] Chr12:52288038 [GRCh38]
Chr12:52681822 [GRCh37]
Chr12:12q13.13		 pathogenic|conflicting interpretations of pathogenicity|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
GRCh37/hg19 12q13.13(chr12:52688766-52786026)x3 copy number gain not provided [RCV000750412] Chr12:52688766..52786026 [GRCh37]
Chr12:12q13.13		 benign
NM_001320198.2(KRT86):c.639+269C>T single nucleotide variant not provided [RCV001540730] Chr12:52304440 [GRCh38]
Chr12:52698224 [GRCh37]
Chr12:12q13.13		 benign
NM_001320198.2(KRT86):c.901-28A>G single nucleotide variant not provided [RCV001571254] Chr12:52305635 [GRCh38]
Chr12:52699419 [GRCh37]
Chr12:12q13.13		 likely benign
NM_001320198.2(KRT86):c.-4-10152C>T single nucleotide variant not provided [RCV001708351] Chr12:52291761 [GRCh38]
Chr12:52685545 [GRCh37]
Chr12:12q13.13		 benign
NM_001320198.2(KRT86):c.*279dup duplication not provided [RCV001680711] Chr12:52308856..52308857 [GRCh38]
Chr12:52702640..52702641 [GRCh37]
Chr12:12q13.13		 benign
NM_002281.4(KRT81):c.743T>G (p.Leu248Arg) single nucleotide variant not provided [RCV001693153] Chr12:52288141 [GRCh38]
Chr12:52681925 [GRCh37]
Chr12:12q13.13		 benign
NM_001320198.2(KRT86):c.370-249dup duplication not provided [RCV001693160] Chr12:52302841..52302842 [GRCh38]
Chr12:52696625..52696626 [GRCh37]
Chr12:12q13.13		 benign
NM_001320198.2(KRT86):c.639+269_639+271del deletion not provided [RCV001570288] Chr12:52304440..52304442 [GRCh38]
Chr12:52698224..52698226 [GRCh37]
Chr12:12q13.13		 likely benign
NM_001320198.2(KRT86):c.579-86G>C single nucleotide variant not provided [RCV001611846] Chr12:52304025 [GRCh38]
Chr12:52697809 [GRCh37]
Chr12:12q13.13		 benign
NM_002281.4(KRT81):c.1027-51T>C single nucleotide variant not provided [RCV001570771] Chr12:52287373 [GRCh38]
Chr12:52681157 [GRCh37]
Chr12:12q13.13		 likely benign
NM_001320198.2(KRT86):c.-4-10264C>G single nucleotide variant not provided [RCV001692791] Chr12:52291649 [GRCh38]
Chr12:52685433 [GRCh37]
Chr12:12q13.13		 benign
NM_001320198.2(KRT86):c.979C>T (p.Arg327Cys) single nucleotide variant not provided [RCV000947451] Chr12:52305741 [GRCh38]
Chr12:52699525 [GRCh37]
Chr12:12q13.13		 benign
NM_001320198.2(KRT86):c.1102T>C (p.Leu368=) single nucleotide variant Beaded hair [RCV002502909]|not provided [RCV000947453] Chr12:52306135 [GRCh38]
Chr12:52699919 [GRCh37]
Chr12:12q13.13		 benign|likely benign
NM_001320198.2(KRT86):c.1053T>C (p.Ala351=) single nucleotide variant Beaded hair [RCV002489293]|not provided [RCV000947452] Chr12:52306086 [GRCh38]
Chr12:52699870 [GRCh37]
Chr12:12q13.13		 benign|likely benign
NM_001320198.2(KRT86):c.1378A>G (p.Ser460Gly) single nucleotide variant Inborn genetic diseases [RCV003249358] Chr12:52308502 [GRCh38]
Chr12:52702286 [GRCh37]
Chr12:12q13.13		 likely benign
NM_001320198.2(KRT86):c.161T>C (p.Phe54Ser) single nucleotide variant Inborn genetic diseases [RCV003251512] Chr12:52302077 [GRCh38]
Chr12:52695861 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_001320198.2(KRT86):c.1002T>C (p.Ala334=) single nucleotide variant not provided [RCV001658539] Chr12:52305764 [GRCh38]
Chr12:52699548 [GRCh37]
Chr12:12q13.13		 benign
NM_002281.4(KRT81):c.*31A>G single nucleotide variant not provided [RCV001679112] Chr12:52286224 [GRCh38]
Chr12:52680008 [GRCh37]
Chr12:12q13.13		 benign
NM_002281.4(KRT81):c.969T>C (p.Asn323=) single nucleotide variant not provided [RCV001668060] Chr12:52287653 [GRCh38]
Chr12:52681437 [GRCh37]
Chr12:12q13.13		 benign
NM_002281.4(KRT81):c.1247+120C>T single nucleotide variant not provided [RCV001608437] Chr12:52286982 [GRCh38]
Chr12:52680766 [GRCh37]
Chr12:12q13.13		 benign
NM_001320198.2(KRT86):c.756C>G (p.Ser252=) single nucleotide variant not provided [RCV001569006] Chr12:52305260 [GRCh38]
Chr12:52699044 [GRCh37]
Chr12:12q13.13		 likely benign
NM_002281.4(KRT81):c.1053C>T (p.Ala351=) single nucleotide variant not provided [RCV001534890] Chr12:52287296 [GRCh38]
Chr12:52681080 [GRCh37]
Chr12:12q13.13		 benign
NM_001320198.2(KRT86):c.1044T>C (p.Ala348=) single nucleotide variant not provided [RCV001556318] Chr12:52306077 [GRCh38]
Chr12:52699861 [GRCh37]
Chr12:12q13.13		 likely benign
NM_002281.4(KRT81):c.370-9G>A single nucleotide variant not provided [RCV001561544] Chr12:52290295 [GRCh38]
Chr12:52684079 [GRCh37]
Chr12:12q13.13		 likely benign
NM_002281.4(KRT81):c.901-28A>G single nucleotide variant not provided [RCV001685132] Chr12:52287749 [GRCh38]
Chr12:52681533 [GRCh37]
Chr12:12q13.13		 benign
NM_002281.4(KRT81):c.60G>C (p.Pro20=) single nucleotide variant not provided [RCV001590002] Chr12:52291406 [GRCh38]
Chr12:52685190 [GRCh37]
Chr12:12q13.13		 likely benign
NM_001320198.2(KRT86):c.579-89C>T single nucleotide variant not provided [RCV001614138] Chr12:52304022 [GRCh38]
Chr12:52697806 [GRCh37]
Chr12:12q13.13		 benign
NM_001320198.2(KRT86):c.1247+191C>G single nucleotide variant not provided [RCV001577791] Chr12:52306471 [GRCh38]
Chr12:52700255 [GRCh37]
Chr12:12q13.13		 likely benign
NM_002281.4(KRT81):c.370-260_370-259insT insertion not provided [RCV001557800] Chr12:52290545..52290546 [GRCh38]
Chr12:52684329..52684330 [GRCh37]
Chr12:12q13.13		 likely benign
NM_001320198.2(KRT86):c.639+275C>T single nucleotide variant not provided [RCV001676733] Chr12:52304446 [GRCh38]
Chr12:52698230 [GRCh37]
Chr12:12q13.13		 benign
NM_001320198.2(KRT86):c.639+271A>G single nucleotide variant not provided [RCV001674815] Chr12:52304442 [GRCh38]
Chr12:52698226 [GRCh37]
Chr12:12q13.13		 benign
NM_001320198.2(KRT86):c.579-93T>C single nucleotide variant not provided [RCV001680591] Chr12:52304018 [GRCh38]
Chr12:52697802 [GRCh37]
Chr12:12q13.13		 benign
NM_001320198.2(KRT86):c.*278_*279dup duplication not provided [RCV001635593] Chr12:52308856..52308857 [GRCh38]
Chr12:52702640..52702641 [GRCh37]
Chr12:12q13.13		 benign
NM_001320198.2(KRT86):c.370-249del deletion not provided [RCV001539448] Chr12:52302842 [GRCh38]
Chr12:52696626 [GRCh37]
Chr12:12q13.13		 benign
NM_001320198.2(KRT86):c.579-144C>G single nucleotide variant not provided [RCV001539649] Chr12:52303967 [GRCh38]
Chr12:52697751 [GRCh37]
Chr12:12q13.13		 benign
NM_001320198.2(KRT86):c.370-250_370-249del deletion not provided [RCV001620894] Chr12:52302842..52302843 [GRCh38]
Chr12:52696626..52696627 [GRCh37]
Chr12:12q13.13		 benign
NM_001320198.2(KRT86):c.-4-10184G>T single nucleotide variant not provided [RCV001562660] Chr12:52291729 [GRCh38]
Chr12:52685513 [GRCh37]
Chr12:12q13.13		 likely benign
NM_001320198.2(KRT86):c.1248-271T>C single nucleotide variant not provided [RCV001557708] Chr12:52307962 [GRCh38]
Chr12:52701746 [GRCh37]
Chr12:12q13.13		 likely benign
NM_002281.4(KRT81):c.990A>G (p.Gln330=) single nucleotide variant not provided [RCV001595540] Chr12:52287632 [GRCh38]
Chr12:52681416 [GRCh37]
Chr12:12q13.13		 benign
NM_002281.4(KRT81):c.579-288G>A single nucleotide variant not provided [RCV001558977] Chr12:52289563 [GRCh38]
Chr12:52683347 [GRCh37]
Chr12:12q13.13		 likely benign
NM_001320198.2(KRT86):c.370-255_370-254insA insertion not provided [RCV001669423] Chr12:52302845..52302846 [GRCh38]
Chr12:52696629..52696630 [GRCh37]
Chr12:12q13.13		 benign
NM_001320198.2(KRT86):c.639+277_639+278insGTTT insertion not provided [RCV001552784] Chr12:52304448..52304449 [GRCh38]
Chr12:52698232..52698233 [GRCh37]
Chr12:12q13.13		 likely benign
NM_001320198.2(KRT86):c.*287A>G single nucleotide variant not provided [RCV001669561] Chr12:52308872 [GRCh38]
Chr12:52702656 [GRCh37]
Chr12:12q13.13		 benign
NM_001320198.2(KRT86):c.578+178G>C single nucleotide variant not provided [RCV001660930] Chr12:52303486 [GRCh38]
Chr12:52697270 [GRCh37]
Chr12:12q13.13		 benign
NM_002281.4(KRT81):c.37A>C (p.Ser13Arg) single nucleotide variant not provided [RCV001596016] Chr12:52291429 [GRCh38]
Chr12:52685213 [GRCh37]
Chr12:12q13.13		 benign
NM_001320198.2(KRT86):c.60C>G (p.Pro20=) single nucleotide variant not provided [RCV001590617] Chr12:52301976 [GRCh38]
Chr12:52695760 [GRCh37]
Chr12:12q13.13		 benign|likely benign
NM_001320198.2(KRT86):c.1027-116G>A single nucleotide variant not provided [RCV001670315] Chr12:52305944 [GRCh38]
Chr12:52699728 [GRCh37]
Chr12:12q13.13		 benign
NM_001320198.2(KRT86):c.*94A>G single nucleotide variant not provided [RCV001698818] Chr12:52308679 [GRCh38]
Chr12:52702463 [GRCh37]
Chr12:12q13.13		 benign
NM_001320198.2(KRT86):c.370-250_370-249dup duplication not provided [RCV001637962] Chr12:52302841..52302842 [GRCh38]
Chr12:52696625..52696626 [GRCh37]
Chr12:12q13.13		 benign
NM_001320198.2(KRT86):c.639+280G>T single nucleotide variant not provided [RCV001654117] Chr12:52304451 [GRCh38]
Chr12:52698235 [GRCh37]
Chr12:12q13.13		 benign
NM_001320198.2(KRT86):c.900+25G>T single nucleotide variant not provided [RCV001656887] Chr12:52305429 [GRCh38]
Chr12:52699213 [GRCh37]
Chr12:12q13.13		 benign
NM_001320198.2(KRT86):c.636G>A (p.Lys212=) single nucleotide variant not provided [RCV001698518] Chr12:52304168 [GRCh38]
Chr12:52697952 [GRCh37]
Chr12:12q13.13		 benign
NM_001320198.2(KRT86):c.-4-67C>T single nucleotide variant not provided [RCV001678430] Chr12:52301846 [GRCh38]
Chr12:52695630 [GRCh37]
Chr12:12q13.13		 benign
NM_002281.4(KRT81):c.297G>A (p.Ala99=) single nucleotide variant not provided [RCV001596343] Chr12:52291169 [GRCh38]
Chr12:52684953 [GRCh37]
Chr12:12q13.13		 likely benign
NM_001320198.2(KRT86):c.*264G>A single nucleotide variant not provided [RCV001667777] Chr12:52308849 [GRCh38]
Chr12:52702633 [GRCh37]
Chr12:12q13.13		 benign
NM_002281.4(KRT81):c.946C>T (p.Arg316Cys) single nucleotide variant not provided [RCV001682510] Chr12:52287676 [GRCh38]
Chr12:52681460 [GRCh37]
Chr12:12q13.13		 benign|likely benign
NM_001320198.2(KRT86):c.579-147A>C single nucleotide variant not provided [RCV001609658] Chr12:52303964 [GRCh38]
Chr12:52697748 [GRCh37]
Chr12:12q13.13		 benign
NM_001320198.2(KRT86):c.579-151T>C single nucleotide variant not provided [RCV001709420] Chr12:52303960 [GRCh38]
Chr12:52697744 [GRCh37]
Chr12:12q13.13		 benign
NM_001320198.2(KRT86):c.1248-309T>C single nucleotide variant not provided [RCV001679979] Chr12:52307924 [GRCh38]
Chr12:52701708 [GRCh37]
Chr12:12q13.13		 benign
NM_002281.4(KRT81):c.1026+98A>G single nucleotide variant not provided [RCV001612084] Chr12:52287498 [GRCh38]
Chr12:52681282 [GRCh37]
Chr12:12q13.13		 benign
NM_001320198.2(KRT86):c.1248-152C>T single nucleotide variant not provided [RCV001585447] Chr12:52308081 [GRCh38]
Chr12:52701865 [GRCh37]
Chr12:12q13.13		 likely benign
NM_001320198.2(KRT86):c.684T>C (p.Asn228=) single nucleotide variant Beaded hair [RCV002501966]|not provided [RCV001615410] Chr12:52304976 [GRCh38]
Chr12:52698760 [GRCh37]
Chr12:12q13.13		 benign|likely benign
NM_001320198.2(KRT86):c.1247+36C>A single nucleotide variant not provided [RCV001615470] Chr12:52306316 [GRCh38]
Chr12:52700100 [GRCh37]
Chr12:12q13.13		 benign
NM_001320198.2(KRT86):c.639+290C>A single nucleotide variant not provided [RCV001684582] Chr12:52304461 [GRCh38]
Chr12:52698245 [GRCh37]
Chr12:12q13.13		 benign
NM_001320198.2(KRT86):c.54C>T (p.Cys18=) single nucleotide variant not provided [RCV001652195] Chr12:52301970 [GRCh38]
Chr12:52695754 [GRCh37]
Chr12:12q13.13		 benign
NM_001320198.2(KRT86):c.873T>C (p.Ala291=) single nucleotide variant not provided [RCV001680087] Chr12:52305377 [GRCh38]
Chr12:52699161 [GRCh37]
Chr12:12q13.13		 benign
NM_001320198.2(KRT86):c.87C>T (p.Ala29=) single nucleotide variant not provided [RCV001612238] Chr12:52302003 [GRCh38]
Chr12:52695787 [GRCh37]
Chr12:12q13.13		 benign
NM_001320198.2(KRT86):c.639+273T>G single nucleotide variant not provided [RCV001682163] Chr12:52304444 [GRCh38]
Chr12:52698228 [GRCh37]
Chr12:12q13.13		 benign
NM_002281.4(KRT81):c.1077G>A (p.Ala359=) single nucleotide variant not provided [RCV001666482] Chr12:52287272 [GRCh38]
Chr12:52681056 [GRCh37]
Chr12:12q13.13		 benign
NM_002281.4(KRT81):c.736-36A>G single nucleotide variant not provided [RCV001537607] Chr12:52288184 [GRCh38]
Chr12:52681968 [GRCh37]
Chr12:12q13.13		 benign
NM_002281.4(KRT81):c.1385C>T (p.Ala462Val) single nucleotide variant not provided [RCV001667641] Chr12:52286388 [GRCh38]
Chr12:52680172 [GRCh37]
Chr12:12q13.13		 benign
NM_001320198.2(KRT86):c.900+114C>T single nucleotide variant not provided [RCV001587075] Chr12:52305518 [GRCh38]
Chr12:52699302 [GRCh37]
Chr12:12q13.13		 likely benign
NM_002281.4(KRT81):c.*102G>C single nucleotide variant not provided [RCV001663118] Chr12:52286153 [GRCh38]
Chr12:52679937 [GRCh37]
Chr12:12q13.13		 benign
NM_001320198.2(KRT86):c.*127C>T single nucleotide variant not provided [RCV001536314] Chr12:52308712 [GRCh38]
Chr12:52702496 [GRCh37]
Chr12:12q13.13		 benign
NM_001320198.2(KRT86):c.639+275del deletion not provided [RCV001581369] Chr12:52304446 [GRCh38]
Chr12:52698230 [GRCh37]
Chr12:12q13.13		 likely benign
NM_001320198.2(KRT86):c.735+4C>A single nucleotide variant not provided [RCV001356130] Chr12:52305031 [GRCh38]
Chr12:52698815 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_002281.4(KRT81):c.900+1G>T single nucleotide variant Beaded hair [RCV001334031] Chr12:52287983 [GRCh38]
Chr12:52681767 [GRCh37]
Chr12:12q13.13		 pathogenic
NM_001320198.2(KRT86):c.639+281C>T single nucleotide variant not provided [RCV001536158] Chr12:52304452 [GRCh38]
Chr12:52698236 [GRCh37]
Chr12:12q13.13		 benign
NM_002281.4(KRT81):c.900+54A>G single nucleotide variant not provided [RCV001694838] Chr12:52287930 [GRCh38]
Chr12:52681714 [GRCh37]
Chr12:12q13.13		 benign
NM_001320198.2(KRT86):c.736-60T>C single nucleotide variant not provided [RCV001593523] Chr12:52305180 [GRCh38]
Chr12:52698964 [GRCh37]
Chr12:12q13.13		 likely benign
NM_001320198.2(KRT86):c.639+301A>T single nucleotide variant not provided [RCV001651491] Chr12:52304472 [GRCh38]
Chr12:52698256 [GRCh37]
Chr12:12q13.13		 benign
NM_002281.4(KRT81):c.900+35T>G single nucleotide variant not provided [RCV001692620] Chr12:52287949 [GRCh38]
Chr12:52681733 [GRCh37]
Chr12:12q13.13		 benign
NM_002281.4(KRT81):c.1453G>A (p.Val485Met) single nucleotide variant not provided [RCV002275982] Chr12:52286320 [GRCh38]
Chr12:52680104 [GRCh37]
Chr12:12q13.13		 benign
NM_001320198.2(KRT86):c.862C>T (p.Arg288Cys) single nucleotide variant Inborn genetic diseases [RCV002968372] Chr12:52305366 [GRCh38]
Chr12:52699150 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_002281.4(KRT81):c.1045G>A (p.Ala349Thr) single nucleotide variant Inborn genetic diseases [RCV002906472] Chr12:52287304 [GRCh38]
Chr12:52681088 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_002281.4(KRT81):c.1473C>A (p.Ser491Arg) single nucleotide variant Inborn genetic diseases [RCV002863993] Chr12:52286300 [GRCh38]
Chr12:52680084 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_002281.4(KRT81):c.136G>C (p.Gly46Arg) single nucleotide variant Inborn genetic diseases [RCV002990407] Chr12:52291330 [GRCh38]
Chr12:52685114 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_001320198.2(KRT86):c.311A>C (p.Gln104Pro) single nucleotide variant Inborn genetic diseases [RCV002841062] Chr12:52302227 [GRCh38]
Chr12:52696011 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_002281.4(KRT81):c.241G>T (p.Val81Leu) single nucleotide variant Inborn genetic diseases [RCV002902636] Chr12:52291225 [GRCh38]
Chr12:52685009 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_001320198.2(KRT86):c.893G>A (p.Arg298His) single nucleotide variant Inborn genetic diseases [RCV002733614] Chr12:52305397 [GRCh38]
Chr12:52699181 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_002281.4(KRT81):c.1324G>A (p.Val442Met) single nucleotide variant Inborn genetic diseases [RCV002733462] Chr12:52286449 [GRCh38]
Chr12:52680233 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_002281.4(KRT81):c.1034A>G (p.Lys345Arg) single nucleotide variant Inborn genetic diseases [RCV002865466] Chr12:52287315 [GRCh38]
Chr12:52681099 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_002281.4(KRT81):c.1396G>A (p.Gly466Ser) single nucleotide variant Inborn genetic diseases [RCV002692861] Chr12:52286377 [GRCh38]
Chr12:52680161 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_001320198.2(KRT86):c.743G>T (p.Arg248Leu) single nucleotide variant Inborn genetic diseases [RCV002926236] Chr12:52305247 [GRCh38]
Chr12:52699031 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_001320198.2(KRT86):c.1393G>C (p.Gly465Arg) single nucleotide variant Inborn genetic diseases [RCV002925973] Chr12:52308517 [GRCh38]
Chr12:52702301 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_001320198.2(KRT86):c.415C>A (p.Gln139Lys) single nucleotide variant Inborn genetic diseases [RCV002660176] Chr12:52303145 [GRCh38]
Chr12:52696929 [GRCh37]
Chr12:12q13.13		 likely benign
NM_001320198.2(KRT86):c.950G>A (p.Arg317His) single nucleotide variant Inborn genetic diseases [RCV002980888] Chr12:52305712 [GRCh38]
Chr12:52699496 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_001320198.2(KRT86):c.812T>C (p.Met271Thr) single nucleotide variant Inborn genetic diseases [RCV002924246] Chr12:52305316 [GRCh38]
Chr12:52699100 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_001320198.2(KRT86):c.148G>A (p.Val50Met) single nucleotide variant Inborn genetic diseases [RCV002984000] Chr12:52302064 [GRCh38]
Chr12:52695848 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_002281.4(KRT81):c.1460C>G (p.Ser487Cys) single nucleotide variant Inborn genetic diseases [RCV002919568] Chr12:52286313 [GRCh38]
Chr12:52680097 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_002281.4(KRT81):c.28C>T (p.Arg10Cys) single nucleotide variant Inborn genetic diseases [RCV002891804] Chr12:52291438 [GRCh38]
Chr12:52685222 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_001320198.2(KRT86):c.690G>C (p.Glu230Asp) single nucleotide variant Inborn genetic diseases [RCV002849941] Chr12:52304982 [GRCh38]
Chr12:52698766 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_002281.4(KRT81):c.1508G>A (p.Arg503Gln) single nucleotide variant Inborn genetic diseases [RCV002698852] Chr12:52286265 [GRCh38]
Chr12:52680049 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_001320198.2(KRT86):c.1093C>T (p.Arg365Cys) single nucleotide variant Inborn genetic diseases [RCV002983380] Chr12:52306126 [GRCh38]
Chr12:52699910 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_001320198.2(KRT86):c.856G>T (p.Val286Phe) single nucleotide variant Inborn genetic diseases [RCV002964022] Chr12:52305360 [GRCh38]
Chr12:52699144 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_001320198.2(KRT86):c.226C>G (p.Pro76Ala) single nucleotide variant Inborn genetic diseases [RCV002769746] Chr12:52302142 [GRCh38]
Chr12:52695926 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_001320198.2(KRT86):c.232A>T (p.Ile78Phe) single nucleotide variant Inborn genetic diseases [RCV003010538] Chr12:52302148 [GRCh38]
Chr12:52695932 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_001320198.2(KRT86):c.136G>A (p.Gly46Ser) single nucleotide variant Inborn genetic diseases [RCV002835820] Chr12:52302052 [GRCh38]
Chr12:52695836 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_001320198.2(KRT86):c.722G>A (p.Arg241Gln) single nucleotide variant Inborn genetic diseases [RCV002961693] Chr12:52305014 [GRCh38]
Chr12:52698798 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_001320198.2(KRT86):c.878C>A (p.Ala293Asp) single nucleotide variant Inborn genetic diseases [RCV002939171] Chr12:52305382 [GRCh38]
Chr12:52699166 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_002281.4(KRT81):c.190G>A (p.Gly64Ser) single nucleotide variant Inborn genetic diseases [RCV002669458] Chr12:52291276 [GRCh38]
Chr12:52685060 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_001320198.2(KRT86):c.641A>T (p.Asp214Val) single nucleotide variant Inborn genetic diseases [RCV002808733] Chr12:52304933 [GRCh38]
Chr12:52698717 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_001320198.2(KRT86):c.1184C>G (p.Ser395Cys) single nucleotide variant Inborn genetic diseases [RCV002673435] Chr12:52306217 [GRCh38]
Chr12:52700001 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_001320198.2(KRT86):c.242T>C (p.Val81Ala) single nucleotide variant Inborn genetic diseases [RCV003219770] Chr12:52302158 [GRCh38]
Chr12:52695942 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_001320198.2(KRT86):c.856G>A (p.Val286Ile) single nucleotide variant Inborn genetic diseases [RCV003220174] Chr12:52305360 [GRCh38]
Chr12:52699144 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_002281.4(KRT81):c.655T>G (p.Tyr219Asp) single nucleotide variant Inborn genetic diseases [RCV003177909] Chr12:52288441 [GRCh38]
Chr12:52682225 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_002281.4(KRT81):c.880G>A (p.Glu294Lys) single nucleotide variant Inborn genetic diseases [RCV003219468] Chr12:52288004 [GRCh38]
Chr12:52681788 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_001320198.2(KRT86):c.1169A>G (p.Gln390Arg) single nucleotide variant Inborn genetic diseases [RCV003207565] Chr12:52306202 [GRCh38]
Chr12:52699986 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_002281.4(KRT81):c.640G>A (p.Asp214Asn) single nucleotide variant Inborn genetic diseases [RCV003205361] Chr12:52288456 [GRCh38]
Chr12:52682240 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_002281.4(KRT81):c.1374C>G (p.Asn458Lys) single nucleotide variant Inborn genetic diseases [RCV003193680] Chr12:52286399 [GRCh38]
Chr12:52680183 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_002281.4(KRT81):c.1474T>A (p.Ser492Thr) single nucleotide variant Inborn genetic diseases [RCV003309500] Chr12:52286299 [GRCh38]
Chr12:52680083 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_002281.4(KRT81):c.949C>T (p.Arg317Cys) single nucleotide variant not provided [RCV003329969] Chr12:52287673 [GRCh38]
Chr12:52681457 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_001320198.2(KRT86):c.1160G>A (p.Arg387Lys) single nucleotide variant Inborn genetic diseases [RCV003351144] Chr12:52306193 [GRCh38]
Chr12:52699977 [GRCh37]
Chr12:12q13.13		 likely benign
NM_002281.4(KRT81):c.1093C>T (p.Arg365Cys) single nucleotide variant Inborn genetic diseases [RCV003350192] Chr12:52287256 [GRCh38]
Chr12:52681040 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_001320198.2(KRT86):c.880G>A (p.Glu294Lys) single nucleotide variant Inborn genetic diseases [RCV003349238] Chr12:52305384 [GRCh38]
Chr12:52699168 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_001320198.2(KRT86):c.1156A>C (p.Ile386Leu) single nucleotide variant Inborn genetic diseases [RCV003377987] Chr12:52306189 [GRCh38]
Chr12:52699973 [GRCh37]
Chr12:12q13.13		 likely benign
NM_002281.4(KRT81):c.1354G>C (p.Val452Leu) single nucleotide variant Inborn genetic diseases [RCV003366777] Chr12:52286419 [GRCh38]
Chr12:52680203 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_001320198.2(KRT86):c.993G>A (p.Arg331=) single nucleotide variant not provided [RCV003391834] Chr12:52305755 [GRCh38]
Chr12:52699539 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_002281.4(KRT81):c.138C>T (p.Gly46=) single nucleotide variant not provided [RCV003391832] Chr12:52291328 [GRCh38]
Chr12:52685112 [GRCh37]
Chr12:12q13.13		 likely benign
NM_001320198.2(KRT86):c.947G>A (p.Arg316His) single nucleotide variant not provided [RCV003391833] Chr12:52305709 [GRCh38]
Chr12:52699493 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_001320198.2(KRT86):c.-5+10305del deletion KRT86-related condition [RCV003929042]|not provided [RCV003390241] Chr12:52286248 [GRCh38]
Chr12:52680032 [GRCh37]
Chr12:12q13.13		 benign
GRCh37/hg19 12q13.13(chr12:52654531-52846133)x1 copy number loss not specified [RCV003986976] Chr12:52654531..52846133 [GRCh37]
Chr12:12q13.13		 uncertain significance
GRCh37/hg19 12q13.13(chr12:52654531-52847289)x1 copy number loss not specified [RCV003986974] Chr12:52654531..52847289 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_002281.4(KRT81):c.1395C>T (p.Thr465=) single nucleotide variant KRT81-related condition [RCV003961695] Chr12:52286378 [GRCh38]
Chr12:52680162 [GRCh37]
Chr12:12q13.13		 likely benign
NM_001320198.2(KRT86):c.*10G>C single nucleotide variant KRT86-related condition [RCV003922328] Chr12:52308595 [GRCh38]
Chr12:52702379 [GRCh37]
Chr12:12q13.13		 likely benign
NM_001320198.2(KRT86):c.1280-9C>G single nucleotide variant KRT86-related condition [RCV003931866] Chr12:52308395 [GRCh38]
Chr12:52702179 [GRCh37]
Chr12:12q13.13		 likely benign
NM_002281.4(KRT81):c.1312G>A (p.Gly438Arg) single nucleotide variant KRT81-related condition [RCV003969220] Chr12:52286461 [GRCh38]
Chr12:52680245 [GRCh37]
Chr12:12q13.13		 likely benign
NM_002281.4(KRT81):c.2T>G (p.Met1Arg) single nucleotide variant Beaded hair [RCV003131411] Chr12:52291464 [GRCh38]
Chr12:52685248 [GRCh37]
Chr12:12q13.13		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1306
Count of miRNA genes:587
Interacting mature miRNAs:669
Transcripts:ENST00000293525, ENST00000423955, ENST00000544024, ENST00000553310
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

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

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

Markers in Region
RH98291  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371252,679,725 - 52,679,906UniSTSGRCh37
Build 361250,965,992 - 50,966,173RGDNCBI36
Celera1251,482,397 - 51,482,578RGD
Cytogenetic Map12q13UniSTS
HuRef1249,713,454 - 49,713,635UniSTS
GeneMap99-GB4 RH Map12227.66UniSTS
RH121971  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371252,679,836 - 52,680,036UniSTSGRCh37
Build 361250,966,103 - 50,966,303RGDNCBI36
Celera1251,482,508 - 51,482,708RGD
Cytogenetic Map12q13UniSTS
HuRef1249,713,565 - 49,713,765UniSTS
TNG Radiation Hybrid Map1224208.0UniSTS
D12S763  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371252,642,574 - 52,642,773UniSTSGRCh37
Build 361250,928,841 - 50,929,040RGDNCBI36
Celera1251,445,017 - 51,445,216RGD
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map12q13UniSTS
HuRef1249,676,031 - 49,676,230UniSTS
G64252  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371252,680,265 - 52,680,431UniSTSGRCh37
Build 361250,966,532 - 50,966,698RGDNCBI36
Celera1251,482,937 - 51,483,103RGD
Cytogenetic Map12q13UniSTS
HuRef1249,713,994 - 49,714,160UniSTS
G64254  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371252,702,127 - 52,702,317UniSTSGRCh37
Build 361250,988,394 - 50,988,584RGDNCBI36
Cytogenetic Map12q13UniSTS
HuRef1249,745,781 - 49,745,971UniSTS
HuRef1249,735,856 - 49,736,046UniSTS
SHGC-142829  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371252,670,409 - 52,670,713UniSTSGRCh37
Build 361250,956,676 - 50,956,980RGDNCBI36
Celera1251,473,126 - 51,473,430RGD
Cytogenetic Map12q13UniSTS
HuRef1249,704,135 - 49,704,439UniSTS
TNG Radiation Hybrid Map1224258.0UniSTS
KRTHB1_8430  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371252,679,507 - 52,680,099UniSTSGRCh37
Build 361250,965,774 - 50,966,366RGDNCBI36
Celera1251,482,179 - 51,482,771RGD
HuRef1249,713,236 - 49,713,828UniSTS
RH17914  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371252,680,403 - 52,680,594UniSTSGRCh37
Build 361250,966,670 - 50,966,861RGDNCBI36
Celera1251,483,075 - 51,483,266RGD
Cytogenetic Map12q13UniSTS
HuRef1249,714,132 - 49,714,323UniSTS
GeneMap99-GB4 RH Map12227.66UniSTS
NCBI RH Map12420.0UniSTS
SGC33015  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371252,642,570 - 52,642,669UniSTSGRCh37
Build 361250,928,837 - 50,928,936RGDNCBI36
Celera1251,445,013 - 51,445,112RGD
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map12q13UniSTS
HuRef1249,676,027 - 49,676,126UniSTS
GeneMap99-GB4 RH Map12227.66UniSTS
Whitehead-RH Map12327.8UniSTS
NCBI RH Map12442.2UniSTS
KRT7_2779  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371252,642,358 - 52,642,763UniSTSGRCh37
Build 361250,928,625 - 50,929,030RGDNCBI36
Celera1251,444,801 - 51,445,206RGD
HuRef1249,675,815 - 49,676,220UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High 48 1 8
Medium 10 88 12 7 18 11 206 7 13 8 219 52 3 3 101
Low 1264 1373 967 230 492 82 1172 719 1158 201 640 1222 154 70 919 2
Below cutoff 1119 1250 670 320 1064 306 2752 1298 2454 185 505 321 14 1069 1699 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001320198 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005268866 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019296 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054372044 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054372045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC021066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC121757 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF416705 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF416706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI368926 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ000263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292237 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297794 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY037552 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY152543 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY152544 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY152545 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY203963 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC069585 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG216771 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC399862 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X99142 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y19211 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000293525   ⟹   ENSP00000293525
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1252,301,865 - 52,309,163 (+)Ensembl
RefSeq Acc Id: ENST00000423955   ⟹   ENSP00000444533
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1252,274,645 - 52,309,163 (+)Ensembl
RefSeq Acc Id: ENST00000553310   ⟹   ENSP00000452237
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1252,249,300 - 52,303,159 (+)Ensembl
RefSeq Acc Id: NM_001320198   ⟹   NP_001307127
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381252,274,645 - 52,309,163 (+)NCBI
CHM1_11252,635,048 - 52,669,596 (+)NCBI
T2T-CHM13v2.01252,238,561 - 52,273,084 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005268866   ⟹   XP_005268923
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381252,274,645 - 52,309,163 (+)NCBI
GRCh371252,642,892 - 52,702,947 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054372044   ⟹   XP_054228019
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01252,238,211 - 52,273,084 (+)NCBI
RefSeq Acc Id: XM_054372045   ⟹   XP_054228020
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01252,239,665 - 52,273,084 (+)NCBI
Reference Protein Sequences
RefSeq Acc Id: XP_005268923   ⟸   XM_005268866
- Peptide Label: isoform X1
- UniProtKB: A8K872 (UniProtKB/TrEMBL),   B4DN72 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001307127   ⟸   NM_001320198
- UniProtKB: P78387 (UniProtKB/Swiss-Prot),   O43790 (UniProtKB/Swiss-Prot),   A8K872 (UniProtKB/TrEMBL),   B4DN72 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000444533   ⟸   ENST00000423955
RefSeq Acc Id: ENSP00000293525   ⟸   ENST00000293525
RefSeq Acc Id: ENSP00000452237   ⟸   ENST00000553310
RefSeq Acc Id: XP_054228019   ⟸   XM_054372044
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054228020   ⟸   XM_054372045
- Peptide Label: isoform X2
Protein Domains
IF rod

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O43790-F1-model_v2 AlphaFold O43790 1-486 view protein structure

Promoters
RGD ID:7223999
Promoter ID:EPDNEW_H17744
Type:single initiation site
Name:KRT86_2
Description:keratin 86
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H17743  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381252,301,836 - 52,301,896EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6463 AgrOrtholog
COSMIC KRT86 COSMIC
Ensembl Genes ENSG00000170442 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000293525.5 UniProtKB/Swiss-Prot
  ENST00000423955 ENTREZGENE
  ENST00000423955.7 UniProtKB/Swiss-Prot
  ENST00000553310.6 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 ENSG00000170442 GTEx
HGNC ID HGNC:6463 ENTREZGENE
Human Proteome Map KRT86 Human Proteome Map
InterPro IF_conserved UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IF_rod_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Keratin_2_head UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Keratin_II UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3892 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 3892 ENTREZGENE
OMIM 601928 OMIM
PANTHER GATA-TYPE DOMAIN-CONTAINING PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KERATIN, TYPE II CUTICULAR HB1 UniProtKB/TrEMBL, UniProtKB/Swiss-Prot
Pfam Filament UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Keratin_2_head UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30252 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 A8K872 ENTREZGENE, UniProtKB/TrEMBL
  B4DN72 ENTREZGENE, UniProtKB/TrEMBL
  KRT86_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  P78387 ENTREZGENE
  U3KPR1_HUMAN UniProtKB/TrEMBL
UniProt Secondary P78387 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-14 KRT86  keratin 86  KRT86  keratin 86, type II  Symbol and/or name change 5135510 APPROVED
2015-01-27 KRT86  keratin 86, type II  KRT86  keratin 86  Symbol and/or name change 5135510 APPROVED