### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = KRT85)
# charset = UTF-8

## Genes ## Do not remove or alter this header ##
## Count = 1
"{{id}}"	"{{name}}"	"{{chromosome}}"	"{{chrom_band}}"	"{{imprinting}}"	"{{refseq_genomic}}"	"{{refseq_UD}}"	"{{reference}}"	"{{url_homepage}}"	"{{url_external}}"	"{{allow_download}}"	"{{id_hgnc}}"	"{{id_entrez}}"	"{{id_omim}}"	"{{show_hgmd}}"	"{{show_genecards}}"	"{{show_genetests}}"	"{{show_orphanet}}"	"{{note_index}}"	"{{note_listing}}"	"{{refseq}}"	"{{refseq_url}}"	"{{disclaimer}}"	"{{disclaimer_text}}"	"{{header}}"	"{{header_align}}"	"{{footer}}"	"{{footer_align}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{updated_by}}"	"{{updated_date}}"
"KRT85"	"keratin 85"	"12"	"q12-q13"	"unknown"	"NC_000012.11"	"UD_132118648650"	""	"https://ww.LOVD.nl/KRT85"	""	"1"	"6462"	"3891"	"602767"	"1"	"1"	"1"	"1"	"Alias KRTHB5.\r\nEstablishment of this gene variant database (LSDB) was supported by the <a href=\'http://www.LUMC.nl\' target=\'_blank\'>Leiden University Medical Center (LUMC)</a>, Leiden, Nederland."	""	"g"	"https://databases.lovd.nl/shared/refseq/KRT85_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00006"	"2023-12-06 21:58:41"	"00000"	"2024-04-19 20:27:30"


## Transcripts ## Do not remove or alter this header ##
## Count = 1
"{{id}}"	"{{geneid}}"	"{{name}}"	"{{id_mutalyzer}}"	"{{id_ncbi}}"	"{{id_ensembl}}"	"{{id_protein_ncbi}}"	"{{id_protein_ensembl}}"	"{{id_protein_uniprot}}"	"{{remarks}}"	"{{position_c_mrna_start}}"	"{{position_c_mrna_end}}"	"{{position_c_cds_end}}"	"{{position_g_mrna_start}}"	"{{position_g_mrna_end}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00010816"	"KRT85"	"keratin 85"	"001"	"NM_002283.3"	""	"NP_002274.1"	""	""	""	"-120"	"2371"	"1524"	"52761309"	"52753790"	""	"0000-00-00 00:00:00"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 3
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00344"	"EE"	"encephalopathy, epileptic (EE)"	""	""	""	""	""	"00006"	"2014-03-12 21:57:45"	"00006"	"2015-12-07 07:11:25"
"02408"	"ECTD4"	"dysplasia, ectodermal, type 4, hair/nail (ECTD-4)"	"AR"	"602032"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"05728"	"ECTD"	"dysplasia, ectodermal (ECTD)"	""	""	""	""	""	"00006"	"2020-04-20 19:23:21"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}"	"{{diseaseid}}"
"KRT85"	"02408"
"KRT85"	"05728"


## Individuals ## Do not remove or alter this header ##
## Count = 2
"{{id}}"	"{{fatherid}}"	"{{motherid}}"	"{{panelid}}"	"{{panel_size}}"	"{{license}}"	"{{owned_by}}"	"{{Individual/Reference}}"	"{{Individual/Remarks}}"	"{{Individual/Gender}}"	"{{Individual/Consanguinity}}"	"{{Individual/Origin/Geographic}}"	"{{Individual/Age_of_death}}"	"{{Individual/VIP}}"	"{{Individual/Data_av}}"	"{{Individual/Treatment}}"	"{{Individual/Origin/Population}}"	"{{Individual/Individual_ID}}"
"00177082"	""	""	""	"1"	""	"02552"	""	"mother German, father Swiss/Ghanaian"	"M"	"no"	"Germany;Ghana;Switzerland"	""	"0"	""	""	""	"73450"
"00443920"	""	""	""	"8"	""	"00006"	"{PMID:Naeem 2006:16525032}"	"5-generation family, 8 affected (4F, 4M)"	"F;M"	"yes"	"Pakistan"	""	"0"	""	""	""	"family"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{individualid}}"	"{{diseaseid}}"
"00177082"	"00344"
"00443920"	"05728"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00344, 02408, 05728
## Count = 2
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Inheritance}}"	"{{Phenotype/Age}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Age/Onset}}"	"{{Phenotype/Age/Diagnosis}}"	"{{Phenotype/Onset}}"	"{{Phenotype/Protein}}"	"{{Phenotype/Enzyme/CPK}}"	"{{Phenotype/Heart/Myocardium}}"	"{{Phenotype/Lung}}"	"{{Phenotype/Diagnosis/Definite}}"	"{{Phenotype/Diagnosis/Initial}}"
"0000141877"	"00344"	"00177082"	"02552"	"Unknown"	""	"HP:0008936\r\nHP:0002066\r\nHP:0011220\r\nHP:0008070\r\nHP:0002761\r\nHP:0001763"	"02y"	""	""	""	""	""	""	""	""
"0000333183"	"05728"	"00443920"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., ectodermal dysplasia of hair and nail type; total alopecia, nail dystrophy since birth, hairs absent from scalp, face, chest, arms, legs; born completely devoid of eyebrows and eyelashes, never developed axillary and pubic hair"	""	""	""	""	""	""	""	"ECTD4"	"ectodermal dysplasia"


## Screenings ## Do not remove or alter this header ##
## Count = 2
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000177978"	"00177082"	"1"	"02552"	"02552"	"2018-08-17 14:11:42"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"WES"
"0000445416"	"00443920"	"1"	"00006"	"00006"	"2023-12-06 22:04:04"	""	""	"SEQ"	"DNA"	""	""


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 1
"{{screeningid}}"	"{{geneid}}"
"0000445416"	"KRT85"


## Variants_On_Genome ## Do not remove or alter this header ##
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene.
## Count = 12
"{{id}}"	"{{allele}}"	"{{effectid}}"	"{{chromosome}}"	"{{position_g_start}}"	"{{position_g_end}}"	"{{type}}"	"{{average_frequency}}"	"{{owned_by}}"	"{{VariantOnGenome/DBID}}"	"{{VariantOnGenome/DNA}}"	"{{VariantOnGenome/Frequency}}"	"{{VariantOnGenome/Reference}}"	"{{VariantOnGenome/Restriction_site}}"	"{{VariantOnGenome/Published_as}}"	"{{VariantOnGenome/Remarks}}"	"{{VariantOnGenome/Genetic_origin}}"	"{{VariantOnGenome/Segregation}}"	"{{VariantOnGenome/dbSNP}}"	"{{VariantOnGenome/VIP}}"	"{{VariantOnGenome/Methylation}}"	"{{VariantOnGenome/ISCN}}"	"{{VariantOnGenome/DNA/hg38}}"	"{{VariantOnGenome/ClinVar}}"	"{{VariantOnGenome/ClinicalClassification}}"	"{{VariantOnGenome/ClinicalClassification/Method}}"
"0000281943"	"0"	"30"	"12"	"52756671"	"52756671"	"subst"	"0.00396716"	"02325"	"KRT85_000004"	"g.52756671C>T"	""	""	""	"KRT85(NM_002283.4):c.1044G>A (p.R348=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.52362887C>T"	""	"likely benign"	""
"0000281944"	"0"	"10"	"12"	"52760957"	"52760957"	"subst"	"0.0382071"	"02325"	"KRT85_000001"	"g.52760957C>T"	""	""	""	"KRT85(NM_002283.4):c.233G>A (p.R78H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.52367173C>T"	""	"benign"	""
"0000281945"	"0"	"50"	"12"	"52757038"	"52757038"	"subst"	"1.62472E-5"	"02325"	"KRT85_000003"	"g.52757038G>A"	""	""	""	"KRT85(NM_002283.3):c.943C>T (p.R315C), KRT85(NM_002283.4):c.943C>T (p.R315C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.52363254G>A"	""	"VUS"	""
"0000281946"	"0"	"50"	"12"	"52757037"	"52757037"	"subst"	"0.000154349"	"02325"	"KRT85_000002"	"g.52757037C>T"	""	""	""	"KRT85(NM_002283.4):c.944G>A (p.R315H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.52363253C>T"	""	"VUS"	""
"0000405997"	"3"	"30"	"12"	"52760957"	"52760957"	"subst"	"0.0382071"	"02552"	"KRT85_000001"	"g.52760957C>T"	""	"{PMID:Papuc 2019:30552426}"	""	""	""	"Germline"	""	"rs61630004"	"0"	""	""	"g.52367173C>T"	""	"likely benign"	""
"0000614288"	"0"	"50"	"12"	"52761053"	"52761053"	"subst"	"2.45787E-5"	"02325"	"KRT85_000005"	"g.52761053C>T"	""	""	""	"KRT85(NM_002283.4):c.137G>A (p.R46Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.52367269C>T"	""	"VUS"	""
"0000691374"	"0"	"50"	"12"	"52758951"	"52758951"	"subst"	"7.37608E-5"	"02325"	"KRT85_000006"	"g.52758951G>A"	""	""	""	"KRT85(NM_002283.4):c.424C>T (p.R142C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000805828"	"0"	"50"	"12"	"52757038"	"52757038"	"subst"	"1.62472E-5"	"01943"	"KRT85_000003"	"g.52757038G>A"	""	""	""	"KRT85(NM_002283.3):c.943C>T (p.R315C), KRT85(NM_002283.4):c.943C>T (p.R315C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000805829"	"0"	"30"	"12"	"52757953"	"52757953"	"subst"	"0.000142162"	"01943"	"KRT85_000007"	"g.52757953C>G"	""	""	""	"KRT85(NM_002283.3):c.691-6G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000863046"	"0"	"50"	"12"	"52758148"	"52758148"	"subst"	"0"	"02325"	"KRT85_000008"	"g.52758148T>C"	""	""	""	"KRT85(NM_002283.4):c.632A>G (p.Y211C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000952415"	"3"	"90"	"12"	"52760957"	"52760957"	"subst"	"0.0382071"	"00006"	"KRT85_000001"	"g.52760957C>T"	""	"{PMID:Naeem 2006:16525032}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.52367173C>T"	""	"pathogenic (recessive)"	""
"0000980357"	"0"	"50"	"12"	"52755252"	"52755252"	"subst"	"0"	"01804"	"KRT85_000009"	"g.52755252G>T"	""	""	""	"KRT85(NM_002283.4):c.1329C>A (p.(Val443=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""


## Variants_On_Transcripts ## Do not remove or alter this header ##
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene.
## Note: Only showing Variants_On_Transcript columns active for Genes KRT85
## Count = 12
"{{id}}"	"{{transcriptid}}"	"{{effectid}}"	"{{position_c_start}}"	"{{position_c_start_intron}}"	"{{position_c_end}}"	"{{position_c_end_intron}}"	"{{VariantOnTranscript/DNA}}"	"{{VariantOnTranscript/RNA}}"	"{{VariantOnTranscript/Protein}}"	"{{VariantOnTranscript/Exon}}"
"0000281943"	"00010816"	"30"	"1044"	"0"	"1044"	"0"	"c.1044G>A"	"r.(?)"	"p.(Arg348=)"	""
"0000281944"	"00010816"	"10"	"233"	"0"	"233"	"0"	"c.233G>A"	"r.(?)"	"p.(Arg78His)"	""
"0000281945"	"00010816"	"50"	"943"	"0"	"943"	"0"	"c.943C>T"	"r.(?)"	"p.(Arg315Cys)"	""
"0000281946"	"00010816"	"50"	"944"	"0"	"944"	"0"	"c.944G>A"	"r.(?)"	"p.(Arg315His)"	""
"0000405997"	"00010816"	"30"	"233"	"0"	"233"	"0"	"c.233G>A"	"r.(?)"	"p.(Arg78His)"	""
"0000614288"	"00010816"	"50"	"137"	"0"	"137"	"0"	"c.137G>A"	"r.(?)"	"p.(Arg46Gln)"	""
"0000691374"	"00010816"	"50"	"424"	"0"	"424"	"0"	"c.424C>T"	"r.(?)"	"p.(Arg142Cys)"	""
"0000805828"	"00010816"	"50"	"943"	"0"	"943"	"0"	"c.943C>T"	"r.(?)"	"p.(Arg315Cys)"	""
"0000805829"	"00010816"	"30"	"691"	"-6"	"691"	"-6"	"c.691-6G>C"	"r.(=)"	"p.(=)"	""
"0000863046"	"00010816"	"50"	"632"	"0"	"632"	"0"	"c.632A>G"	"r.(?)"	"p.(Tyr211Cys)"	""
"0000952415"	"00010816"	"90"	"233"	"0"	"233"	"0"	"c.233G>A"	"r.(?)"	"p.(Arg78His)"	""
"0000980357"	"00010816"	"50"	"1329"	"0"	"1329"	"0"	"c.1329C>A"	"r.(?)"	"p.(=)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 2
"{{screeningid}}"	"{{variantid}}"
"0000177978"	"0000405997"
"0000445416"	"0000952415"