### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = BANF1)
# 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}}"
"BANF1" "barrier to autointegration factor 1" "11" "q13.1" "unknown" "NG_031874.1" "UD_132465724021" "" "https://www.LOVD.nl/BANF1" "" "1" "17397" "8815" "603811" "1" "1" "1" "1" "This database is one of the gene variant databases from the:![](\"docs/LOVD_LMDp-logo.png\")
" "" "g" "https://databases.lovd.nl/shared/refseq/BANF1_codingDNA.html" "1" "" "This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages" "-1" "" "-1" "00001" "2013-01-31 00:00:00" "00006" "2019-01-20 12:55:33" "00000" "2020-06-30 18:21:47"
## 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}}"
"00003265" "BANF1" "transcript variant 1" "001" "NM_003860.3" "" "NP_003851.1" "" "" "" "-508" "644" "270" "65769550" "65771617" "" "0000-00-00 00:00:00" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 1
"{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"00960" "NGPS" "progeria syndrome, Nestor-Guillermo (NGPS)" "AR" "614008" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}" "{{diseaseid}}"
"BANF1" "00960"
## 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}}"
"00151382" "" "" "" "1" "" "00006" "{PMID:Puente 2011:21549337}, {PMID:Cabanillas 2011:21932319}" "2-generation family, 1 affacted, third-cousin parents, unaffected heterozygous carrier parents" "M" "yes" "Spain" ">31y" "0" "" "" "" ""
"00151383" "" "" "" "1" "" "00006" "{PMID:Puente 2011:21549337}, {PMID:Cabanillas 2011:21932319}" "2-generation family, 1 affacted, unaffected heterozygous carrier parents" "M" "no" "Spain" ">24y" "0" "" "" "" ""
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{individualid}}" "{{diseaseid}}"
"00151382" "00960"
"00151383" "00960"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00960
## 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}}"
"0000123776" "00960" "00151382" "00006" "Isolated (sporadic)" "" "" "2y" "" "failure to thrive, dry/atrophic skin with small light-brown spots" "" "" "" "" "" ""
"0000123777" "00960" "00151383" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" ""
## 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}}"
"0000152237" "00151382" "1" "00006" "00006" "2013-02-02 21:23:06" "00006" "2013-02-03 12:10:21" "SEQ" "DNA" "" ""
"0000152238" "00151383" "1" "00006" "00006" "2013-02-02 22:08:06" "00006" "2013-02-03 12:10:21" "SEQ;SEQ-NG-I" "DNA" "" ""
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 2
"{{screeningid}}" "{{geneid}}"
"0000152237" "BANF1"
"0000152238" "BANF1"
## 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 = 7
"{{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}}"
"0000245365" "3" "10" "11" "65769780" "65769780" "subst" "0" "00006" "BANF1_000002" "g.65769780T>G" "" "{PMID:Puente 2011:21549337}" "" "" "" "Germline" "" "rs14157" "0" "" "" "g.66002309T>G" "" "benign" ""
"0000245366" "3" "10" "11" "65769809" "65769809" "subst" "0" "00006" "BANF1_000003" "g.65769809G>C" "" "{PMID:Puente 2011:21549337}" "" "" "" "Germline" "" "rs1786171" "0" "" "" "g.66002338G>C" "" "benign" ""
"0000245367" "3" "10" "11" "65770658" "65770658" "subst" "0" "00006" "BANF1_000004" "g.65770658A>G" "" "{PMID:Puente 2011:21549337}" "" "" "" "Germline" "" "rs1786172" "0" "" "" "g.66003187A>G" "" "benign" ""
"0000245368" "3" "90" "11" "65770755" "65770755" "subst" "0" "00006" "BANF1_000001" "g.65770755G>A" "" "{PMID:Puente 2011:21549337}, {OMIM603811:0001}" "" "chr11.hg19:g.65770755G>A" "exome squencing/homozygosity mapping; not in 400 control chromosomes; normal mRNA level, strongly reduced protein; carries KRTAP5-11:Gly2Ser, AQP11:Gln145Pro" "Germline" "yes" "" "0" "" "" "g.66003284G>A" "" "pathogenic" ""
"0000245369" "3" "90" "11" "65770755" "65770755" "subst" "0" "00006" "BANF1_000001" "g.65770755G>A" "" "{PMID:Puente 2011:21549337}, {OMIM603811:0001}" "" "chr11.hg19:g.65770755G>A" "exome squencing/homozygosity mapping; not in 400 control chromosome" "Germline" "yes" "" "0" "" "" "g.66003284G>A" "" "pathogenic" ""
"0000245370" "3" "10" "11" "65771060" "65771066" "del" "0" "00006" "BANF1_000005" "g.65771060_65771066del" "" "{PMID:Puente 2011:21549337}" "" "" "" "Germline" "" "rs56984820" "0" "" "" "g.66003589_66003595del" "" "benign" ""
"0000245371" "0" "90" "11" "65770755" "65770755" "subst" "0" "00006" "BANF1_000001" "g.65770755G>A" "" "{PMID:Puente 2011:21549337}" "" "" "expression cloning normal BANF1 rescues nuclear abnormalities" "In vitro (cloned)" "" "" "0" "" "" "g.66003284G>A" "" "NA" ""
## 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 BANF1
## Count = 7
"{{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}}"
"0000245365" "00003265" "10" "-278" "0" "-278" "0" "c.-278T>G" "r.(?)" "p.(=)" "1"
"0000245366" "00003265" "10" "-249" "0" "-249" "0" "c.-249G>C" "r.(?)" "p.(=)" "1"
"0000245367" "00003265" "10" "-16" "-48" "-16" "-48" "c.-16-48A>G" "r.(?)" "p.(=)" "1i"
"0000245368" "00003265" "90" "34" "0" "34" "0" "c.34G>A" "r.(?)" "p.(Ala12Thr)" "2"
"0000245369" "00003265" "90" "34" "0" "34" "0" "c.34G>A" "r.(?)" "p.(Ala12Thr)" "2"
"0000245370" "00003265" "10" "124" "-37" "124" "-31" "c.124-37_124-31del" "r.(?)" "p.(=)" "2i"
"0000245371" "00003265" "90" "34" "0" "34" "0" "c.34G>A" "r.(?)" "p.(Ala12Thr)" "2"
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 6
"{{screeningid}}" "{{variantid}}"
"0000152237" "0000245365"
"0000152237" "0000245366"
"0000152237" "0000245367"
"0000152237" "0000245368"
"0000152237" "0000245370"
"0000152238" "0000245369"