### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PANK2) # 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}}" "{{allow_index_wiki}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{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}}" "{{iNote}}" "PANK2" "pantothenate kinase 2" "20" "p13" "unknown" "NC_000020.10" "UD_138394127589" "" "" "" "1" "1" "15894" "80025" "606157" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" " ; NuclearMitome http://www.transgenomic.com ; MitoPhenome http://mitophenome.org ; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/ " "MSeqDR-LSDB: Mitochondrial Disease LSDB" "-1" "Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium" "-1" "00001" "2013-11-12 21:46:20" "" "" "" "" "The gene panel from GenDX, MitoPhenome, and NuclearMitome, and MitoCarta, plus all genes on chromosome M" ## 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}}" "{{iNote}}" "{{chrom}}" "00003255" "PANK2" "transcript variant 3" "002" "NM_024960.4" "" "NP_079236.3" "" "" "" "-311" "1401" "840" "3869486" "3904502" "00000" "2014-04-18 19:00:06" "" "" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 0 ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 0 ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Phenotypes ## Do not remove or alter this header ## ## Count = 0 ## Screenings ## Do not remove or alter this header ## ## Count = 0 ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 8 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{mapping_flags}}" "{{average_frequency}}" "{{owned_by}}" "{{statusid}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{iNote}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/Type}}" "{{Duplicate_Variant}}" "{{VariantOnGenome/Sources}}" "{{VariantOnGenome/Conservation_score/GERP}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/MSCV}}" "{{VariantOnGenome/Variant_disease}}" "0000002945" "0" "99" "20" "3870280" "3870280" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 12:02:38" "PANK2_000008" "g.3870280C>A" "" "{PMID:16240131:16240131}" "" "rs137852969" "subst" "0" "; clinvar;" "1.850" "" "" "" "" "MSCV_0002945" "" "0000002946" "0" "99" "20" "3870317" "3870317" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:51:10" "PANK2_000001" "g.3870317C>G" "" "{PMID:11479594:11479594}" "" "rs137852960" "subst" "0" "; clinvar;" "2.610" "" "" "" "" "MSCV_0002946" "" "0000002947" "0" "99" "20" "3888734" "3888734" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2021-06-03 01:17:14" "PANK2_000002" "g.3888734C>T" "" "{PMID:11479594:11479594}" "" "rs137852961" "subst" "0" "; clinvar;" "3.660" "" "" "" "" "MSCV_0002947" "" "0000002948" "0" "99" "20" "3888800" "3888800" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2015-04-20 20:26:05" "PANK2_000003" "g.3888800C>T" "" "{PMID:11479594:11479594}" "" "rs137852962" "subst" "0" "; clinvar;" "3.660" "" "" "" "" "MSCV_0002948" "" "0000002949" "0" "99" "20" "3893281" "3893281" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:51:11" "PANK2_000004" "g.3893281G>A" "" "{PMID:11479594:11479594}" "" "rs137852963" "subst" "0" "; clinvar;" "4.930" "" "" "" "" "MSCV_0002949" "" "0000002950" "0" "99" "20" "3899342" "3899342" "subst" "35" "0.000153775" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:51:12" "PANK2_000005" "g.3899342G>A" "" "{PMID:11479594:11479594}" "" "rs137852959" "subst" "0" "; clinvar;" "5.120" "" "" "" "" "MSCV_0002950" "" "0000002951" "0" "99" "20" "3899364" "3899364" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2018-11-12 05:23:28" "PANK2_000006" "g.3899364C>T" "" "{PMID:11479594:11479594};{PMID:12510040:12510040}" "" "rs137852967" "subst" "0" "; clinvar;" "3.160" "" "" "" "" "MSCV_0002951" "" "0000002952" "0" "55" "20" "3903937" "3903937" "subst" "35" "0.0000768876" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:51:14" "PANK2_000007" "g.3903937C>T" "" "" "" "rs41279408" "subst" "0" ";" "5.050" "" "" "" "" "MSCV_0002952" "" ## 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. ## Count = 8 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/Exon}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/PolyPhen}}" "{{VariantOnTranscript/Position}}" "{{VariantOnTranscript/GVS/Function}}" "{{VariantOnTranscript/Distance_to_splice_site}}" "{{VariantOnTranscript/Location}}" "{{VariantOnTranscript/SIFT}}" "0000002945" "00003255" "99" "-246" "729" "-246" "729" "c.-246+729C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000002946" "00003255" "99" "-246" "766" "-246" "766" "c.-246+766C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000002947" "00003255" "99" "-84" "0" "-84" "0" "c.-84C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000002948" "00003255" "99" "-18" "0" "-18" "0" "c.-18C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000002949" "00003255" "99" "539" "0" "539" "0" "c.539G>A" "4/7" "p.(Ser180Asn)" "r.(?)" "probably_damaging(0.952)" "" "missense_variant,splice_region_variant" "" "" "deleterious(0)" "0000002950" "00003255" "99" "688" "0" "688" "0" "c.688G>A" "6/7" "p.(Gly230Arg)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000002951" "00003255" "99" "710" "0" "710" "0" "c.710C>T" "6/7" "p.(Thr237Met)" "r.(?)" "benign(0.323)" "" "missense_variant" "" "" "tolerated(0.28)" "0000002952" "00003255" "55" "836" "0" "836" "0" "c.836C>T" "7/7" "p.(Pro279Leu)" "r.(?)" "benign(0.368)" "" "missense_variant" "" "" "deleterious(0)" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0