### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ATP6V0A1) # 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}}" "ATP6V0A1" "ATPase, H+ transporting, lysosomal V0 subunit a1" "17" "q21" "unknown" "NG_047037.1" "UD_132378613702" "" "https://www.LOVD.nl/ATP6V0A1" "" "1" "865" "535" "192130" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/ATP6V0A1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-05-18 09:03:11" "00000" "2026-01-20 18:57:21" ## 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}}" "00003114" "ATP6V0A1" "transcript variant 1" "001" "NM_001130020.1" "" "NP_001123492.1" "" "" "" "-167" "3976" "2517" "40610862" "40674597" "" "0000-00-00 00:00:00" "" "" ## 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 = 23 "{{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}}" "0000561489" "0" "50" "17" "40666468" "40666468" "subst" "0" "02329" "ATP6V0A1_000001" "g.40666468C>T" "" "" "" "ATP6V0A1(NM_001130020.1):c.2413C>T (p.R805C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42514450C>T" "" "VUS" "" "0000982491" "0" "50" "17" "40630503" "40630503" "subst" "2.86695E-5" "01804" "ATP6V0A1_000004" "g.40630503C>T" "" "" "" "ATP6V0A1(NM_001130021.3):c.529C>T (p.(Arg177Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982492" "0" "50" "17" "40630997" "40630997" "subst" "0" "01804" "ATP6V0A1_000005" "g.40630997C>T" "" "" "" "ATP6V0A1(NM_001378530.1):c.686C>T (p.(Ser229Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982493" "0" "30" "17" "40631048" "40631048" "subst" "0" "01804" "ATP6V0A1_000006" "g.40631048C>T" "" "" "" "ATP6V0A1(NM_001378530.1):c.737C>T (p.(Pro246Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982494" "0" "30" "17" "40654855" "40654855" "subst" "0" "01804" "ATP6V0A1_000007" "g.40654855A>G" "" "" "" "ATP6V0A1(NM_001378530.1):c.2171A>G (p.(Gln724Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982495" "0" "30" "17" "40654876" "40654876" "subst" "0" "01804" "ATP6V0A1_000008" "g.40654876C>T" "" "" "" "ATP6V0A1(NM_001378530.1):c.2192C>T (p.(Ala731Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003226" "0" "30" "17" "40639168" "40639168" "subst" "5.28713E-5" "02325" "ATP6V0A1_000009" "g.40639168C>A" "" "" "" "ATP6V0A1(NM_001130020.3):c.832-5C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003227" "0" "50" "17" "40646370" "40646370" "subst" "8.12632E-6" "01804" "ATP6V0A1_000010" "g.40646370C>T" "" "" "" "ATP6V0A1(NM_001130021.1):c.1193C>T (p.(Thr398Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003228" "0" "50" "17" "40665900" "40665900" "subst" "2.03072E-5" "01804" "ATP6V0A1_000011" "g.40665900G>A" "" "" "" "ATP6V0A1(NM_001130021.1):c.2152G>A (p.(Val718Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015529" "0" "50" "17" "40630534" "40630534" "subst" "0" "02325" "ATP6V0A1_000012" "g.40630534T>C" "" "" "" "ATP6V0A1(NM_001130020.3):c.581T>C (p.L194P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015530" "0" "50" "17" "40635094" "40635094" "subst" "8.5806E-6" "02325" "ATP6V0A1_000013" "g.40635094A>G" "" "" "" "ATP6V0A1(NM_001130020.3):c.776A>G (p.Q259R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041840" "0" "70" "17" "40618525" "40618525" "subst" "0" "01804" "ATP6V0A1_000014" "g.40618525C>T" "" "" "" "ATP6V0A1(NM_001130021.3):c.196C>T (p.(Arg66*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001041841" "0" "30" "17" "40642658" "40642658" "subst" "5.31473E-5" "01804" "ATP6V0A1_000015" "g.40642658A>G" "" "" "" "ATP6V0A1(NM_001130021.3):c.1174+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041842" "0" "50" "17" "40652819" "40652819" "subst" "0.000194941" "01804" "ATP6V0A1_000016" "g.40652819T>C" "" "" "" "ATP6V0A1(NM_001130021.3):c.1774T>C (p.(Tyr592His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041843" "0" "30" "17" "40654834" "40654843" "del" "0" "01804" "ATP6V0A1_000017" "g.40654834_40654843del" "" "" "" "ATP6V0A1(NM_001378530.1):c.2150_2159del (p.(Pro717GlnfsTer8))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041844" "0" "30" "17" "40654846" "40654846" "subst" "0" "01804" "ATP6V0A1_000018" "g.40654846A>C" "" "" "" "ATP6V0A1(NM_001378530.1):c.2162A>C (p.(Asn721Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001056002" "0" "30" "17" "40630979" "40630979" "subst" "0" "01804" "ATP6V0A1_000019" "g.40630979A>G" "" "" "" "ATP6V0A1(NM_001378530.1):c.668A>G (p.(Gln223Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001056003" "0" "50" "17" "40631000" "40631000" "subst" "0" "01804" "ATP6V0A1_000020" "g.40631000C>T" "" "" "" "ATP6V0A1(NM_001378530.1):c.689C>T (p.(Pro230Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056004" "0" "50" "17" "40639347" "40639347" "subst" "1.62512E-5" "01804" "ATP6V0A1_000021" "g.40639347G>A" "" "" "" "ATP6V0A1(NM_001130021.3):c.985G>A (p.(Asp329Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056005" "0" "50" "17" "40651046" "40651046" "subst" "4.4706E-5" "01804" "ATP6V0A1_000022" "g.40651046T>G" "" "" "" "ATP6V0A1(NM_001130021.3):c.1665T>G (p.(Ser555Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056006" "0" "30" "17" "40652829" "40652829" "subst" "0.000312721" "01804" "ATP6V0A1_000023" "g.40652829C>T" "" "" "" "ATP6V0A1(NM_001130021.3):c.1784C>T (p.(Thr595Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001066737" "0" "50" "17" "40639296" "40639296" "subst" "0" "02325" "ATP6V0A1_000024" "g.40639296A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001066738" "0" "70" "17" "40666468" "40666468" "subst" "0" "02325" "ATP6V0A1_000001" "g.40666468C>T" "" "" "" "ATP6V0A1(NM_001130020.1):c.2413C>T (p.R805C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" ## 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 ATP6V0A1 ## Count = 23 "{{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}}" "0000561489" "00003114" "50" "2413" "0" "2413" "0" "c.2413C>T" "r.(?)" "p.(Arg805Cys)" "" "0000982491" "00003114" "50" "550" "0" "550" "0" "c.550C>T" "r.(?)" "p.(Arg184Trp)" "" "0000982492" "00003114" "50" "654" "390" "654" "390" "c.654+390C>T" "r.(=)" "p.(=)" "" "0000982493" "00003114" "30" "654" "441" "654" "441" "c.654+441C>T" "r.(=)" "p.(=)" "" "0000982494" "00003114" "30" "2025" "1533" "2025" "1533" "c.2025+1533A>G" "r.(=)" "p.(=)" "" "0000982495" "00003114" "30" "2025" "1554" "2025" "1554" "c.2025+1554C>T" "r.(=)" "p.(=)" "" "0001003226" "00003114" "30" "832" "-5" "832" "-5" "c.832-5C>A" "r.spl?" "p.?" "" "0001003227" "00003114" "50" "1214" "0" "1214" "0" "c.1214C>T" "r.(?)" "p.(Thr405Met)" "" "0001003228" "00003114" "50" "2155" "0" "2155" "0" "c.2155G>A" "r.(?)" "p.(Val719Ile)" "" "0001015529" "00003114" "50" "581" "0" "581" "0" "c.581T>C" "r.(?)" "p.(Leu194Pro)" "" "0001015530" "00003114" "50" "776" "0" "776" "0" "c.776A>G" "r.(?)" "p.(Gln259Arg)" "" "0001041840" "00003114" "70" "196" "0" "196" "0" "c.196C>T" "r.(?)" "p.(Arg66*)" "" "0001041841" "00003114" "30" "1195" "3" "1195" "3" "c.1195+3A>G" "r.spl?" "p.?" "" "0001041842" "00003114" "50" "1795" "0" "1795" "0" "c.1795T>C" "r.(?)" "p.(Tyr599His)" "" "0001041843" "00003114" "30" "2025" "1512" "2025" "1521" "c.2025+1512_2025+1521del" "r.(=)" "p.(=)" "" "0001041844" "00003114" "30" "2025" "1524" "2025" "1524" "c.2025+1524A>C" "r.(=)" "p.(=)" "" "0001056002" "00003114" "30" "654" "372" "654" "372" "c.654+372A>G" "r.(=)" "p.(=)" "" "0001056003" "00003114" "50" "654" "393" "654" "393" "c.654+393C>T" "r.(=)" "p.(=)" "" "0001056004" "00003114" "50" "1006" "0" "1006" "0" "c.1006G>A" "r.(?)" "p.(Asp336Asn)" "" "0001056005" "00003114" "50" "1686" "0" "1686" "0" "c.1686T>G" "r.(?)" "p.(Ser562Arg)" "" "0001056006" "00003114" "30" "1805" "0" "1805" "0" "c.1805C>T" "r.(?)" "p.(Thr602Met)" "" "0001066737" "00003114" "50" "955" "0" "955" "0" "c.955A>G" "r.(?)" "p.(Ile319Val)" "" "0001066738" "00003114" "70" "2413" "0" "2413" "0" "c.2413C>T" "r.(?)" "p.(Arg805Cys)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0