### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = FAM71C)
# 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}}"
"FAM71C" "family with sequence similarity 71, member C" "12" "q23.1" "unknown" "NC_000012.11" "UD_136086903650" "" "https://www.LOVD.nl/GARIN6" "" "1" "28594" "196472" "0" "1" "1" "1" "1" "NOTE: gene name changed from FAM71C to GARIN6\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "NOTE: gene name changed from FAM71C to GARIN6" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-02-28 14:09:34" "00000" "2025-05-05 21:14:00"
## 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}}"
"00007461" "FAM71C" "family with sequence similarity 71, member C" "001" "NM_153364.3" "" "NP_699195.1" "" "" "" "-425" "1442" "726" "100041528" "100043892" "" "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 = 15
"{{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}}"
"0000614454" "0" "50" "12" "99145262" "99145263" "del" "0" "02327" "ANKS1B_000002" "g.99145262_99145263del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98751484_98751485del" "" "VUS" ""
"0000691452" "0" "50" "12" "99640054" "99640054" "subst" "0" "02325" "ANKS1B_000003" "g.99640054T>C" "" "" "" "ANKS1B(NM_152788.4):c.2345A>G (p.E782G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000890851" "0" "50" "12" "99640206" "99640206" "subst" "2.03336E-5" "02325" "ANKS1B_000004" "g.99640206C>A" "" "" "" "ANKS1B(NM_152788.4):c.2193G>T (p.L731F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000913727" "0" "50" "12" "100219150" "100219150" "subst" "5.38387E-5" "02325" "ANKS1B_000005" "g.100219150T>C" "" "" "" "ANKS1B(NM_152788.4):c.152A>G (p.N51S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000949818" "0" "50" "12" "100166786" "100166786" "subst" "4.49387E-5" "02325" "ANKS1B_000006" "g.100166786A>C" "" "" "" "ANKS1B(NM_152788.4):c.1042T>G (p.L348V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000980521" "0" "50" "12" "99192770" "99192770" "subst" "0" "01804" "ANKS1B_000007" "g.99192770A>C" "" "" "" "ANKS1B(NM_001352211.2):c.2T>G (p.(Met1?))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000980522" "0" "30" "12" "99194909" "99194909" "subst" "0" "02325" "ANKS1B_000008" "g.99194909A>G" "" "" "" "ANKS1B(NM_152788.4):c.3067-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001000376" "0" "30" "12" "99139626" "99139626" "subst" "0" "01804" "ANKS1B_000009" "g.99139626T>G" "" "" "" "ANKS1B(NM_001204066.1):c.967-2A>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001000377" "0" "50" "12" "99194839" "99194839" "subst" "2.04586E-5" "01804" "ANKS1B_000010" "g.99194839G>A" "" "" "" "ANKS1B(NM_152788.4):c.3131C>T (p.(Pro1044Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001000378" "0" "50" "12" "99225844" "99225844" "subst" "0" "01804" "ANKS1B_000011" "g.99225844T>G" "" "" "" "ANKS1B(NM_152788.4):c.2849A>C (p.(Asp950Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001000381" "0" "30" "12" "99548098" "99548098" "subst" "8.14876E-6" "01804" "ANKS1B_000012" "g.99548098A>C" "" "" "" "ANKS1B(NM_001204066.1):c.2T>G (p.(Met1?))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001000382" "0" "30" "12" "99640442" "99640442" "subst" "1.62676E-5" "01804" "ANKS1B_000013" "g.99640442T>C" "" "" "" "ANKS1B(NM_152788.4):c.1957A>G (p.(Ile653Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001000383" "0" "50" "12" "99898250" "99898250" "subst" "0" "01804" "ANKS1B_000014" "g.99898250T>C" "" "" "" "ANKS1B(NM_152788.4):c.1438+4A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001014888" "0" "30" "12" "100200263" "100200263" "subst" "0.000117962" "02325" "ANKS1B_000015" "g.100200263C>T" "" "" "" "ANKS1B(NM_152788.4):c.588G>A (p.T196=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001039536" "0" "30" "12" "99548233" "99548233" "subst" "4.07239E-6" "01804" "ANKS1B_000016" "g.99548233C>T" "" "" "" "ANKS1B(NM_001204068.2):c.38G>A (p.(Arg13His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
## 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 FAM71C
## Count = 15
"{{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}}"
"0000614454" "00007461" "50" "-896691" "0" "-896690" "0" "c.-896691_-896690del" "r.(?)" "p.(=)" ""
"0000691452" "00007461" "50" "-401899" "0" "-401899" "0" "c.-401899T>C" "r.(?)" "p.(=)" ""
"0000890851" "00007461" "50" "-401747" "0" "-401747" "0" "c.-401747C>A" "r.(?)" "p.(=)" ""
"0000913727" "00007461" "50" "176700" "0" "176700" "0" "c.*175974T>C" "r.(=)" "p.(=)" ""
"0000949818" "00007461" "50" "124336" "0" "124336" "0" "c.*123610A>C" "r.(=)" "p.(=)" ""
"0000980521" "00007461" "50" "-849183" "0" "-849183" "0" "c.-849183A>C" "r.(?)" "p.(=)" ""
"0000980522" "00007461" "30" "-847044" "0" "-847044" "0" "c.-847044A>G" "r.(?)" "p.(=)" ""
"0001000376" "00007461" "30" "-902327" "0" "-902327" "0" "c.-902327T>G" "r.(?)" "p.(=)" ""
"0001000377" "00007461" "50" "-847114" "0" "-847114" "0" "c.-847114G>A" "r.(?)" "p.(=)" ""
"0001000378" "00007461" "50" "-816109" "0" "-816109" "0" "c.-816109T>G" "r.(?)" "p.(=)" ""
"0001000381" "00007461" "30" "-493855" "0" "-493855" "0" "c.-493855A>C" "r.(?)" "p.(=)" ""
"0001000382" "00007461" "30" "-401511" "0" "-401511" "0" "c.-401511T>C" "r.(?)" "p.(=)" ""
"0001000383" "00007461" "50" "-143703" "0" "-143703" "0" "c.-143703T>C" "r.(?)" "p.(=)" ""
"0001014888" "00007461" "30" "157813" "0" "157813" "0" "c.*157087C>T" "r.(=)" "p.(=)" ""
"0001039536" "00007461" "30" "-493720" "0" "-493720" "0" "c.-493720C>T" "r.(?)" "p.(=)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 0