### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = AMY1C)
# 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}}"
"AMY1C" "amylase, alpha 1C (salivary)" "1" "p21" "unknown" "NC_000001.10" "UD_136085534434" "" "http://www.LOVD.nl/AMY1C" "" "1" "476" "278" "104702" "1" "1" "1" "1" "All amylase gene CNV haplotypes are linked to the AMY2B gene. Haplotypes are described based on the total number of AMY1, AMY2A and AMY2B genes resp., like AMY-3-1-1 (hg19 reference haplotype).\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "" "" "1" "" "All AMY gene CNV haplotypes have been linked to the AMY2B gene." "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-11-13 16:24:29" "00000" "2020-06-04 18:35:37"
## 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}}"
"00002450" "AMY1C" "amylase, alpha 1C (salivary)" "001" "NM_001008219.1" "" "NP_001008220.1" "" "" "" "-294" "1566" "1536" "104292441" "104301310" "" "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 = 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}}"
"00087115" "" "" "" "1" "" "00006" "{PMID:Carpenter 2015:25788522}, {DOI:Carpenter 2015:10.1093/hmg/ddv098}" "" "" "" "Japan" "" "0" "" "" "" ""
"00087116" "" "" "" "1" "" "00006" "{PMID:Carpenter 2015:25788522}, {DOI:Carpenter 2015:10.1093/hmg/ddv098}" "" "" "" "" "" "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 = 2
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000087253" "00087115" "1" "00006" "00006" "2016-11-12 20:11:02" "00006" "2016-11-12 20:38:39" "FISHf;PCR;SEQ-NG" "DNA" "" ""
"0000087254" "00087116" "1" "00006" "00006" "2016-11-12 20:28:11" "" "" "FISHf;PCR;SEQ-NG" "DNA" "" ""
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 10
"{{screeningid}}" "{{geneid}}"
"0000087253" "AMY1A"
"0000087253" "AMY1B"
"0000087253" "AMY1C"
"0000087253" "AMY2A"
"0000087253" "AMY2B"
"0000087254" "AMY1A"
"0000087254" "AMY1B"
"0000087254" "AMY1C"
"0000087254" "AMY2A"
"0000087254" "AMY2B"
## 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 = 3
"{{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}}"
"0000140410" "1" "50" "1" "104162309" "104256477" "dup" "0" "00006" "AMY2B_011122" "g.104162309_104256477dup" "" "{PMID:Carpenter 2015:25788522}, {DOI:Carpenter 2015:10.1093/hmg/ddv098}" "" "" "haplotype with duplicated copy AMY1A-AMY1B region, named H2 by Groot 1990 and AH5 by Usher et al" "Germline" "" "" "0" "" "" "g.103619687_103713855dup" "" "VUS" ""
"0000140411" "2" "70" "1" "104161939" "104256107" "" "0" "00006" "AMY2B_011166" "g.104161939_104256107[6]" "" "{PMID:Carpenter 2015:25788522}, {DOI:Carpenter 2015:10.1093/hmg/ddv098}" "" "" "haplotype with 6 copies of AMY1A-AMY1B region and 13 copies of AMY1" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000140413" "2" "50" "1" "104161939" "104256107" "" "0" "00006" "AMY2B_011133" "g.104161939_104256107[3]" "" "{PMID:Carpenter 2015:25788522}, {DOI:Carpenter 2015:10.1093/hmg/ddv098}" "" "" "haplotype with 3 copies of AMY1A-AMY1B region and 7 copies of AMY1" "Germline" "" "" "0" "" "" "" "" "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 AMY1C
## Count = 3
"{{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}}" "{{VariantOnTranscript/Haplotype}}"
"0000140410" "00002450" "10" "0" "0" "0" "0" "c.=" "r.=" "p.=" "_1_11_" ""
"0000140411" "00002450" "10" "0" "0" "0" "0" "c.=" "r.=" "p.=" "_1_11_" ""
"0000140413" "00002450" "10" "0" "0" "0" "0" "c.=" "r.=" "p.=" "_1_11_" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 3
"{{screeningid}}" "{{variantid}}"
"0000087253" "0000140410"
"0000087253" "0000140411"
"0000087254" "0000140413"