### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = SMCR7L)
# 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}}"
"SMCR7L" "Smith-Magenis syndrome chromosome region, candidate 7-like" "22" "q13.1" "unknown" "NC_000022.10" "UD_136091803319" "" "https://www.LOVD.nl/MIEF1" "" "1" "25979" "54471" "615497" "1" "1" "1" "1" "NOTE: gene name changed from SMCR7L to MIEF1\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "NOTE: gene name changed from SMCR7L to MIEF1" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-09-18 12:19:40" "00000" "2024-08-28 13:16:32"
## 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}}"
"00019441" "SMCR7L" "Smith-Magenis syndrome chromosome region, candidate 7-like" "001" "NM_019008.4" "" "NP_061881.2" "" "" "" "-498" "5201" "1392" "39898284" "39914137" "" "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 = 4
"{{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}}"
"0000329020" "0" "30" "22" "39909600" "39909600" "subst" "0.00262322" "01804" "SMCR7L_000002" "g.39909600G>A" "" "" "" "MIEF1(NM_019008.4):c.664G>A (p.(Asp222Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39513595G>A" "" "likely benign" ""
"0000329021" "0" "30" "22" "39909726" "39909726" "subst" "0.00599639" "01804" "SMCR7L_000003" "g.39909726G>A" "" "" "" "MIEF1(NM_019008.4):c.790G>A (p.(Asp264Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39513721G>A" "" "likely benign" ""
"0000329022" "0" "30" "22" "39918522" "39918522" "subst" "0.00179063" "01804" "ATF4_000001" "g.39918522C>T" "" "" "" "ATF4(NM_001675.2):c.971C>T (p.(Ala324Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39522517C>T" "" "likely benign" ""
"0001006072" "0" "50" "22" "39911230" "39911233" "dup" "0" "01804" "SMCR7L_000004" "g.39911230_39911233dup" "" "" "" "MIEF1(NM_019008.4):c.*902_*905dupATCA (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "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 SMCR7L
## Count = 4
"{{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}}"
"0000329020" "00019441" "30" "664" "0" "664" "0" "c.664G>A" "r.(?)" "p.(Asp222Asn)" ""
"0000329021" "00019441" "30" "790" "0" "790" "0" "c.790G>A" "r.(?)" "p.(Asp264Asn)" ""
"0000329022" "00019441" "30" "9586" "0" "9586" "0" "c.*8194C>T" "r.(=)" "p.(=)" ""
"0001006072" "00019441" "50" "2294" "0" "2297" "0" "c.*902_*905dup" "r.(=)" "p.(=)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 0