Full data view for gene ATXN2L

Information The variants shown are described using the NM_007245.3 transcript reference sequence.

13 entries on 1 page. Showing entries 1 - 13.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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VIP     

Methylation     

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Technique     

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Remarks     

Disease     

ID_report     

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Panel size     

Owner     
./. - c.-7304374_*484659del r.0? p.0? Unknown - pathogenic g.21530207_29332245del g.21518886_29320924del - - CLN3_000009 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
./. - c.-1651430_*3041098dup - - Unknown - pathogenic g.27183151_31888684dup g.27171830_31877363dup - - CLN3_000010 mosaicism, copy number 3 in 0.33 cells PubMed: DDDS 2015, Journal: DDDS 2015 - - Somatic - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected sibling(s) M - United Kingdom (Great Britain) - - - Decipher - 2 Johan den Dunnen
+?/. - c.-734580_*5752414del r.0? p.0? Unknown - likely pathogenic g.28100001_34600000del g.28500001_35300000del CGH array, microdeletion in 16p11.2 - CRYM_000000 zygosity not written; probable breakpoints; pathogenic in literature; genes ANKS4B,CRYM,NPIPB3,SMG1P3,RRN3P3,MIR3680-1,MIR3680-2,SLC7A5P2,LOC101927814,METTL9,IGSF6,OTOA,OTOAP1,RRN3P1,NPIPB4,NPIPB5,UQCRC2,PDZD9,MOSMO,VWA3A,EEF2K,POLR3E,CDR2,MFSD13B,HS3ST2,USP31,SCNN1G,SCNN1B,COG7,GGA2,EARS2,UBFD1,NDUFAB1,PALB2,DCTN5,PLK1,ERN2,CHP2 PubMed: Ruberto 2020 - - Unknown ? - - - - DNA arrayCGH - targeted sequencing with 1 of 4 panels of OFTALMOgenics probes retinal disease 3 PubMed: Ruberto 2020 - ? - Italy - - - - - 1 LOVD
-?/. - c.710A>G r.(?) p.(Asn237Ser) Unknown - likely benign g.28838276A>G - ATXN2L(NM_007245.3):c.710A>G (p.N237S) - ATXN2L_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.923A>G r.(?) p.(Gln308Arg) Unknown - VUS g.28841268A>G - ATXN2L(NM_007245.3):c.923A>G (p.Q308R) - ATXN2L_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.925T>G r.(?) p.(Tyr309Asp) Unknown - VUS g.28841270T>G - ATXN2L(NM_148416.3):c.925T>G (p.Y309D) - ATXN2L_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1322-18C>T r.(=) p.(=) Unknown - VUS g.28843508C>T - ATXN2L(NM_148416.3):c.1322-18C>T - ATXN2L_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1685A>G r.(?) p.(Asn562Ser) Unknown - likely benign g.28844405A>G - ATXN2L(NM_007245.3):c.1685A>G (p.(Asn562Ser)) - ATXN2L_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2288C>T r.(?) p.(Ser763Leu) Unknown - VUS g.28845869C>T - ATXN2L(NM_148416.3):c.2288C>T (p.S763L) - ATXN2L_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2311G>A r.(?) p.(Ala771Thr) Unknown - likely benign g.28845892G>A - ATXN2L(NM_148416.3):c.2311G>A (p.A771T) - ATXN2L_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2563+7C>T r.(=) p.(=) Unknown - likely benign g.28846515C>T - ATXN2L(NM_007245.4):c.2563+7C>T - ATXN2L_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2946_2947insG r.(?) p.(Pro983AlafsTer48) Unknown - likely benign g.28847304_28847305insG g.28835983_28835984insG ATXN2L(NM_007245.3):c.2946_2947insG (p.(Pro983AlafsTer48)) - ATXN2L_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2955G>C r.(?) p.(Pro985=) Unknown - likely benign g.28847313G>C g.28835992G>C ATXN2L(NM_007245.3):c.2955G>C (p.P985=) - ATXN2L_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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