Full data view for gene LARP7

Information The variants shown are described using the NM_016648.2 transcript reference sequence.

27 entries on 1 page. Showing entries 1 - 27.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

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Remarks     

Gender     

Consanguinity     

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Age at death     

VIP     

Data_av     

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Panel size     

Owner     
-?/. - c.65_67del r.(?) p.(Glu22del) Unknown - likely benign g.113565890_113565892del g.112644734_112644736del LARP7(NM_001267039.4):c.65_67delAAG (p.E22del) - LARP7_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.320C>T r.(?) p.(Thr107Ile) Unknown - likely benign g.113567760C>T g.112646604C>T LARP7(NM_001267039.1):c.341C>T (p.T114I) - LARP7_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.647-8T>C r.(=) p.(=) Unknown - likely benign g.113568347T>C - LARP7(NM_001267039.1):c.668-8T>C - LARP7_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.651G>C r.(?) p.(Glu217Asp) Unknown - likely benign g.113568359G>C g.112647203G>C LARP7(NM_001267039.4):c.651G>C (p.E217D) - LARP7_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.680G>A r.(?) p.(Arg227Gln) Unknown - VUS g.113568388G>A g.112647232G>A LARP7(NM_001267039.4):c.680G>A (p.R227Q) - LARP7_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.697_698del r.(?) p.(Asn233Tyrfs*17) Unknown - pathogenic g.113568405_113568406del - - - LARP7_000006 - - - - Unknown - - - - - DNA SEQ - - ? - - - F - - - - - - - 1 IMGAG
?/. - c.715_717del r.(?) p.(Glu239del) Unknown - VUS g.113568423_113568425del g.112647267_112647269del LARP7(NM_001267039.1):c.731_733del (p.(Glu246del)), LARP7(NM_001267039.1):c.736_738delGAA (p.E246del) - C4orf21_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.715_717del r.(?) p.(Glu239del) Unknown - VUS g.113568423_113568425del g.112647267_112647269del LARP7(NM_001267039.1):c.731_733del (p.(Glu246del)), LARP7(NM_001267039.1):c.736_738delGAA (p.E246del) - C4orf21_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.770C>A r.(?) p.(Thr257Lys) Unknown - likely benign g.113568478C>A g.112647322C>A LARP7(NM_001267039.1):c.791C>A (p.T264K) - LARP7_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.782_783del r.(?) p.(Ser261Ter) Unknown - pathogenic g.113568490_113568491del g.112647334_112647335del LARP7(NM_001267039.4):c.782_783delCT (p.S261*) - LARP7_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.832A>T r.(?) p.(Lys278*) Both (homozygous) - pathogenic g.113568540A>T g.112647384A>T NM_016648: c.A832T; p.K278X - LARP7_000002 - PubMed: Karaca 2015 - - Germline - - - - - DNA SEQ-NG-I - WES ? 26539891-FamBAB5283 PubMed: Karaca 2015 - - - - - - - family structure in paper - 2 Johan den Dunnen
?/. - c.842_852del r.(?) p.(Arg281IlefsTer2) Unknown - VUS g.113568550_113568560del g.112647394_112647404del LARP7(NM_001267039.1):c.863_873delGAGTTGAAGCA (p.R288Ifs*2) - C4orf21_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.919G>A r.(?) p.(Ala307Thr) Unknown - VUS g.113568627G>A g.112647471G>A LARP7(NM_001267039.1):c.940G>A (p.(Ala314Thr)) - LARP7_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.925C>T r.(?) p.(Arg309Ter) Unknown - pathogenic g.113568633C>T g.112647477C>T LARP7(NM_001267039.1):c.946C>T (p.R316*) - C4orf21_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.978A>T r.(?) p.(Glu326Asp) Unknown - likely benign g.113568686A>T g.112647530A>T LARP7(NM_001267039.1):c.999A>T (p.E333D) - LARP7_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.998-1G>A r.spl? p.? Unknown - VUS g.113568845G>A - LARP7(NM_001267039.1):c.1019-1G>A - C4orf21_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1001T>C r.(?) p.(Ile334Thr) Unknown - likely benign g.113568849T>C g.112647693T>C LARP7(NM_001267039.1):c.1022T>C (p.I341T) - C4orf21_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1013C>T r.(?) p.(Thr338Ile) Unknown - likely benign g.113568861C>T g.112647705C>T LARP7(NM_001267039.1):c.1034C>T (p.T345I) - C4orf21_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 8 c.1024_1030dup r.1024_1030dup p.Thr344Lysfs*9 Both (homozygous) - pathogenic g.113568872_113568878dup g.112647716_112647722dup 1024_1030dupAAGGATA - LARP7_000001 - - - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - SPD - - - ? ? Saudi Arabia - - - - - 1 Anas M Alazami
+/. - c.1024_1030dup r.(?) p.(Thr344Lysfs*9) Both (homozygous) ACMG pathogenic g.113568872_113568878dup g.112647716_112647722dup - - LARP7_000001 - PubMed: Trujillano 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - ALAZS - PubMed: Trujillano 2017 unaffected parents - - - - - - - - 1 Daniel Trujillano
+/. - c.1068_1069del r.(?) p.(Arg357GlufsTer3) Unknown - pathogenic g.113568916_113568917del g.112647760_112647761del LARP7(NM_001267039.4):c.1068_1069delAA (p.R357Efs*3) - C4orf21_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1091_1094del r.(?) p.(Lys364Argfs*12) Unknown - likely pathogenic g.113568938_113568941del - - - LARP7_000007 - - - - Unknown - - - - - DNA SEQ - - ? - - - F - - - - - - - 1 IMGAG
+?/. - c.1092_1094del r.(?) p.(Glu365del) Both (homozygous) - likely pathogenic (recessive) g.113568940_113568942del g.112647784_112647786del - - LARP7_000003 - - - rs566464249 Germline yes - - - - DNA SEQ-NG - - ? 1283 - - M yes Italy - 11y - - - 1 Pietro Palumbo
+/. - c.1173T>A r.(?) p.(Tyr391Ter) Unknown - pathogenic g.113570721T>A g.112649565T>A - - C4orf21_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1468G>A r.(?) p.(Asp490Asn) Unknown - VUS g.113574284G>A - LARP7(NM_001267039.1):c.1489G>A (p.D497N) - C4orf21_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1576+17G>A r.(=) p.(=) Unknown - likely benign g.113574409G>A g.112653253G>A LARP7(NM_001267039.4):c.1576+17G>A - LARP7_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1689+1G>C r.spl p.? Both (homozygous) ACMG pathogenic (recessive) g.113575316G>C g.112654160G>C NM_001267039:c.1689+1G>C - LARP7_000015 - PubMed: Hu 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - ID M8600217 PubMed: Hu 2019 family, 2 affected individuals, first cousin parents - yes Iran Persia - - - - 2 Johan den Dunnen
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