Full data view for gene DNAI1

Information The variants shown are described using the NM_012144.3 transcript reference sequence.

54 entries on 1 page. Showing entries 1 - 54.
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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     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

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Panel size     

Owner     
+?/. 1_1i c.-134_48+35del r.0? p.0? Both (homozygous) - likely pathogenic g.34458870_34459086del g.34458872_34459088del -134_48+35del217 - DNAI1_000011 - - - - Germline - - - - - DNA SEQ-NG - - CILD 17GM00024 - - - - - Tunisian - - - - 1 Rahma MANI
-/. - c.22G>T r.(?) p.(Ala8Ser) Unknown - benign g.34459025G>T g.34459027G>T DNAI1(NM_012144.3):c.22G>T (p.A8S) - DNAI1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.40C>T r.(?) p.(His14Tyr) Unknown - likely benign g.34459043C>T g.34459045C>T - - DNAI1_000035 - PubMed: Alsamri 2021 - rs146501326 Germline - - - - - DNA SEQ-NG - 28-gene panel PCD CILD - PubMed: Alsamri 2021 analysis 66 patients with significant clinical respiratory problems - - United Arab Emirates - - - - - 1 Johan den Dunnen
-?/. - c.47A>G r.(?) p.(Gln16Arg) Unknown - likely benign g.34459050A>G g.34459052A>G - - DNAI1_000036 - PubMed: Alsamri 2021 - rs148701985 Germline - - - - - DNA SEQ-NG - 28-gene panel PCD CILD - PubMed: Alsamri 2021 analysis 66 patients with significant clinical respiratory problems - - United Arab Emirates - - - - - 1 Johan den Dunnen
+/. - c.48+2dup r.spl? p.? Unknown - pathogenic g.34459053dup g.34459055dup DNAI1(NM_001281428.1):c.48+2dup (p.?), DNAI1(NM_001281428.1):c.48+2dupT, DNAI1(NM_001281428.2):c.48+2dupT - FAM219A_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.48+2dup r.spl? p.? Unknown - pathogenic g.34459053dup g.34459055dup DNAI1(NM_001281428.1):c.48+2dup (p.?), DNAI1(NM_001281428.1):c.48+2dupT, DNAI1(NM_001281428.2):c.48+2dupT - FAM219A_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.48+2dup r.spl? p.? Unknown - pathogenic g.34459053dup g.34459055dup DNAI1(NM_001281428.1):c.48+2dup (p.?), DNAI1(NM_001281428.1):c.48+2dupT, DNAI1(NM_001281428.2):c.48+2dupT - FAM219A_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.48+2dup r.spl? p.? Unknown - pathogenic g.34459053dup g.34459055dup DNAI1(NM_001281428.1):c.48+2dup (p.?), DNAI1(NM_001281428.1):c.48+2dupT, DNAI1(NM_001281428.2):c.48+2dupT - FAM219A_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.48+2dup r.spl? p.? Unknown - pathogenic g.34459053dup g.34459055dup DNAI1(NM_001281428.1):c.48+2dup (p.?), DNAI1(NM_001281428.1):c.48+2dupT, DNAI1(NM_001281428.2):c.48+2dupT - FAM219A_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.48+2dup r.spl p.? Paternal (confirmed) - pathogenic g.34459053dup g.34459055dup - - FAM219A_000001 - PubMed: Liu 2020, Journal: Liu 2020 - rs1435805945 Germline yes - - - - DNA SEQ, SEQ-NG-I Amniocentesis Panel of 461 genes CHD, HTX Pt6428 PubMed: Liu 2020, Journal: Liu 2020 - M no France - 00y - - - 1 Patrice Bouvagnet
+?/. 1i c.48+2dup r.48_49= p.= Unknown - likely pathogenic g.34459053dup g.34459055dup - - FAM219A_000001 no effect on RNA - - - Germline/De novo (untested) - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG amniocytes mRNA splicing analysis on tissue ? - - - - - Netherlands - - - - - 1 Tjakko van Ham
?/. - c.81+20T>C r.(?) p.(=) Unknown - VUS g.34483498T>C g.34483500T>C - - DNAI1_000037 - PubMed: Alsamri 2021 - rs572257884 Germline - - - - - DNA SEQ-NG - 28-gene panel PCD CILD - PubMed: Alsamri 2021 analysis 66 patients with significant clinical respiratory problems - - United Arab Emirates - - - - - 1 Johan den Dunnen
+/. - c.126G>A r.(?) p.(Trp42Ter) Unknown - pathogenic g.34485184G>A g.34485186G>A DNAI1(NM_001281428.2):c.126G>A (p.W42*) - DNAI1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.178G>A r.(?) p.(Ala60Thr) Unknown - VUS g.34485236G>A - DNAI1(NM_012144.4):c.178G>A (p.(Ala60Thr)) - DNAI1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.179C>T r.(?) p.(Ala60Val) Unknown - benign g.34485237C>T g.34485239C>T DNAI1(NM_012144.3):c.179C>T (p.A60V) - DNAI1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.274_281delAAGCCTAT r.(?) p.(Lys92TrpfsTer23) Unknown - VUS g.34489333_34489340del g.34489335_34489342del - - DNAI1_000038 - PubMed: Alsamri 2021 - - Germline - - - - - DNA SEQ-NG - 28-gene panel PCD CILD - PubMed: Alsamri 2021 analysis 66 patients with significant clinical respiratory problems - - United Arab Emirates - - - - - 1 Johan den Dunnen
+/. - c.336del r.(?) p.(Asp114Thrfs*14) Unknown - pathogenic g.34489395del - DNAI1(NM_012144.4):c.336delC (p.D114Tfs*14) - DNAI1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.370C>T r.(?) p.(Arg124Cys) Unknown - VUS g.34489429C>T g.34489431C>T DNAI1(NM_001281428.1):c.370C>T (p.(Arg124Cys)), DNAI1(NM_001281428.2):c.370C>T (p.R124C) - DNAI1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.370C>T r.(?) p.(Arg124Cys) Unknown - VUS g.34489429C>T - DNAI1(NM_001281428.1):c.370C>T (p.(Arg124Cys)), DNAI1(NM_001281428.2):c.370C>T (p.R124C) - DNAI1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.378A>G r.(?) p.(Glu126=) Unknown - benign g.34489437A>G g.34489439A>G DNAI1(NM_012144.3):c.378A>G (p.E126=) - DNAI1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.757C>A r.(?) p.(Pro253Thr) Unknown - VUS g.34493267C>A - - - DNAI1_000023 - - - - Unknown - - - - - DNA SEQ - - ? - - - F - - - - - - - 1 Gunnar Schmidt
+/. - c.814C>T r.(?) p.(Gln272*) Unknown - pathogenic g.34493324C>T - DNAI1(NM_001281428.2):c.826C>T (p.Q276*) - DNAI1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1003G>A r.(?) p.(Val335Ile) Unknown - benign g.34500821G>A g.34500823G>A DNAI1(NM_012144.3):c.1003G>A (p.V335I), DNAI1(NM_012144.4):c.1003G>A (p.V335I) - DNAI1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1003G>A r.(?) p.(Val335Ile) Unknown - benign g.34500821G>A g.34500823G>A DNAI1(NM_012144.3):c.1003G>A (p.V335I), DNAI1(NM_012144.4):c.1003G>A (p.V335I) - DNAI1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1019+5G>T r.spl? p.? Unknown - likely pathogenic g.34500842G>T - DNAI1(NM_001281428.2):c.1031+5G>T - DNAI1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1063+1G>A r.spl? p.? Unknown - pathogenic g.34501180G>A - - - DNAI1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1075+1G>A r.spl p.? Maternal (confirmed) - pathogenic g.34501180G>A g.34501182G>A - - DNAI1_000022 Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Liu 2020, Journal: Liu 2020 - - Germline yes 1/80 patients - - - DNA SEQ, SEQ-NG-I Amniocentesis Panel of 461 genes CHD, HTX Pt6428 PubMed: Liu 2020, Journal: Liu 2020 - M no France - 00y - - - 1 Patrice Bouvagnet
?/. - c.1163G>T r.(?) p.(Cys388Phe) Unknown - VUS g.34506724G>T g.34506726G>T DNAI1(NM_001281428.2):c.1175G>T (p.C392F) - DNAI1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1168G>A r.(?) p.(Asp390Asn) Unknown - VUS g.34506729G>A - DNAI1(NM_001281428.2):c.1180G>A (p.D394N) - DNAI1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1168G>T r.(?) p.(Asp390Tyr) Unknown - VUS g.34506729G>T - DNAI1(NM_001281428.1):c.1180G>T (p.D394Y) - DNAI1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1173C>G r.(?) p.(Ile391Met) Unknown - likely benign g.34506734C>G g.34506736C>G - - DNAI1_000039 - PubMed: Alsamri 2021 - rs151097256 Germline - - - - - DNA SEQ-NG - 28-gene panel PCD CILD - PubMed: Alsamri 2021 analysis 66 patients with significant clinical respiratory problems - - United Arab Emirates - - - - - 1 Johan den Dunnen
?/. - c.1225G>A r.(?) p.(Ala409Thr) Unknown - VUS g.34506786G>A - DNAI1(NM_001281428.1):c.1237G>A (p.A413T) - DNAI1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1231del r.(?) p.(Tyr411ThrfsTer56) Unknown - pathogenic g.34506792del g.34506794del DNAI1(NM_001281428.2):c.1243delT (p.Y415Tfs*56) - DNAI1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1265_1267del r.(?) p.(Phe422del) Unknown - likely benign g.34506826_34506828del g.34506828_34506830del - - DNAI1_000040 - PubMed: Alsamri 2021 - rs567346433 Germline - - - - - DNA SEQ-NG - 28-gene panel PCD CILD - PubMed: Alsamri 2021 analysis 66 patients with significant clinical respiratory problems - - United Arab Emirates - - - - - 1 Johan den Dunnen
+/. - c.1339C>T r.(?) p.(Gln447*) Unknown - pathogenic g.34512134C>T - DNAI1(NM_001281428.2):c.1351C>T (p.Q451*) - DNAI1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1401+1G>A r.spl? p.? Unknown - likely pathogenic g.34512197G>A - DNAI1(NM_001281428.2):c.1413+1G>A - DNAI1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1401+3G>A r.spl? p.? Unknown - likely benign g.34512199G>A g.34512201G>A DNAI1(NM_001281428.1):c.1413+3G>A - DNAI1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1402-2A>G r.spl? p.? Unknown - pathogenic g.34512333A>G - - - DNAI1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1431del r.(?) p.(Lys477Asnfs*2) Unknown - pathogenic g.34512364del - DNAI1(NM_001281428.2):c.1443delG (p.K481Nfs*2) - DNAI1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1460T>G r.(?) p.(Val487Gly) Unknown - benign g.34512393T>G g.34512395T>G DNAI1(NM_012144.3):c.1460T>G (p.V487G) - DNAI1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1484C>T r.(?) p.(Pro495Leu) Unknown - VUS g.34512417C>T g.34512419C>T DNAI1(NM_001281428.1):c.1496C>T (p.P499L) - DNAI1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1490-2A>G r.spl? p.? Unknown - pathogenic g.34513108A>G g.34513110A>G DNAI1(NM_001281428.2):c.1502-2A>G, DNAI1(NM_012144.4):c.1490-2A>G - DNAI1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1490-2A>G r.spl? p.? Unknown - pathogenic g.34513108A>G - DNAI1(NM_001281428.2):c.1502-2A>G, DNAI1(NM_012144.4):c.1490-2A>G - DNAI1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1490-2A>G r.spl? p.? Unknown - likely pathogenic g.34513108A>G - DNAI1(NM_001281428.2):c.1502-2A>G, DNAI1(NM_012144.4):c.1490-2A>G - DNAI1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1611C>T r.(?) p.(Asp537=) Unknown - likely benign g.34514433C>T g.34514435C>T DNAI1(NM_012144.3):c.1611C>T (p.D537=) - DNAI1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 17 c.1612G>A r.(?) p.(Ala538Thr) Both (homozygous) - VUS g.34514434G>A g.34514436G>A - - DNAI1_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - - - - - - - - - - - - - 1 Christopher Watson
+/. - c.1612G>A r.(?) p.(Ala538Thr) Unknown - pathogenic g.34514434G>A - DNAI1(NM_001281428.2):c.1624G>A (p.A542T) - DNAI1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1628T>C r.(?) p.(Val543Ala) Unknown - VUS g.34514450T>C g.34514452T>C DNAI1(NM_001281428.2):c.1640T>C (p.V547A) - DNAI1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1644G>A r.(?) p.(Trp548*) Unknown - pathogenic g.34514466G>A - DNAI1(NM_012144.4):c.1644G>A (p.W548*) - DNAI1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1877C>T r.(?) p.(Ala626Val) Unknown - likely benign g.34517341C>T - DNAI1(NM_001281428.1):c.1889C>T (p.A630V) - ENHO_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1890C>T r.(?) p.(Asn630=) Unknown - likely benign g.34517354C>T - DNAI1(NM_001281428.1):c.1902C>T (p.N634=) - ENHO_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2045T>C r.(?) p.(Ile682Thr) Unknown - likely pathogenic g.34520699T>C g.34520701T>C DNAI1(NM_012144.2):c.2045T>C (p.(Ile682Thr)) - ENHO_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2045T>C r.(?) p.(Ile682Thr) Parent #1 - VUS g.34520699T>C g.34520701T>C - - ENHO_000002 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs138460682 Germline - 2/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
+/. 20 c.2045T>C r.2045T>C p.Ile682Thr Unknown - pathogenic g.34520699T>C g.34520701T>C - - ENHO_000002 no effect on RNA - - - Germline/De novo (untested) - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG amniocytes mRNA splicing analysis on tissue ? - - - - - Netherlands - - - - - 1 Tjakko van Ham
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