Full data view for gene AZI1

Information The variants shown are described using the NM_014984.2 transcript reference sequence.

12 entries on 1 page. Showing entries 1 - 12.
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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     

Treatment     

Panel size     

Owner     
?/. - c.130C>T r.(?) p.(Arg44Cys) Unknown - VUS g.79193727G>A - AZI1(NM_014984.2):c.130C>T (p.(Arg44Cys)) - AZI1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.178-2386T>C r.(=) p.(=) Both (homozygous) - VUS g.79185208A>G g.81211408A>G - - AZI1_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. - c.686T>C r.(?) p.(Leu229Pro) Unknown - likely benign g.79176142A>G - CEP131(NM_014984.4):c.686T>C (p.(Leu229Pro)) - AZI1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.788+8A>C r.(=) p.(=) Unknown - likely benign g.79176032T>G - CEP131(NM_014984.4):c.788+8A>C - AZI1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1157G>T r.(?) p.(Gly386Val) Unknown - likely benign g.79173216C>A - AZI1(NM_014984.2):c.1157G>T (p.(Gly386Val)) - AZI1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1337C>T r.(?) p.(Pro446Leu) Unknown - VUS g.79172048G>A - CEP131(NM_014984.4):c.1337C>T (p.(Pro446Leu)) - AZI1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1426C>T r.(?) p.(Arg476Cys) Unknown - likely benign g.79171959G>A - CEP131(NM_014984.4):c.1426C>T (p.(Arg476Cys)) - AZI1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1445G>A r.(?) p.(Arg482Lys) Unknown - likely benign g.79171940C>T - CEP131(NM_014984.4):c.1445G>A (p.(Arg482Lys)) - AZI1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1656_1657insT r.(?) p.(Pro553Serfs*80) Unknown - VUS g.79170846_79170847insA - CEP131(NM_014984.4):c.1656_1657insT (p.(Pro553Serfs*80)) - AZI1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1850G>A r.(?) p.(Arg617Lys) Unknown - likely benign g.79170550C>T - CEP131(NM_014984.4):c.1850G>A (p.(Arg617Lys)) - AZI1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 22 c.2627C>T r.(?) p.(Ala876Val) Unknown - VUS g.79165131G>A g.81191331G>A - - AZI1_000002 - - - - Somatic - - - - - DNA SEQ-NG-I Tumor - NF1 ID44 - NF1 patient F ? (Germany) - ? - - - 1 Denise Emmerich
?/. - c.2920C>T r.(?) p.(Arg974Trp) Unknown - VUS g.79164730G>A - CEP131(NM_014984.4):c.2920C>T (p.(Arg974Trp)) - AZI1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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