Full data view for gene HTRA2

Information The variants shown are described using the NM_013247.4 transcript reference sequence.

23 entries on 1 page. Showing entries 1 - 23.
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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.178C>T r.(?) p.(Arg60Trp) Unknown - VUS g.74757311C>T g.74530184C>T HTRA2(NM_013247.4):c.178C>T (p.R60W) - AUP1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.215T>C r.(?) p.(Leu72Pro) Unknown - likely benign g.74757348T>C g.74530221T>C HTRA2(NM_013247.4):c.215T>C (p.L72P) - HTRA2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.354G>A r.(?) p.(Leu118=) Unknown - likely benign g.74757487G>A g.74530360G>A HTRA2(NM_013247.4):c.354G>A (p.L118=) - HTRA2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.421G>T r.(?) p.(Ala141Ser) Unknown - benign g.74757554G>T g.74530427G>T HTRA2(NM_013247.4):c.421G>T (p.A141S) - HTRA2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.506+8_506+10del r.(=) p.(=) Unknown - VUS g.74757647_74757649del g.74530520_74530522del HTRA2(NM_013247.4):c.506+8_506+10delTGG - HTRA2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.627A>G r.(?) p.(Arg209=) Unknown - likely benign g.74757864A>G g.74530737A>G HTRA2(NM_013247.4):c.627A>G (p.R209=) - HTRA2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.885T>C r.(?) p.(Ile295=) Unknown - likely benign g.74758211T>C g.74531084T>C HTRA2(NM_013247.4):c.885T>C (p.I295=) - AUP1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.940-18G>A r.(=) p.(=) Unknown - likely benign g.74758706G>A g.74531579G>A HTRA2(NM_001321727.1):c.952G>A (p.G318R) - AUP1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1115+9T>C r.(=) p.(=) Unknown - likely benign g.74759061T>C g.74531934T>C HTRA2(NM_013247.4):c.1115+9T>C - HTRA2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/? ? c.1195G>A r.(?) p.(Gly399Ser) Parent #1 - VUS g.74759825G>A g.74532698G>A - - HTRA2_000001 variant marked as interesting (probably affects the function of the gene with phenotypic consequences) from an exome analysis. Please contact me. - - - Unknown - - - 1 - - - - - - - - - - - - - - - - - - -
?/. - c.1195G>A r.(?) p.(Gly399Ser) Unknown - VUS g.74759825G>A g.74532698G>A HTRA2(NM_013247.4):c.1195G>A (p.G399S) - HTRA2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1195G>A r.(?) p.(Gly399Ser) Parent #1 - likely benign g.74759825G>A g.74532698G>A - - HTRA2_000001 76 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs72470545 Germline - 76/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 76 Mohammed Faruq
-?/. - c.1195G>A r.(?) p.(Gly399Ser) Unknown - likely benign g.74759825G>A - HTRA2(NM_013247.4):c.1195G>A (p.G399S) - HTRA2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1210C>T r.(?) p.(Arg404Trp) Unknown - VUS g.74759840C>T g.74532713C>T - - LOXL3_000002 - PubMed: Taylor 2014 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES ? Pat43 PubMed: Taylor 2014 - F - United Kingdom (Great Britain) British <01m 0 - - 1 Johan den Dunnen
?/. - c.1222C>T r.(?) p.(Arg408Trp) Unknown - VUS g.74759957C>T - HTRA2(NM_013247.4):c.1222C>T (p.R408W) - AUP1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1327C>T r.(?) p.(Arg443Trp) Unknown - VUS g.74760062C>T g.74532935C>T HTRA2(NM_013247.4):c.1327C>T (p.(Arg443Trp)) - AUP1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2690G>A r.(=) p.(=) Unknown - likely benign g.74762802G>A g.74535675G>A LOXL3(NM_032603.4):c.1329C>T (p.G443=) - LOXL3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.*2697C>T r.(=) p.(=) Unknown - VUS g.74762809C>T - LOXL3(NM_032603.4):c.1322G>A (p.R441H) - AUP1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3775G>A r.(=) p.(=) Unknown - likely benign g.74763887G>A g.74536760G>A LOXL3(NM_032603.4):c.861C>T (p.Y287=) - AUP1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*17272C>T r.(=) p.(=) Unknown - likely benign g.74777384C>T g.74550257C>T LOXL3(NM_032603.4):c.405G>A (p.T135=) - DOK1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*17341C>T r.(=) p.(=) Unknown - likely benign g.74777453C>T g.74550326C>T LOXL3(NM_032603.4):c.336G>A (p.L112=) - DOK1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*19563A>C r.(=) p.(=) Unknown - likely benign g.74779675A>C - LOXL3(NM_032603.4):c.87T>G (p.P29=) - DOK1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*19571G>C r.(=) p.(=) Unknown - likely benign g.74779683G>C g.74552556G>C LOXL3(NM_032603.4):c.79C>G (p.P27A) - DOK1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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