Full data view for gene P4HTM

Information The variants shown are described using the NM_177938.2 transcript reference sequence.

28 entries on 1 page. Showing entries 1 - 28.
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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.164T>A r.(?) p.(Ile55Asn) Unknown - VUS g.49027853T>A - P4HTM(NM_177939.3):c.164T>A (p.(Ile55Asn)) - ARIH2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.286dup r.(?) p.(Gln96Profs*29) Paternal (confirmed) - likely pathogenic (recessive) g.49027975dup g.48990542dup 286dupC - P4HTM_000002 - PubMed: Rahikkala 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? Fam2PatII1/3 PubMed: Rahikkala 2019 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M no United States - - - - - 2 Elisa Rahikkala
-?/. - c.436+8C>T r.(=) p.(=) Unknown - likely benign g.49028355C>T - P4HTM(NM_177938.2):c.436+8C>T - ARIH2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.482A>C r.(?) p.(His161Pro) Maternal (confirmed) - pathogenic (recessive) g.49038916A>C g.49001483A>C - - P4HTM_000003 - PubMed: Rahikkala 2019 - - Germline yes - - - - DNA SEQ, SEQ-NG - - ? Fam2PatII1/3 PubMed: Rahikkala 2019 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M no United States - - - - - 2 Elisa Rahikkala
?/. - c.764G>A r.(?) p.(Arg255Gln) Unknown - VUS g.49041570G>A - P4HTM(NM_177938.2):c.764G>A (p.R255Q) - P4HTM_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.912G>A r.(?) p.(Ser304=) Unknown - likely benign g.49042318G>A - P4HTM(NM_177938.2):c.912G>A (p.S304=) - P4HTM_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.934G>A r.(?) p.(Glu312Lys) Both (homozygous) ACMG pathogenic (recessive) g.49042340G>A g.49004907G>A - - P4HTM_000008 - - - - Germline yes - - - - DNA SEQ-NG - - HIDEA - - - F yes Iran - - - - - 1 Elisa Rahikkala
?/. - c.949del r.(?) p.(Val317PhefsTer30) Unknown - VUS g.49042355del - P4HTM(NM_177938.2):c.949delG (p.V317Ffs*30) - P4HTM_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 9 c.949del r.(?) p.(Val317Phefs*30) Both (homozygous) - pathogenic (recessive) g.49042355del g.49004922del 949delG - P4HTM_000001 - PubMed: Rahikkala 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - trio WES ? Fam4PatII2 PubMed: Rahikkala 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Finland - - - - - 1 Johan den Dunnen
+/. 6 c.1073G>A r.888_1256del p.Arg296_Tyr418del Both (homozygous) - pathogenic (recessive) g.49042479G>A g.49005046G>A - - P4HTM_000004 reported r.888_1073del (Arg296Ser;Val297_Arg358del) not visible in Fig3B PubMed: Kaasinen 2014 - rs182812551 Germline yes - - - - DNA, RNA RT-PCR, SEQ - - ? - PubMed: Kaasinen 2014 12-generation family, 6 affected (3F, 3M), unaffected heterozygous carrier parents/relatives F;M yes Finland - - - - - 6 Elisa Rahikkala
+/. 6 c.1073G>A r.(?) p.(Arg358Gln) Both (homozygous) - pathogenic (recessive) g.49042479G>A g.49005046G>A - - P4HTM_000004 - - - rs182812551 Germline yes - - - - DNA SEQ, SEQ-NG - - ? Patient 1 - - F no Finland - - - - - 1 Elisa Rahikkala
+/. - c.1073G>A r.(?) p.(Arg358Gln) Both (homozygous) ACMG pathogenic (recessive) g.49042479G>A g.49005046G>A - - P4HTM_000004 - - - rs182812551 Germline yes - - - - DNA SEQ-NG - - HIDEA - - - F no Finland - - - - - 1 Elisa Rahikkala
+/. - c.1073G>A r.(?) p.(Arg358Gln) Paternal (confirmed) ACMG pathogenic (recessive) g.49042479G>A g.49005046G>A - - P4HTM_000004 - - - rs182812551 Germline yes - - - - DNA SEQ-NG - - HIDEA - - - F no Finland - - - - - 1 Elisa Rahikkala
-?/. - c.1109T>G r.(?) p.(Leu370Arg) Unknown - likely benign g.49042515T>G - P4HTM(NM_177938.2):c.1109T>G (p.L370R) - P4HTM_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1265C>T r.(?) p.(Thr422Ile) Unknown ACMG pathogenic g.49043218C>T g.49005785C>T - - P4HTM_000009 - - - - Germline yes - - - - DNA SEQ-NG - - HIDEA - - - M yes France - - - - - 1 Elisa Rahikkala
-?/. - c.1348-5C>T r.spl? p.? Unknown - likely benign g.49043492C>T - P4HTM(NM_177938.2):c.1348-5C>T - P4HTM_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1421C>T r.(?) p.(Pro474Leu) Both (homozygous) ACMG pathogenic (recessive) g.49043570C>T g.49006137C>T - - P4HTM_000010 - - - - Germline yes - - - - DNA SEQ-NG - - HIDEA - - - M yes Finland - - - - - 1 Elisa Rahikkala
+/. - c.1421C>T r.(?) p.(Pro474Leu) Maternal (confirmed) ACMG pathogenic (recessive) g.49043570C>T g.49006137C>T - - P4HTM_000010 - - - rs757914897 Germline yes - - - - DNA SEQ-NG - - HIDEA - - - F no Finland - - - - - 1 Elisa Rahikkala
+?/. - c.1554G>A r.(?) p.(Trp518*) Both (homozygous) ACMG pathogenic (recessive) g.49044202G>A g.49006769G>A - - P4HTM_000011 - - - - Germline yes - - - - DNA SEQ-NG - - HIDEA - - - M yes Iran - - - - - 1 Elisa Rahikkala
+/. 9 c.1594C>T r.(?) p.(Gln532*) Both (homozygous) - pathogenic (recessive) g.49044242C>T g.49006809C>T - - P4HTM_000005 - PubMed: Rahikkala 2019 - - Germline yes - - - - DNA SEQ, SEQ-NG - - ? Fam3PatII1/2/4 PubMed: Rahikkala 2019 2-generation family, 3 affected brothers, unaffected heterozygous carrier parents M yes - - - - - - 3 Elisa Rahikkala
?/. - c.*6213G>A r.(=) p.(=) Unknown - VUS g.49050553G>A - WDR6(NM_018031.6):c.1586G>A (p.(Gly529Glu)) - P4HTM_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*6860A>G r.(=) p.(=) Unknown - VUS g.49051200A>G g.49013767A>G WDR6(NM_001320546.2):c.2155A>G (p.T719A) - P4HTM_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.*8764G>A r.(=) p.(=) Unknown - likely pathogenic g.49053104G>A - DALRD3(NM_001009996.3):c.1549C>T (p.R517C) - DALRD3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*8890T>C r.(=) p.(=) Unknown - likely benign g.49053230T>C - DALRD3(NM_001009996.3):c.1512+7A>G - NDUFAF3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*9702C>T r.(=) p.(=) Unknown - VUS g.49054042C>T - DALRD3(NM_001009996.3):c.1063+3G>A - NDUFAF3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*9705C>T r.(=) p.(=) Unknown - VUS g.49054045C>T - DALRD3(NM_001009996.3):c.1063G>A (p.(Asp355Asn)) - NDUFAF3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*10793C>T r.(=) p.(=) Unknown - VUS g.49055133C>T g.49017700C>T DALRD3(NM_001009996.2):c.631G>A (p.(Gly211Ser)) - DALRD3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*11497C>G r.(=) p.(=) Unknown - VUS g.49055837C>G g.49018404C>G DALRD3(NM_001009996.2):c.161G>C (p.(Gly54Ala)) - DALRD3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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