Full data view for gene LPA

Information The variants shown are described using the NM_005577.2 transcript reference sequence.

18 entries on 1 page. Showing entries 1 - 18.
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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.109C>T r.(?) p.(Arg37Ter) Unknown - likely pathogenic g.161071470G>A g.160650438G>A - - LPA_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1006G>C r.(?) p.(Ala336Pro) Unknown - likely benign g.161056224C>G - LPA(NM_005577.2):c.1006G>C (p.(Ala336Pro)) - LPA_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2603+1G>A r.spl? p.? Unknown - VUS g.161032593C>T g.160611561C>T LPA(NM_005577.2):c.2603+1G>A (p.?) - LPA_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3629+239A>G r.(=) p.(=) Unknown - benign g.161014751T>C - LPA(NM_005577.4):c.3629+239A>G - LPA_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3947+231G>T r.(=) p.(=) Unknown - benign g.161010354C>A - LPA(NM_005577.4):c.3947+231G>T - LPA_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3947+467T>C r.(=) p.(=) Parent #1 - VUS g.161010118A>G g.160589086A>G - - LPA_000006 drug response; 136 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs10455872 Germline - 136/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 136 Mohammed Faruq
?/. - c.3947+467T>C r.(=) p.(=) Both (homozygous) - VUS g.161010118A>G g.160589086A>G - - LPA_000006 drug response; 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs10455872 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
-/. - c.3947+467T>C r.(=) p.(=) Unknown - benign g.161010118A>G - LPA(NM_005577.4):c.3947+467T>C - LPA_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.4289+1G>A r.spl? p.? Both (homozygous) - pathogenic g.161006077C>T g.160585045C>T - - LPA_000001 association variant/phenotype uncertain PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 proband - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
./. - c.4289+1G>A r.spl? p.? Both (homozygous) - pathogenic g.161006077C>T g.160585045C>T - - LPA_000001 association variant/phenotype uncertain PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 uninherited diplotypes - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
./. - c.4289+1G>A r.spl? p.? Both (homozygous) - pathogenic g.161006077C>T g.160585045C>T - - LPA_000001 association variant/phenotype uncertain PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 uninherited diplotypes - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
-/. - c.4289+1G>A r.spl? p.? Parent #1 - benign g.161006077C>T g.160585045C>T - - LPA_000001 157 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs41272114 Germline - 157/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 157 Mohammed Faruq
-/. - c.4289+1G>A r.spl? p.? Both (homozygous) - benign g.161006077C>T g.160585045C>T - - LPA_000001 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs41272114 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
?/. - c.4696G>T r.(?) p.(Asp1566Tyr) Unknown - VUS g.160978539C>A - LPA(NM_005577.2):c.4696G>T (p.(Asp1566Tyr)) - LPA_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5087_5088del r.(?) p.(Thr1696ArgfsTer21) Unknown - VUS g.160969580_160969581del g.160548548_160548549del LPA(NM_005577.3):c.5087_5088delCA (p.T1696Rfs*21) - LPA_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5261C>T r.(?) p.(Thr1754Met) Unknown - likely benign g.160968864G>A - LPA(NM_005577.2):c.5261C>T (p.(Thr1754Met)) - LPA_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.5673A>G r.(?) p.(Ile1891Met) Unknown - benign g.160961137T>C - LPA(NM_005577.4):c.5673A>G (p.I1891M) - LPA_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.5735+202_5735+203insA r.(=) p.(=) Unknown - benign g.160960872_160960873insT - LPA(NM_005577.4):c.5735+202_5735+203insA - LPA_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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