Full data view for gene LPIN1

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

39 entries on 1 page. Showing entries 1 - 39.
Legend   How to query  

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.-68944C>T r.(?) p.(=) Unknown - likely benign g.11817863C>T - LPIN1(NM_001261428.2):c.81+9C>T, LPIN1(NM_001261428.3):c.81+9C>T - LPIN1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-68944C>T r.(?) p.(=) Unknown - likely benign g.11817863C>T - LPIN1(NM_001261428.2):c.81+9C>T, LPIN1(NM_001261428.3):c.81+9C>T - LPIN1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-32894G>A r.(?) p.(=) Unknown - benign g.11853913G>A - LPIN1(NM_001261428.3):c.113G>A (p.(Arg38Gln), p.R38Q) - LPIN1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-32894G>A r.(?) p.(=) Unknown - benign g.11853913G>A - LPIN1(NM_001261428.3):c.113G>A (p.(Arg38Gln), p.R38Q) - LPIN1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-32868G>A r.(?) p.(=) Unknown - VUS g.11853939G>A g.11713813G>A - - LPIN1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-10+120G>A r.(=) p.(=) Parent #1 - VUS g.11886917G>A g.11746791G>A - - LPIN1_000015 - - - rs112959048 Germline - - - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Andreas Laner
-/. - c.-10+155G>C r.(=) p.(=) Parent #1 - benign g.11886952G>C g.11746826G>C - - LPIN1_000016 - - - rs62113307 Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-/. - c.-9-14del r.(=) p.(=) Parent #1 - benign g.11905645del g.11765519del - - LPIN1_000017 - - - rs75670699 Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-/. - c.-9-14del r.(=) p.(=) Unknown - benign g.11905645del g.11765519del LPIN1(NM_001261428.3):c.139-14delT - LPIN1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.? r.(?) p.(?)* Paternal (confirmed) - pathogenic (recessive) g.(11905668_11964917)? g.(11765542_11824791)? - - LPIN1_000000 - PubMed: Hong 2022 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES NMD CDC_NM42.1 PubMed: Hong 2022 - - - Korea - - - - - 1 Johan den Dunnen
+/. - c.57C>A r.(?) p.(Tyr19*) Parent #1 - pathogenic g.11905724C>A g.11765598C>A - - LPIN1_000018 - - - - Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-/. - c.192+17C>T r.(=) p.(=) Unknown - benign g.11905876C>T g.11765750C>T - - LPIN1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.193-47C>T r.(=) p.(=) Parent #1 - benign g.11907842C>T g.11767716C>T - - LPIN1_000011 - - - rs45509591 Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
+/. - c.288G>A r.193_288del p.Val65_Gln96del Maternal (confirmed) - pathogenic (recessive) g.11907984G>A - - - LPIN1_000034 - PubMed: Hong 2022 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES NMD CDC_NM42.1 PubMed: Hong 2022 - - - Korea - - - - - 1 Johan den Dunnen
-/. - c.289-149A>C r.(=) p.(=) Parent #1 - benign g.11911349A>C g.11771223A>C - - LPIN1_000012 - - - rs80269575 Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
+?/. - c.358_359dup r.(?) p.(Lys121*) Both (homozygous) - likely pathogenic g.11907909_11907910dup g.11767783_11767784dup LPIN1(NM_145693.2):c.357_358insCT(p.K121Terfs*1) - LPIN1_000035 - PubMed: Sun 2018 - - Germline/De novo (untested) ? 250 - - - DNA SEQ-NG-I blood - ? WHP150 PubMed: Sun 2018 - M - China - - - - - 1 LOVD
-/. - c.552C>T r.(=) p.(=) Parent #1 - benign g.11911761C>T g.11771635C>T - - LPIN1_000013 - - - rs11538448 Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-/. - c.552C>T r.(?) p.(Ile184=) Unknown - benign g.11911761C>T g.11771635C>T LPIN1(NM_001261428.3):c.699C>T (p.I233=) - LPIN1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.552C>T r.(?) p.(Ile184=) Unknown - benign g.11911761C>T g.11771635C>T LPIN1(NM_001261428.3):c.699C>T (p.I233=) - LPIN1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.597-19C>T r.(=) p.(=) Parent #1 - VUS g.11913727C>T g.11773601C>T - - LPIN1_000014 - - - rs80086468 Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-/. - c.657G>A r.(=) p.(=) Parent #1 - benign g.11913806G>A g.11773680G>A - - LPIN1_000001 - - - rs59909741 Germline - - - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Andreas Laner
?/. - c.722+2339A>C r.(=) p.(=) Unknown - VUS g.11916210A>C g.11776084A>C LPIN1(NM_001349205.1):c.723-2A>C - LPIN1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.746C>A r.(?) p.(Thr249Lys) Paternal (confirmed) - VUS g.11919668C>A g.11779542C>A - - LPIN1_000026 association variant with phenotype uncertain PubMed: Wong 2019, Journal: Wong 2019 - rs141555457 Germline - - - - - DNA SEQ-NG-I - - FH Fam2PatI1 PubMed: Wong 2019, Journal: Wong 2019 2-generation family, 2 homozygous affected sisters (I1, I3), heterozygous carrier parents F - Mexico Hispanic 02y - - - 1 Karen HY Wong
?/. - c.871A>G r.(?) p.(Lys291Glu) Unknown - VUS g.11922348A>G g.11782222A>G - - LPIN1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.952T>G r.(?) p.(Phe318Val) Parent #1 - VUS g.11922429T>G g.11782303T>G - - LPIN1_000002 Polyphen-2:benign (PSIC: 0,042) - - - Germline - - - - - DNA SEQ - - MEOAL;MMDS8 - - - - - Germany - - - - - 1 Andreas Laner
-/. - c.1480G>A r.(?) p.(Val494Met) Parent #1 - benign g.11927238G>A g.11787112G>A - - LPIN1_000003 1,7% MAF - - rs33997857 Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-?/. - c.1480G>A r.(?) p.(Val494Met) Parent #1 - likely benign g.11927238G>A g.11787112G>A - - LPIN1_000003 16 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs33997857 Germline - 16/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 16 Mohammed Faruq
-/. - c.1536-90C>T r.(=) p.(=) Parent #1 - benign g.11928423C>T g.11788297C>T - - LPIN1_000004 - - - rs17603350 Germline - frequency 4-7% - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-/. - c.1606-100dup r.(=) p.(=) Parent #1 - benign g.11931940dup g.11791814dup - - LPIN1_000005 - - - rs78343196 Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-?/. - c.1621A>G r.(?) p.(Ile541Val) Unknown - likely benign g.11932055A>G g.11791929A>G LPIN1(NM_001261428.2):c.1876A>G (p.I626V) - LPIN1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1949_1967dup r.(?) p.(Gly657Cysfs*12) Parent #1 - likely pathogenic (recessive) g.11944592_11944610dup g.11804466_11804484dup - - LPIN1_000025 - - - - Germline - - - - - DNA SEQ leukocytes - myoglobinuria - - - M no Hong Kong Hong Kong Chinese - - - - 1 Felix Chi Kin Wong
-?/. - c.1974G>A r.(?) p.(Thr658=) Unknown - likely benign g.11944617G>A - LPIN1(NM_001349205.1):c.2082G>A (p.T694=) - LPIN1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2054+39T>C r.(=) p.(=) Parent #1 - VUS g.11944736T>C g.11804610T>C - - LPIN1_000006 - - - rs75389218 Germline - - - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Andreas Laner
-/. - c.2250G>C r.(?) p.(Gly750=) Unknown - benign g.11955322G>C - LPIN1(NM_145693.4):c.2250G>C (p.G750=) - LPIN1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2410G>C r.(?) p.(Asp804His) Parent #2 - VUS g.11960537G>C g.11820411G>C - - LPIN1_000024 - - - - Germline - - felixck - - DNA SEQ leukocytes - myoglobinuria - - - M no Hong Kong Hong Kong Chinese - - - - 1 Felix Chi Kin Wong
+/. - c.2513+1G>A r.spl? p.? Parent #1 - pathogenic g.11960641G>A g.11820515G>A - - LPIN1_000007 - - - - Germline - - - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Andreas Laner
-/. - c.*1570C>G r.(=) p.(=) Parent #1 - benign g.11966487C>G g.11826361C>G - - LPIN1_000008 - - - rs10700 Germline - frequency 7-14% - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
?/. - c.*2094T>G r.(=) p.(=) Parent #1 - VUS g.11967011T>G g.11826885T>G - - LPIN1_000009 - - - - Germline - - - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Andreas Laner
?/. - c.*2284A>G r.(=) p.(=) Parent #1 - VUS g.11967201A>G g.11827075A>G - - LPIN1_000010 - - - - Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.