Full data view for gene LEP

Information The variants shown are described using the NM_000230.2 transcript reference sequence.

30 entries on 1 page. Showing entries 1 - 30.
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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.-6881324_*7679143del r.0? p.0? Unknown - pathogenic g.121000064_135573959del - - - IMPDH1_000003 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
+/. 1i_2 c.-28-16_-3del r.-28_144del p.0? Both (homozygous) - pathogenic g.127892028_127892069del g.128251975_128252016del 1-44del42 - LEP_000006 - PubMed: Saeed 2015 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - obesity 26179253-F75 PubMed: Saeed 2015 family, 1 affected, unaffected heterozygous carrier parents M yes Pakistan Punjab - - - - 1 Johan den Dunnen
-/. - c.15C>G r.(?) p.(Thr5=) Unknown - benign g.127892086C>G g.128252033C>G LEP(NM_000230.3):c.15C>G (p.T5=) - LEP_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.15C>G r.(?) p.(Thr5=) Unknown - benign g.127892086C>G - LEP(NM_000230.3):c.15C>G (p.T5=) - LEP_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.100C>T r.(?) p.(Leu34Phe) Unknown - VUS g.127892171C>T - LEP(NM_000230.3):c.100C>T (p.L34F) - LEP_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.104_106del r.(?) p.(Ile35del) Both (homozygous) - pathogenic g.127892175_127892177del g.128252122_128252124del 104_106delTCA - LEP_000007 - PubMed: Saeed 2012 - - Germline - - - - - DNA SEQ - - obesity 22463805-Pat PubMed: Saeed 2012 family, 1 affected, unaffected heterozygous carrier parents (first cousin) - yes Pakistan Punjab (Arain) - - - - 1 Johan den Dunnen
-?/. - c.132C>T r.(?) p.(=) Unknown - likely benign g.127892203C>T - LEP(NM_000230.3):c.132C>T (p.D44=) - LEP_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.144+5G>A r.spl? p.? Unknown - likely benign g.127892220G>A - LEP(NM_000230.3):c.144+5G>A - LEP_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.204C>G r.(?) p.(Pro68=) Unknown - likely benign g.127894516C>G - LEP(NM_000230.3):c.204C>G (p.P68=) - LEP_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.280G>A r.(?) p.(Val94Met) Unknown - benign g.127894592G>A g.128254539G>A LEP(NM_000230.3):c.280G>A (p.V94M) - LEP_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.298G>A r.(?) p.(Asp100Asn) Unknown - VUS g.127894610G>A - LEP(NM_000230.3):c.298G>A (p.D100N) - LEP_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.309C>T r.(?) p.(Asn103=) Unknown - benign g.127894621C>T g.128254568C>T LEP(NM_000230.3):c.309C>T (p.N103=) - LEP_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.309C>T r.(?) p.(Asn103=) Unknown - benign g.127894621C>T - LEP(NM_000230.3):c.309C>T (p.N103=) - LEP_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.311T>G r.(?) p.(Leu104Arg) Unknown - VUS g.127894623T>G - LEP(NM_000230.2):c.311T>G (p.L104R) - LEP_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.313C>T r.(?) p.(Arg105Trp) Both (homozygous) - pathogenic g.127894625C>T g.128254572C>T - - LEP_000008 - PubMed: Saeed 2015 - - Germline - - - - - DNA SEQ - - obesity 26179253-F85 PubMed: Saeed 2015 family, 1 affected, unaffected heterozygous carrier parents M yes Pakistan Punjab - - - - 1 Johan den Dunnen
+/. 3 c.350G>A r.(?) p.(Cys117Tyr) Both (homozygous) - pathogenic g.127894662G>A g.128254609G>A - - LEP_000009 - PubMed: Saeed 2015 - - Germline - - - - - DNA SEQ - - obesity 26179253-F123 PubMed: Saeed 2015 family, 1 affected, unaffected heterozygous carrier parents M yes Pakistan Punjab - - - - 1 Johan den Dunnen
-?/. - c.372C>T r.(?) p.(=) Unknown - likely benign g.127894684C>T - LEP(NM_000230.3):c.372C>T (p.G124=) - LEP_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.398del r.(?) p.(Gly133Valfs*15) Both (homozygous) - pathogenic g.127894710del g.128254657del 398delG - LEP_000010 - PubMed: Saeed 2012 - - Germline - - - - - DNA SEQ - - obesity 22463805-Pat4 PubMed: Saeed 2012 family, 1 affected, unaffected heterozygous carrier parents (first cousin) F yes Pakistan Punjab (Arain) - - - - 1 Johan den Dunnen
+/. 3 c.398del r.(?) p.(Gly133Valfs*15) Both (homozygous) - pathogenic g.127894710del g.128254657del 398delG - LEP_000010 - PubMed: Saeed 2012 - - Germline - - - - - DNA SEQ - - obesity 22463805-Pat13 PubMed: Saeed 2012 family, 1 affected, unaffected heterozygous carrier parents (first cousin) M yes Pakistan Punjab (Arain) - - - - 1 Johan den Dunnen
+/. 3 c.398del r.(?) p.(Gly133Valfs*15) Both (homozygous) - pathogenic g.127894710del g.128254657del 398delG - LEP_000010 - PubMed: Saeed 2012 - - Germline - - - - - DNA SEQ - - obesity 22463805-Pat16 PubMed: Saeed 2012 family, 1 affected, unaffected heterozygous carrier parents (first cousin) M yes Pakistan Punjab (Arain) - - - - 1 Johan den Dunnen
+/. 3 c.398del r.(?) p.(Gly133Valfs*15) Both (homozygous) - pathogenic g.127894710del g.128254657del 398delG - LEP_000010 - PubMed: Saeed 2012 - - Germline - - - - - DNA SEQ - - obesity 22463805-Pat22 PubMed: Saeed 2012 family, 1 affected, unaffected heterozygous carrier parents (first cousin) M yes Pakistan Punjab (Arain) - - - - 1 Johan den Dunnen
+/. 3 c.398del r.(?) p.(Gly133Valfs*15) Both (homozygous) - pathogenic g.127894710del g.128254657del 398delG - LEP_000010 - PubMed: Saeed 2012 - - Germline - - - - - DNA SEQ - - obesity 22463805-Pat30 PubMed: Saeed 2012 family, 1 affected, unaffected heterozygous carrier parents (first cousin) M yes Pakistan Punjab (Arain) - - - - 1 Johan den Dunnen
+/. 3 c.398del r.(?) p.(Gly133Valfs*15) Both (homozygous) - pathogenic g.127894710del g.128254657del 398delG - LEP_000010 - PubMed: Saeed 2012 - - Germline - - - - - DNA SEQ - - obesity 22463805-Pat53 PubMed: Saeed 2012 family, 1 affected, unaffected heterozygous carrier parents (first cousin) F yes Pakistan Punjab (Arain) - - - - 1 Johan den Dunnen
+/. 3 c.398del r.(?) p.(Gly133Valfs*15) Both (homozygous) - pathogenic g.127894710del g.128254657del 398delG - LEP_000010 - PubMed: Saeed 2012 - - Germline - - - - - DNA SEQ - - obesity 22463805-Pat56 PubMed: Saeed 2012 family, 1 affected, unaffected heterozygous carrier parents (first cousin) F yes Pakistan Punjab (Arain) - - - - 1 Johan den Dunnen
+/. 3 c.398del r.(?) p.(Gly133Valfs*15) Both (homozygous) - pathogenic g.127894710del g.128254657del 398delG - LEP_000010 - PubMed: Saeed 2012 - - Germline - - - - - DNA SEQ - - obesity 22463805-Pat60 PubMed: Saeed 2012 family, 1 affected, unaffected heterozygous carrier parents (first cousin) M yes Pakistan Punjab (Arain) - - - - 1 Johan den Dunnen
+/. 3 c.398del r.(?) p.(Gly133Valfs*15) Both (homozygous) - pathogenic g.127894710del g.128254657del 398delG - LEP_000010 - PubMed: Saeed 2012 - - Germline - - - - - DNA SEQ - - obesity 22463805-Pat62 PubMed: Saeed 2012 family, 1 affected, unaffected heterozygous carrier parents (first cousin) F yes Pakistan Punjab (Arain) - - - - 1 Johan den Dunnen
+/. 3 c.398del r.(?) p.(Gly133Valfs*15) Both (homozygous) - pathogenic g.127894710del g.128254657del 398delG - LEP_000010 - PubMed: Saeed 2015 - - Germline - - - - - DNA SEQ - - obesity 26179253-Fams PubMed: Saeed 2015 3 families, unaffected heterozygous carrier parents - yes Pakistan Punjab - - - - 3 Johan den Dunnen
-?/. - c.468C>T r.(?) p.(Asp156=) Unknown - likely benign g.127894780C>T - LEP(NM_000230.2):c.468C>T (p.D156=) - LEP_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.496G>C r.(?) p.(Gly166Arg) Unknown - VUS g.127894808G>C g.128254755G>C LEP(NM_000230.2):c.496G>C (p.G166R), LEP(NM_000230.3):c.496G>C (p.G166R) - LEP_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.496G>C r.(?) p.(Gly166Arg) Unknown - VUS g.127894808G>C - LEP(NM_000230.2):c.496G>C (p.G166R), LEP(NM_000230.3):c.496G>C (p.G166R) - LEP_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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