Full data view for gene LHFPL5

Information The variants shown are described using the NM_182548.3 transcript reference sequence.

27 entries on 1 page. Showing entries 1 - 27.
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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     
+/+ 1 c.1A>G r.(?) p.(Met1?) Parent #1 - pathogenic g.35773448A>G g.35805671A>G - - LHFPL5_000008 - MORL Deafness Variation Database, PubMed: Shahin 2010 - - SUMMARY record - - - - - DNA ? - - HL - PubMed: Shahin 2010 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.43C>T r.(?) p.(His15Tyr) Unknown - VUS g.35773490C>T g.35805713C>T LHFPL5(NM_182548.4):c.43C>T (p.H15Y) - LHFPL5_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.43C>T r.(?) p.(His15Tyr) Both (homozygous) - VUS g.35773490C>T - H15Y - LHFPL5_000003 - PubMed: Taghipour-Sheshdeh 2019 - - Germline - - - - - DNA SEQ, SEQ-NG Blood Otogenetics Deafness Panel DFNB49 FamPat22 PubMed: Taghipour-Sheshdeh 2019 5-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives M yes Iran Arab - - - - 3 Yacouba Dia
?/. - c.59G>A r.(?) p.(Arg20Gln) Unknown - VUS g.35773506G>A g.35805729G>A LHFPL5(NM_182548.4):c.59G>A (p.R20Q) - LHFPL5_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.83T>A r.(?) p.(Met28Lys) Unknown - VUS g.35773530T>A - - - LHFPL5_000018 - - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 1 c.89dup r.(?) p.(Thr31Tyrfs*41) Parent #1 - pathogenic g.35773536dup g.35805759dup - - LHFPL5_000009 - MORL Deafness Variation Database, PubMed: Bensaïd 2011 - - SUMMARY record - - - - - DNA ? - - HL - PubMed: Bensaïd 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.105C>A r.(?) p.(Cys35Ter) Unknown - pathogenic g.35773552C>A g.35805775C>A LHFPL5(NM_182548.4):c.105C>A (p.C35*) - LHFPL5_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.185del r.(?) p.(Phe62Serfs*23) Both (homozygous) - likely pathogenic g.35773632del g.35805855del 185delT - LHFPL5_000002 - under review - - Germline yes 0.0095 Reunion Island - - - DNA SEQ-NG blood - DFNB67 - - Article under review F no France Reunion Island 17y - - cochlear implant 1 Justine Lerat
?/? 1 c.214G>A r.(?) p.(Val72Met) Parent #1 - VUS g.35773661G>A g.35805884G>A - - LHFPL5_000010 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 1 c.250del r.(?) p.(Leu84*) Parent #1 - pathogenic g.35773697del g.35805920del - - LHFPL5_000011 - MORL Deafness Variation Database, PubMed: Shabbir 2006 - - SUMMARY record - - - - - DNA ? - - HL - PubMed: Shabbir 2006 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.250del r.(?) p.(Leu84Ter) Both (homozygous) - pathogenic (recessive) g.35773697del g.35805920del 250delC - LHFPL5_000011 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL PKDF1311 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.250del r.(?) p.(Leu84Ter) Both (homozygous) - pathogenic (recessive) g.35773697del g.35805920del 250delC - LHFPL5_000011 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL PKDF1549 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/+ 1 c.262_264del r.(?) p.(Ser88del) Parent #1 - pathogenic g.35773709_35773711del g.35805932_35805934del - - LHFPL5_000012 - MORL Deafness Variation Database - - SUMMARY record - - - - - DNA ? - - HL - - - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.311G>A r.(?) p.(Gly104Asp) Unknown - VUS g.35773758G>A g.35805981G>A - - LHFPL5_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.322A>C r.(?) p.(Ile108Leu) Unknown - likely benign g.35773769A>C g.35805992A>C LHFPL5(NM_182548.4):c.322A>C (p.I108L) - LHFPL5_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 1 c.380A>G r.(?) p.(Tyr127Cys) Parent #1 - pathogenic g.35773827A>G g.35806050A>G - - LHFPL5_000013 - MORL Deafness Variation Database, PubMed: Shabbir 2006, PubMed: Shearer 1993 - - SUMMARY record - - - - - DNA ? - - HL - PubMed: Shabbir 2006, PubMed: Shearer 1993 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.380A>G r.(?) p.(Tyr127Cys) Parent #1 - pathogenic g.35773827A>G g.35806050A>G - - LHFPL5_000013 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs104893975 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.452G>T r.(?) p.(Gly151Val) Both (homozygous) ACMG likely pathogenic (recessive) g.35782362G>T g.35814585G>T - - LHFPL5_000020 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL PKDF1178 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
?/? 2 c.476G>A r.(?) p.(Arg159His) Parent #1 - VUS g.35782386G>A g.35814609G>A - - LHFPL5_000014 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 2 c.494C>T r.(?) p.(Thr165Met) Parent #1 - pathogenic g.35782404C>T g.35814627C>T - - LHFPL5_000015 - MORL Deafness Variation Database, PubMed: Shearer 1993, PubMed: Kalay 2006 - - SUMMARY record - - - - - DNA ? - - HL - PubMed: Shearer 1993, PubMed: Kalay 2006 - - - - - - - - - 1 Global Variome, with Curator vacancy
+?/. - c.494C>T r.(?) p.(Thr165Met) Unknown - likely pathogenic g.35782404C>T - - - LHFPL5_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.517T>A r.(?) p.(Cys173Ser) Both (homozygous) - pathogenic (recessive) g.35782427T>A g.35814650T>A 518T>A (Cys173Ser) - LHFPL5_000019 - PubMed: Ammar-Khodja 2015 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES HL Fam5 PubMed: Ammar-Khodja 2015 5-generation family, 4 affected sibs (F, 3M), unaffected heterozygous parents/relatives F;M yes Algeria - - - - - 4 Johan den Dunnen
?/. - c.527G>T r.(?) p.(Arg176Leu) Unknown - VUS g.35782437G>T g.35814660G>T - - LHFPL5_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.527G>T r.(?) p.(Arg176Leu) Unknown - VUS g.35782437G>T - - - LHFPL5_000006 - - - rs774466373 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.533C>T r.(?) p.(Ala178Val) Both (homozygous) - VUS g.35782443C>T g.35814666C>T - - LHFPL5_000021 ACMG PM1, PM2, PP3 PubMed: Khan 2024, Journal: Khan 2024 - - Germline - - - - - DNA SEQ-NG-I - - DFNB67 HLMS40 PubMed: Khan 2024, Journal: Khan 2024 - F yes Pakistan - - - - - 1 Hina Khan
?/? 2 c.638C>A r.(?) p.(Ala213Glu) Parent #1 - VUS g.35782548C>A g.35814771C>A - - LHFPL5_000016 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 2i c.649+1del r.spl? p.? Parent #1 - pathogenic g.35782560del g.35814783del - - LHFPL5_000017 - MORL Deafness Variation Database, PubMed: Kalay 2006 - - SUMMARY record - - - - - DNA ? - - HL - PubMed: Kalay 2006 - - - - - - - - - 1 Global Variome, with Curator vacancy
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