All variants in the LHFPL1 gene

Information The variants shown are described using the NM_178175.3 transcript reference sequence.

6 entries on 1 page. Showing entries 1 - 6.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
-?/. - c.369G>A r.(?) p.(Ala123=) - likely benign g.111914250C>T - LHFPL1(NM_178175.3):c.369G>A (p.A123=) - LHFPL1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.375T>C r.(=) p.(=) - likely benign g.111914244A>G g.112671016A>G F125F - LHFPL1_000005 recurrent, found 12 times PubMed: Tarpey 2009 - - Germline - 12/208 cases - 0 - Lucy Raymond
?/. - c.466A>G r.(?) p.(Asn156Asp) - VUS g.111903870T>C g.112660642T>C LHFPL1(NM_178175.3):c.466A>G (p.(Asn156Asp)) - LHFPL1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.482-7C>T r.(=) p.(=) - VUS g.111874836G>A g.112631608G>A LHFPL1(NM_178175.3):c.482-7C>T (p.(=)) - LHFPL1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.*382T>C r.(=) p.(=) - VUS g.111874266A>G g.112631038A>G - - LHFPL1_000001 - - - - Germline - - - - - Yu Sun
?/. - c.*382T>C r.(=) p.(=) - VUS g.111874266A>G g.112631038A>G - - LHFPL1_000001 - - - - Germline - - - - - Yu Sun
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