All variants in the NR1H4 gene

Information The variants shown are described using the NM_001206977.1 transcript reference sequence.

4 entries on 1 page. Showing entries 1 - 4.
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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.79+1G>T r.spl? p.? - likely pathogenic g.100887181G>T g.100493403G>T NR1H4(NM_001206977.2):c.79+1G>T - NR1H4_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.518T>C r.(?) p.(Met173Thr) - likely benign g.100926308T>C g.100532530T>C - - NR1H4_000003 20 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs61755050 Germline - 20/2794 individuals - 0 - Mohammed Faruq
+/. - c.644del r.(?) p.(Asn215MetfsTer2) - pathogenic g.100928713del g.100534935del NR1H4(NM_001206977.2):c.644delA (p.N215Mfs*2) - NR1H4_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.1004G>C r.(?) p.(Arg335Pro) - VUS g.100934522G>C - NR1H4(NM_005123.4):c.992G>C (p.R331P) - NR1H4_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
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