All variants in the NIPBL gene

Information The variants shown are described using the NM_133433.3 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Predict/PolyPhenScore     

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.507G>T r.(?) p.(Gln169His) - - VUS g.36962273G>T g.36962171G>T NIPBL(NM_015384.4):c.507G>T (p.(Gln169His), p.Q169H) - NIPBL_000304 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.507G>T r.(?) p.(Gln169His) - - VUS g.36962273G>T - NIPBL(NM_015384.4):c.507G>T (p.(Gln169His), p.Q169H) - NIPBL_000304 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
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