All variants in the NIPBL gene

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

4 entries on 1 page. Showing entries 1 - 4.
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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.1495+8_1495+10del r.(=) p.(=) - - likely benign g.36976512_36976514del g.36976410_36976412del NIPBL(NM_015384.4):c.1495+5_1495+7del (p.?), NIPBL(NM_015384.4):c.1495+8_1495+10delAAT, NIPBL(NM_133433.4):c.1495+8_1495+10delAAT - NIPBL_000306 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-/. 9i c.1495+8_1495+10del r.(?) p.(?) - - benign g.36976512_36976514del g.36976410_36976412del 1495+8_1495+10delAAT - NIPBL_000219 not pathogenic, inherited from unaffected father Redeker (unpublished) - - Germline - - - 0 - Bert Redeker
-?/. - c.1495+8_1495+10del r.(=) p.(=) - - likely benign g.36976512_36976514del g.36976410_36976412del NIPBL(NM_015384.4):c.1495+5_1495+7del (p.?), NIPBL(NM_015384.4):c.1495+8_1495+10delAAT, NIPBL(NM_133433.4):c.1495+8_1495+10delAAT - NIPBL_000219 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1495+8_1495+10del r.(=) p.(=) - - likely benign g.36976512_36976514del - NIPBL(NM_015384.4):c.1495+5_1495+7del (p.?), NIPBL(NM_015384.4):c.1495+8_1495+10delAAT, NIPBL(NM_133433.4):c.1495+8_1495+10delAAT - NIPBL_000219 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
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