All variants in the BTD gene

Information The variants shown are described using the NM_000060.2 transcript reference sequence.

16 entries on 1 page. Showing entries 1 - 16.
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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     
?/? 4 c.511G>A r.(?) p.(Ala171Thr) - VUS g.15685874G>A g.15644367G>A - - BTD_000076 - - - rs13073139 Germline - - - 0 - Jasper Saris
+/. 4 c.511G>A r.(?) p.(Ala171Thr) - pathogenic g.15685874G>A g.15644367G>A - - BTD_000076 - PubMed: Norrgard 1997 - rs13073139 Germline - - - 0 - Jasper Saris
?/. 4 c.511G>A r.(?) p.(Ala171Thr) - pathogenic g.15685874G>A g.15644367G>A - - BTD_000076 - PubMed: Wiltink 2016 - rs13073139 Germline - - - 0 - Jasper Saris
?/. 4 c.511G>A r.(?) p.(Ala171Thr) - pathogenic g.15685874G>A g.15644367G>A - - BTD_000076 - PubMed: Wiltink 2016 - rs13073139 Germline - - - 0 - Jasper Saris
?/. 4 c.511G>A r.(?) p.(Ala171Thr) - pathogenic g.15685874G>A g.15644367G>A - - BTD_000076 - PubMed: Wiltink 2016 - rs13073139 Germline - - - 0 - Jasper Saris
?/. 4 c.511G>A r.(?) p.(Ala171Thr) - pathogenic g.15685874G>A g.15644367G>A - - BTD_000076 - PubMed: Wiltink 2016 - rs13073139 Germline - - - 0 - Jasper Saris
?/. 4 c.511G>A r.(?) p.(Ala171Thr) - pathogenic g.15685874G>A g.15644367G>A - - BTD_000076 - PubMed: Wiltink 2016 - rs13073139 Germline - - - 0 - Jasper Saris
?/. 4 c.511G>A r.(?) p.(Ala171Thr) - pathogenic g.15685874G>A g.15644367G>A - - BTD_000076 - PubMed: Wiltink 2016 - rs13073139 Germline - - - 0 - Jasper Saris
?/. 4 c.511G>A r.(?) p.(Ala171Thr) - pathogenic g.15685874G>A g.15644367G>A - - BTD_000076 - PubMed: Wiltink 2016 - rs13073139 Germline - - - 0 - Jasper Saris
?/. 4 c.511G>A r.(?) p.(Ala171Thr) - pathogenic g.15685874G>A g.15644367G>A - - BTD_000076 - PubMed: Wiltink 2016 - rs13073139 Germline - - - 0 - Jasper Saris
?/. 4 c.511G>A r.(?) p.(Ala171Thr) - pathogenic g.15685874G>A g.15644367G>A - - BTD_000076 - PubMed: Wiltink 2016 - rs13073139 Germline - - - 0 - Jasper Saris
?/. 4 c.511G>A r.(?) p.(Ala171Thr) - pathogenic g.15685874G>A g.15644367G>A - - BTD_000076 - PubMed: Wiltink 2016 - rs13073139 Germline - - - 0 - Jasper Saris
?/. 4 c.511G>A r.(?) p.(Ala171Thr) - pathogenic g.15685874G>A g.15644367G>A - - BTD_000076 - PubMed: Wiltink 2016 - rs13073139 Germline - - - 0 - Jasper Saris
?/. 4 c.511G>A r.(?) p.(Ala171Thr) - pathogenic g.15685874G>A g.15644367G>A - - BTD_000076 - PubMed: Wiltink 2016 - rs13073139 Germline - - - 0 - Jasper Saris
+/. - c.511G>A r.(?) p.(Ala171Thr) - pathogenic g.15685874G>A g.15644367G>A BTD(NM_000060.4):c.511G>A (p.A171T) - BTD_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.511G>A r.(?) p.(Ala171Thr) - pathogenic g.15685874G>A - BTD(NM_000060.4):c.511G>A (p.A171T) - BTD_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
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