All variants in the BTD gene

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

2 entries on 1 page. Showing entries 1 - 2.
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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.701C>T r.(?) p.(Thr234Ile) - VUS g.15686064C>T g.15644557C>T BTD(NM_000060.4):c.701C>T (p.T234I) - BTD_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+?/. - c.701C>T r.(?) p.(Thr234Ile) - likely pathogenic g.15686064C>T g.15644557C>T - - BTD_000132 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs587783005 Germline - 1/2795 individuals - 0 - Mohammed Faruq
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