All variants in the BTD gene

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

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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.515A>G r.(?) p.(Asn172Ser) - pathogenic g.15685878A>G g.15644371A>G - - BTD_000077 - PubMed: Muhl 2001 - - Germline - - - 0 - Jasper Saris
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