Unique variants in gene UBFD1

Information The variants shown are described using the NM_019116.2 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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Effect     

Reported     

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     
./. 1 - c.-2038857_*5750334del r.0? p.0? - - g.21530207_29332245del g.21518886_29320924del - - CLN3_000009 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - Johan den Dunnen
+?/. 1 - c.-518C>T r.(?) p.(=) - likely pathogenic g.23568546C>T - - - EARS2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.-401A>T r.(?) p.(=) - pathogenic g.23568663A>T - EARS2(NM_001083614.1):c.2T>A (p.M1?) - EARS2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
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