Full data view for gene RCCD1

Information The variants shown are described using the NM_033544.2 transcript reference sequence.

6 entries on 1 page. Showing entries 1 - 6.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.-4974C>T r.(?) p.(=) Unknown - VUS g.91493412C>T - UNC45A(NM_018671.5):c.2102C>T (p.(Thr701Met), p.T701M) - HDDC3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4974C>T r.(?) p.(=) Unknown - VUS g.91493412C>T - UNC45A(NM_018671.5):c.2102C>T (p.(Thr701Met), p.T701M) - HDDC3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-2156G>A r.(?) p.(=) Unknown - VUS g.91496230G>A - UNC45A(NM_018671.5):c.2375G>A (p.(Arg792His)) - HDDC3_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-1871C>T r.(?) p.(=) Unknown - likely benign g.91496515C>T - UNC45A(NM_018671.3):c.2552C>T (p.(Thr851Met)) - HDDC3_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-1650C>G r.(?) p.(=) Unknown - likely benign g.91496736C>G - UNC45A(NM_001039675.1):c.2580C>G (p.(Asn860Lys)) - HDDC3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-1633G>A r.(?) p.(=) Unknown - VUS g.91496753G>A - UNC45A(NM_001039675.1):c.2597G>A (p.R866Q) - HDDC3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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