Full data view for gene FAM46D

NOTE: gene name changed from FAM46D to TENT5D
Information The variants shown are described using the NM_001170574.1 transcript reference sequence.

5 entries on 1 page. Showing entries 1 - 5.
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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.278G>A r.(?) p.(Gly93Asp) Unknown - VUS g.79698316G>A g.80442817G>A FAM46D(NM_001170574.1):c.278G>A (p.(Gly93Asp)) - FAM46D_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.555C>G r.(?) p.(Asp185Glu) Parent #1 - VUS g.79698593C>G g.80443094C>G D185E - FAM46D_000005 recurrent, found 138 times PubMed: Tarpey 2009 - - Germline - 138/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 138 Lucy Raymond
-?/. - c.577A>G r.(?) p.(Lys193Glu) Unknown - likely benign g.79698615A>G g.80443116A>G FAM46D(NM_001170574.1):c.577A>G (p.(Lys193Glu)) - FAM46D_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.864C>A r.(?) p.(Phe288Leu) Unknown - VUS g.79698902C>A g.80443403C>A FAM46D(NM_001170574.1):c.864C>A (p.F288L) - FAM46D_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1129T>C r.(?) p.(Tyr377His) Unknown - likely benign g.79699167T>C g.80443668T>C FAM46D(NM_001170574.1):c.1129T>C (p.Y377H) - FAM46D_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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