All variants in the FRMPD3 gene

Information The variants shown are described using the NM_032428.1 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.3157T>A r.(?) p.(Trp1053Arg) - VUS g.106844327T>A g.107601097T>A FRMPD3(NM_032428.2):c.3157T>A (p.W1053R), FRMPD3(XM_042978.7):c.3292T>A (p.(Trp1020Arg)) - FRMPD3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.3157T>A r.(?) p.(Trp1053Arg) - likely benign g.106844327T>A - FRMPD3(NM_032428.2):c.3157T>A (p.W1053R), FRMPD3(XM_042978.7):c.3292T>A (p.(Trp1020Arg)) - FRMPD3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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