Unique variants in the FRMPD3 gene

Information The variants shown are described using the NM_032428.1 transcript reference sequence.

30 entries on 1 page. Showing entries 1 - 30.
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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.1A>G r.(?) p.? - VUS g.106765680A>G - FRMPD3(NM_032428.2):c.1A>G (p.M1?) - FRMPD3_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.114C>T r.(?) p.(Ser38=) - likely benign g.106769833C>T - FRMPD3(NM_032428.2):c.114C>T (p.S38=) - FRMPD3_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.175C>T r.(?) p.(Arg59Ter) - VUS g.106769894C>T g.107526664C>T FRMPD3(XM_042978.7):c.175C>T (p.(Arg26Ter)) - FRMPD3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.455T>C r.(?) p.(Val152Ala) - likely benign g.106789025T>C g.107545795T>C FRMPD3(NM_032428.2):c.455T>C (p.V152A) - FRMPD3_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1598G>A r.(?) p.(Ser533Asn) - likely benign g.106840608G>A g.107597378G>A FRMPD3(NM_032428.2):c.1598G>A (p.S533N) - FRMPD3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1637C>T r.(?) p.(Ser546Leu) - likely benign g.106840647C>T - FRMPD3(NM_032428.2):c.1637C>T (p.S546L) - FRMPD3_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1740C>T r.(?) p.(Asn580=) - likely benign g.106840750C>T - FRMPD3(NM_032428.2):c.1740C>T (p.N580=) - FRMPD3_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2183G>A r.(?) p.(Arg728His) - VUS g.106841193G>A - FRMPD3(NM_032428.2):c.2183G>A (p.R728H) - FRMPD3_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2530C>T r.(?) p.(Arg844Cys) - VUS g.106843700C>T g.107600470C>T FRMPD3(XM_042978.7):c.2665C>T (p.(Arg889Cys)) - FRMPD3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.2603G>A r.(?) p.(Arg868His) - likely benign g.106843773G>A g.107600543G>A FRMPD3(NM_032428.2):c.2603G>A (p.R868H) - FRMPD3_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2659C>G r.(?) p.(Pro887Ala) - likely benign g.106843829C>G g.107600599C>G FRMPD3(XM_042978.7):c.2560C>G (p.(Pro854Ala)) - FRMPD3_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.2814C>T r.(?) p.(His938=) - likely benign g.106843984C>T - FRMPD3(NM_032428.2):c.2814C>T (p.H938=) - FRMPD3_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2974G>T r.(?) p.(Ala992Ser) - likely benign g.106844144G>T - FRMPD3(NM_032428.2):c.2974G>T (p.A992S) - FRMPD3_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.3125T>C r.(?) p.(Phe1042Ser) - likely benign g.106844295T>C - FRMPD3(NM_032428.2):c.3125T>C (p.F1042S) - FRMPD3_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., ?/. 2 - c.3157T>A r.(?) p.(Trp1053Arg) - likely benign, 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 - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/. 1 - c.3638G>A r.(?) p.(Arg1213Gln) - likely benign g.106844808G>A g.107601578G>A FRMPD3(NM_032428.2):c.3638G>A (p.R1213Q) - FRMPD3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.3725C>T r.(?) p.(Ser1242Leu) - likely benign g.106844895C>T g.107601665C>T FRMPD3(NM_032428.2):c.3725C>T (p.S1242L) - FRMPD3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.3893C>T r.(?) p.(Thr1298Ile) - likely benign g.106845063C>T g.107601833C>T FRMPD3(NM_032428.2):c.3893C>T (p.T1298I) - FRMPD3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.3899A>G r.(?) p.(Tyr1300Cys) - likely benign g.106845069A>G g.107601839A>G FRMPD3(NM_032428.2):c.3899A>G (p.Y1300C) - FRMPD3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.3941G>A r.(?) p.(Arg1314His) - benign g.106845111G>A g.107601881G>A FRMPD3(NM_032428.2):c.3941G>A (p.R1314H) - FRMPD3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.4167C>G r.(?) p.(Ser1389Arg) - VUS g.106845337C>G g.107602107C>G FRMPD3(XM_042978.7):c.4068C>G (p.(Ser1356Arg)) - FRMPD3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.4175C>T r.(?) p.(Ser1392Phe) - VUS g.106845345C>T g.107602115C>T FRMPD3(XM_042978.7):c.4310C>T (p.(Ser1359Phe)) - FRMPD3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.4319C>T r.(?) p.(Ser1440Leu) - likely benign g.106845489C>T g.107602259C>T FRMPD3(XM_042978.7):c.4220C>T (p.(Ser1407Leu)) - FRMPD3_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.4679G>C r.(?) p.(Gly1560Ala) - likely benign g.106845849G>C g.107602619G>C FRMPD3(XM_042978.7):c.4814G>C (p.(Gly1527Ala)) - FRMPD3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.4795C>T r.(?) p.(Arg1599Cys) - VUS g.106845965C>T g.107602735C>T FRMPD3(NM_032428.2):c.4795C>T (p.R1599C) - FRMPD3_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.4796G>A r.(?) p.(Arg1599His) - VUS g.106845966G>A g.107602736G>A FRMPD3(XM_042978.7):c.4697G>A (p.(Arg1566His)) - FRMPD3_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.4932C>T r.(?) p.(Ser1644=) - likely benign g.106846102C>T g.107602872C>T FRMPD3(NM_032428.2):c.4932C>T (p.S1644=) - FRMPD3_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.5029C>T r.(?) p.(Arg1677Cys) - VUS g.106846199C>T g.107602969C>T FRMPD3(NM_032428.2):c.5029C>T (p.R1677C), FRMPD3(XM_042978.7):c.5164C>T (p.(Arg1644Cys)) - FRMPD3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
?/. 1 - c.5292_5293insTAG r.(?) p.(Gln1765Ter) - VUS g.106846462_106846463insTAG g.107603232_107603233insTAG FRMPD3(XM_042978.7):c.5425_5426insAGT (p.(Gln1731_Gln1732insTer)) - FRMPD3_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/., ?/. 2 - c.5381C>T r.(?) p.(Ser1794Leu) - likely benign, VUS g.106846551C>T g.107603321C>T FRMPD3(NM_032428.2):c.5381C>T (p.S1794L), FRMPD3(XM_042978.7):c.5516C>T (p.(Ser1839Leu)) - FRMPD3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
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