All transcript variants in gene GFM1

Information The variants shown are described using the NM_024996.5 transcript reference sequence.

27 entries on 1 page. Showing entries 1 - 27.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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.-31A>G - r.(?) p.(=) g.158362393A>G g.158644604A>G - - GFM1_000003 - - - rs28372853 Germline - frequency up to 0.04 - 0 - Andreas Laner
-/. - c.18T>C benign r.(?) p.(=) g.158362441T>C - GFM1(NM_024996.5):c.18T>C (p.A6=) - GFM1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.127A>G likely benign r.(?) p.(Asn43Asp) g.158363463A>G - GFM1(NM_024996.5):c.127A>G (p.(Asn43Asp)) - GFM1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 2 c.139C>T pathogenic r.139c>u p.Arg47* g.158363475C>T g.158645686C>T - - GFM1_000007 - PubMed: Valente 2007, OMIM:var0002 - rs119470019 Germline yes - - 0 - Johan den Dunnen
+/. 4 c.521A>G pathogenic r.521a>g p.Asn174Ser g.158364685A>G g.158646896A>G - - GFM1_000006 not in 200 control chromosomes PubMed: Coenen 2004, OMIM:var0001 - rs119470018 Germline yes - MseI- 0 - Johan den Dunnen
+/. 4 c.539delG pathogenic r.(?) p.(Gly180Alafs*11) g.158364703del g.158646914del 539delG - GFM1_000011 - PubMed: Balasubramaniam 2012, Journal: Balasubramaniam 2012 - - Germline yes - - 0 - Johan den Dunnen
-/. - c.643G>A benign r.(?) p.(Val215Ile) g.158366900G>A - GFM1(NM_024996.5):c.643G>A (p.V215I) - GFM1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. 5 c.688G>A pathogenic r.(?) p.(Gly230Ser) g.158366945G>A g.158649156G>A - - GFM1_000012 - PubMed: Balasubramaniam 2012, Journal: Balasubramaniam 2012 - - Germline yes - - 0 - Johan den Dunnen
+/. 5i c.689+908G>A pathogenic (recessive) r.689_690ins689+848_689+904 p.Gly230_231Glnins19 g.158367854G>A g.158650065G>A 689+908G>A NM_001308164.1:c.746+4G>A - GFM1_000005 variant activates splice donor site cryptic exon (NM_001308164.1:c.746+4G>A), activating its inclusion in the major mRNA transcript PubMed: Simon 2017 - - Germline yes - - 0 - Mariella Simon
?/. 5i c.690-5C>G VUS r.spl? p.? g.158369880C>G g.158652091C>G - - GFM1_000001 - - 210958 rs201685981 Germline - - - 0 - Andreas Laner
+/. 6 c.720del pathogenic (recessive) r.(?) p.(Glu241Asnfs*2) g.158369915del g.158652126del 720delT - GFM1_000013 variant undetectable in mRNA PubMed: Calvo 2012 - - Germline - - - 0 - Mariella Simon
+/. 6 c.720del pathogenic r.(?) p.(Glu241Asnfs*2) g.158369915del g.158652126delT - - GFM1_000013 variant undetectable in mRNA PubMed: Calvo 2012, Journal: Calvo 2012 - - Germline - - - 0 - Johan den Dunnen
+/. 6 c.748C>T pathogenic (recessive) r.(?) p.(Arg250Trp) g.158369943C>T g.158652154C>T - - GFM1_000004 - PubMed: Simon 2017 30398 rs139430866 Germline yes - - 0 - Mariella Simon
+/. 6 c.748C>T pathogenic r.(?) p.(Arg250Trp) g.158369943C>T g.158652154C>T - - GFM1_000004 not in 200 control chromosomes; defect rescued by over-expressing normal GFM1 in patient fibroblasts PubMed: Smits 2011, Journal: Smits 2011, OMIM:var0004 - rs139430866 Germline - - - 0 - Johan den Dunnen
?/. - c.808G>A VUS r.(?) p.(Glu270Lys) g.158370003G>A - GFM1(NM_024996.5):c.808G>A (p.(Glu270Lys)) - GFM1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 7 c.910A>G - r.910a>g p.Lys304Glu g.158371168A>G g.158653379A>G - - GFM1_000015 father not available for analysis; protein blots showed reduced to absent levels of GFM1 protein in patient muscle and fibroblasts and reduced amounts of OXPHOS proteins COX2 and NDUFB8, indicating the variant causes protein instability leading to a defect in mtDNA translation and deficiency of complexes I, III and IV PubMed: Calvo 2012, Journal: Calvo 2012 - - Germline - - - 0 - Johan den Dunnen
+/. 7 c.961T>C pathogenic r.961u>c p.Ser321Pro g.158371219T>C g.158653430T>C - - GFM1_000009 - PubMed: Antonicka 2006 - - Germline yes - - 0 - Johan den Dunnen
-?/. 8i c.1083+89del - r.(?) p.(=) g.158372509del g.158654720del - - GFM1_000002 - - - - Germline - - - 0 - Andreas Laner
+/. 12 c.1487T>G pathogenic r.1487u>g p.Met496Arg g.158383232T>G g.158665443T>G - - GFM1_000008 - PubMed: Valente 2007, OMIM:var0003 - rs119470020 Germline yes - - 0 - Johan den Dunnen
-/. - c.1602-17dup benign r.(=) p.(=) g.158399767dup - GFM1(NM_024996.5):c.1602-17_1602-16insT - GFM1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. 14i c.1765-2_1765-1del pathogenic r.1765_1909del p.Gly589Profs*19 g.158402311_158402312del g.158684522_158684523del 1765-2_1765-1delAG - GFM1_000010 - PubMed: Antonicka 2006 - - Germline yes - - 0 - Johan den Dunnen
-?/. - c.1830C>T likely benign r.(?) p.(=) g.158402378C>T - GFM1(NM_024996.5):c.1830C>T (p.V610=) - GFM1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.1910-7A>T likely benign r.(=) p.(=) g.158407945A>T - GFM1(NM_024996.5):c.1910-7A>T (p.(=)) - GFM1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.1990G>A likely benign r.(?) p.(Val664Ile) g.158408032G>A - GFM1(NM_024996.5):c.1990G>A (p.(Val664Ile)) - GFM1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 16 c.2011C>T pathogenic r.2011c>u p.Arg671Cys g.158408053C>T g.158690264C>T - - GFM1_000014 protein blots showed reduced to absent levels of GFM1 protein in patient muscle and fibroblasts and reduced amounts of OXPHOS proteins COX2 and NDUFB8, indicating the variant causes protein instability leading to a defect in mtDNA translation and deficiency of complexes I, III and IV PubMed: Calvo 2012 214500 rs201408725 Germline - - - 0 - Mariella Simon
?/. - c.2051A>C VUS r.(?) p.(Tyr684Ser) g.158408093A>C - GFM1(NM_024996.5):c.2051A>C (p.(Tyr684Ser)) - GFM1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.*6C>T benign r.(=) p.(=) g.158409262C>T - GFM1(NM_024996.5):c.*6C>T - GFM1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
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