Full data view for gene FRA10AC1

Information The variants shown are described using the NM_145246.4 transcript reference sequence.

24 entries on 1 page. Showing entries 1 - 24.
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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     
+/. _1_4i c.-6018_220-737delinsGTGTACTAA r.0 p.0 Both (homozygous) - pathogenic (recessive) g.95455431_95468149delinsTTAGTACAC g.93695674_93708392delinsTTAGTACAC del ex1-4 - FRA10AC1_000002 - PubMed: Banka 2022 - - Germline - - - - - DNA arrayCGH, PCR, SEQ - - NDD Fam2Pat1 PubMed: Banka 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. _1_2i c.-543_77+32del r.0? p.0? Both (homozygous) - pathogenic (recessive) g.95459757_95462676del g.93700000_93702919del - - FRA10AC1_000004 - PubMed: von Elsner 2022 - - Germline - - - - - DNA PCR, SEQ, SEQ-NG - WES NDD Fam1Pat1 PubMed: von Elsner 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents (first degree cousins) F yes - Arab - - - - 1 Johan den Dunnen
-?/. - c.78G>C r.(?) p.(Arg26Ser) Unknown - likely benign g.95458153C>G - FRA10AC1(NM_145246.5):c.78G>C (p.(Arg26Ser)) - FRA10AC1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.328C>T r.(?) p.(Arg110*) Both (homozygous) - pathogenic (recessive) g.95452455G>A g.93692698G>A - - FRA10AC1_000001 - PubMed: Banka 2022 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES NDD Fam1Pat1 PubMed: Banka 2022 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F yes United Kingdom (Great Britain) - - - - - 2 Johan den Dunnen
+/. - c.328C>T r.(?) p.(Arg110*) Both (homozygous) - pathogenic (recessive) g.95452455G>A g.93692698G>A - - FRA10AC1_000001 - PubMed: Banka 2022 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES NDD Fam1Pat2 PubMed: Banka 2022 sister F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.481C>T r.(?) p.(Arg161*) Both (homozygous) - pathogenic (recessive) g.95447191G>A g.93687434G>A - - FRA10AC1_000003 - PubMed: Alsaleh 2022 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES NDD family PubMed: Alsaleh 2022 4-generation family, 2 affected sibs (F, M), unaffected heterozygous carrier parents/relatives F;M - Saudi Arabia - - - - - 2 Johan den Dunnen
+/. - c.494_496del r.(?) p.(Glu165del) Both (homozygous) - pathogenic (recessive) g.95447179_95447181del g.93687422_93687424del - - FRA10AC1_000005 - PubMed: von Elsner 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam3Pat3-1 PubMed: von Elsner 2022 2-generation family, 3 affected brothers, unaffected heterozygous carrier parents (2nd degree cousins) M yes Egypt Arab - - - - 3 Johan den Dunnen
+/. - c.494_496del r.(?) p.(Glu165del) Both (homozygous) - pathogenic (recessive) g.95447179_95447181del g.93687422_93687424del - - FRA10AC1_000005 - PubMed: von Elsner 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam3Pat3-2 PubMed: von Elsner 2022 brother M yes Egypt Arab - - - - 1 Johan den Dunnen
+/. - c.494_496del r.(?) p.(Glu165del) Both (homozygous) - pathogenic (recessive) g.95447179_95447181del g.93687422_93687424del - - FRA10AC1_000005 - PubMed: von Elsner 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam3Pat3-3 PubMed: von Elsner 2022 brother M yes Egypt Arab - - - - 1 Johan den Dunnen
?/. - c.550G>C r.(?) p.(Glu184Gln) Unknown - VUS g.95445078C>G g.93685321C>G - - FRA10AC1_000007 gene related to recessive neurodevelopmental disorders; variant in low expressed isoform PubMed: Bayam 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam4PatII1 PubMed: Bayam 2024 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F yes Italy Cilento - - - - 1 Johan den Dunnen
?/. - c.550G>C r.(?) p.(Glu184Gln) Unknown - VUS g.95445078C>G g.93685321C>G - - FRA10AC1_000007 gene related to recessive neurodevelopmental disorders; variant in low expressed isoform PubMed: Bayam 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam4PatII3 PubMed: Bayam 2024 sister F yes Italy Cilento - - - - 1 Johan den Dunnen
+/. - c.561_562insTTTA r.(?) p.(Ser188PhefsTer6) Both (homozygous) - pathogenic (recessive) g.95445066_95445067insTAAA g.93685309_93685310insTAAA - - FRA10AC1_000006 - PubMed: von Elsner 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam2Pat2 PubMed: von Elsner 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents (first degree cousins) F yes - Arab - - - - 1 Johan den Dunnen
-?/. - c.*6654C>T r.(=) p.(=) Unknown - likely benign g.95422929G>A g.93663172G>A PDE6C(NM_006204.3):c.2512G>A (p.E838K) - PDE6C_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*6665T>C r.(=) p.(=) Unknown - likely benign g.95422918A>G g.93663161A>G PDE6C(NM_006204.3):c.2501A>G (p.E834G), PDE6C(NM_006204.4):c.2501A>G (p.E834G) - PDE6C_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*6665T>C r.(=) p.(=) Unknown - VUS g.95422918A>G g.93663161A>G PDE6C(NM_006204.3):c.2501A>G (p.E834G), PDE6C(NM_006204.4):c.2501A>G (p.E834G) - PDE6C_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*6685T>C r.(=) p.(=) Unknown - benign g.95422898A>G g.93663141A>G PDE6C(NM_006204.4):c.2481A>G (p.E827=) - PDE6C_000157 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*6689A>G r.(=) p.(=) Unknown - likely benign g.95422894T>C g.93663137T>C PDE6C(NM_006204.4):c.2477T>C (p.I826T) - PDE6C_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*6700C>T r.(=) p.(=) Unknown - benign g.95422883G>A g.93663126G>A PDE6C(NM_006204.3):c.2466G>A (p.K822=), PDE6C(NM_006204.4):c.2466G>A (p.K822=) - PDE6C_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*6700C>T r.(=) p.(=) Unknown - benign g.95422883G>A g.93663126G>A PDE6C(NM_006204.3):c.2466G>A (p.K822=), PDE6C(NM_006204.4):c.2466G>A (p.K822=) - PDE6C_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*6741T>G r.(=) p.(=) Unknown - benign g.95422842A>C g.93663085A>C PDE6C(NM_006204.3):c.2425A>C (p.R809=), PDE6C(NM_006204.4):c.2425A>C (p.R809=) - PDE6C_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*6741T>G r.(=) p.(=) Unknown - likely benign g.95422842A>C g.93663085A>C PDE6C(NM_006204.3):c.2425A>C (p.R809=), PDE6C(NM_006204.4):c.2425A>C (p.R809=) - PDE6C_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*6777C>T r.(=) p.(=) Unknown - VUS g.95422806G>A g.93663049G>A PDE6C(NM_006204.4):c.2389G>A (p.E797K) - PDE6C_000158 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*6780T>C r.(=) p.(=) Unknown - likely benign g.95422803A>G - PDE6C(NM_006204.3):c.2386A>G (p.K796E) - PDE6C_000159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*6788C>T r.(=) p.(=) Unknown - VUS g.95422795G>A g.93663038G>A - - PDE6C_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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