Full data view for gene FRRS1L

Information The variants shown are described using the NM_014334.2 transcript reference sequence.

15 entries on 1 page. Showing entries 1 - 15.
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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.91G>A r.(?) p.(Ala31Thr) Unknown - likely benign g.111929481C>T - FRRS1L(NM_014334.3):c.91G>A (p.A31T) - EPB41L4B_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.285A>C r.(?) p.(Gly95=) Unknown - VUS g.111929287T>G - FRRS1L(NM_014334.3):c.285A>C (p.G95=) - EPB41L4B_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.436dup r.(?) p.(Ile146Asnfs*10) Both (homozygous) - pathogenic g.111911959dup g.109149679dup - - FRRS1L_000004 - PubMed: Madeo 2016, Journal: Madeo 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - EIEE 272369174Fam4PatII2 PubMed: Madeo 2016, Journal: Madeo 2016 Unaffected sister, complicated pregnancy by gestational diabetes, was born at term by caesarean section F yes Morocco Morrocan - - - - 1 Jamie Zeegers
+?/. - c.436dup r.(?) p.(Ile146AsnfsTer10) Unknown - likely pathogenic g.111911959dup g.109149679dup FRRS1L(NM_014334.4):c.283dupA (p.I95Nfs*10) - FRRS1L_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.465G>A r.(?) p.(Lys155=) Unknown - likely benign g.111911927C>T g.109149647C>T FRRS1L(NM_014334.3):c.465G>A (p.K155=) - FRRS1L_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 4 c.737_739del r.(?) p.(Gly246del) Both (homozygous) - likely pathogenic g.111903748_111903750del g.109141468_109141470del - - FRRS1L_000003 - PubMed: Madeo 2016, Journal: Madeo 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - EIEE 272369173-Fam3PatII1 PubMed: Madeo 2016, Journal: Madeo 2016 Only child with healthy parents F no - Puerto Rican - - - - 1 Jamie Zeegers
+/. 4 c.845G>A r.(?) p.(Trp282*) Both (homozygous) - pathogenic g.111903640C>T g.109141360C>T - - FRRS1L_000002 - PubMed: Madeo 2016, Journal: Madeo 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - EIEE 272369172-Fam2PatII1 PubMed: Madeo 2016, Journal: Madeo 2016 Only child with healthy parents F no - European, mixed - - - - 1 Jamie Zeegers
?/. - c.893C>T r.(?) p.(Pro298Leu) Unknown - VUS g.111899877G>A - FRRS1L(NM_014334.4):c.740C>T (p.(Pro247Leu)) - FRRS1L_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.908G>A r.(?) p.(Arg303His) Unknown - likely benign g.111899862C>T - FRRS1L(NM_014334.3):c.908G>A (p.R303H) - FRRS1L_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.961C>T r.(?) p.(Gln321*) Both (homozygous) - pathogenic g.111899809G>A g.109137529G>A - - FRRS1L_000001 - PubMed: Madeo 2016, Journal: Madeo 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - EIEE 272369171-Fam1PatII1 PubMed: Madeo 2016, Journal: Madeo 2016 Family, 5-affected siblings, PatII1 F yes - Saudi Arabia - - - - 1 Jamie Zeegers
+/. 5 c.961C>T r.(?) p.(Gln321*) Both (homozygous) - pathogenic g.111899809G>A g.109137529G>A - - FRRS1L_000001 - PubMed: Madeo 2016, Journal: Madeo 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - EIEE - PubMed: Madeo 2016, Journal: Madeo 2016 Family, 5-affected siblings, PatII2 F yes - Saudi Arabia 16y - - - 1 Jamie Zeegers
+/. 5 c.961C>T r.(?) p.(Gln321*) Both (homozygous) - pathogenic g.111899809G>A g.109137529G>A - - FRRS1L_000001 - PubMed: Madeo 2016, Journal: Madeo 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - EIEE 272369171-Fam1PatII3 PubMed: Madeo 2016, Journal: Madeo 2016 Family, 5-affected siblings, PatII3 M yes - Saudi Arabia - - - - 1 Jamie Zeegers
+/. 5 c.961C>T r.(?) p.(Gln321*) Both (homozygous) - pathogenic g.111899809G>A g.109137529G>A - - FRRS1L_000001 - PubMed: Madeo 2016, Journal: Madeo 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - EIEE 272369171-Fam1PatII4 PubMed: Madeo 2016, Journal: Madeo 2016 Family, 5-affected siblings, PatII4 M yes Saudi Arabia - - - - - 1 Jamie Zeegers
+/. 5 c.961C>T r.(?) p.(Gln321*) Both (homozygous) - pathogenic g.111899809G>A g.109137529G>A - - FRRS1L_000001 - PubMed: Madeo 2016, Journal: Madeo 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - EIEE - PubMed: Madeo 2016, Journal: Madeo 2016 Family, 5-affected siblings, PatII5 M yes Saudi Arabia - - - - - 1 Jamie Zeegers
?/. - c.1013A>G r.(?) p.(Tyr338Cys) Unknown - VUS g.111899757T>C - FRRS1L(NM_014334.4):c.860A>G (p.Y287C) - FRRS1L_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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