Full data view for gene FRMD4A

Information The variants shown are described using the NM_018027.3 transcript reference sequence.

27 entries on 1 page. Showing entries 1 - 27.
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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.111+7C>T r.(=) p.(=) Unknown - likely benign g.13900840G>A - FRMD4A(NM_001318337.1):c.210+7C>T - FRMD4A_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.112-7C>T r.(=) p.(=) Unknown - likely benign g.13852915G>A g.13810915G>A FRMD4A(NM_018027.5):c.112-7C>T - FRMD4A_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.760-229A>C r.(=) p.(=) Unknown - likely benign g.13749342T>G - FRMD4A(NM_001318338.2):c.-169+4A>C - FRMD4A_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.907T>C r.(?) p.(Leu303=) Unknown - likely benign g.13743408A>G - FRMD4A(NM_001318337.1):c.1006T>C (p.L336=) - FRMD4A_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1038G>A r.(?) p.(Thr346=) Unknown - likely benign g.13735977C>T g.13693977C>T FRMD4A(NM_018027.4):c.1038G>A (p.T346=) - FRMD4A_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1391G>A r.(?) p.(Arg464His) Unknown - VUS g.13708309C>T g.13666309C>T FRMD4A(NM_001318337.1):c.1490G>A (p.R497H), FRMD4A(NM_001318337.2):c.1490G>A (p.R497H) - FRMD4A_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1391G>A r.(?) p.(Arg464His) Unknown - VUS g.13708309C>T - FRMD4A(NM_001318337.1):c.1490G>A (p.R497H), FRMD4A(NM_001318337.2):c.1490G>A (p.R497H) - FRMD4A_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1427C>T r.(?) p.(Thr476Met) Unknown - VUS g.13708273G>A g.13666273G>A FRMD4A(NM_001318337.1):c.1526C>T (p.T509M) - FRMD4A_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1590G>A r.(?) p.(Ser530=) Unknown - likely benign g.13708110C>T g.13666110C>T FRMD4A(NM_018027.4):c.1590G>A (p.S530=) - FRMD4A_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1723C>T r.(?) p.(Arg575Trp) Unknown - VUS g.13702491G>A g.13660491G>A FRMD4A(NM_018027.3):c.1723C>T (p.(Arg575Trp)) - FRMD4A_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1760C>T r.(?) p.(Ser587Phe) Unknown - likely benign g.13702454G>A g.13660454G>A FRMD4A(NM_018027.3):c.1760C>T (p.(Ser587Phe)) - FRMD4A_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1787A>G r.(?) p.(Tyr596Cys) Unknown - VUS g.13702427T>C g.13660427T>C FRMD4A(NM_018027.3):c.1787A>G (p.(Tyr596Cys)) - FRMD4A_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. _1 c.1876C>T r.(?) p.(Arg626Cys) Both (homozygous) - VUS g.13702338G>A g.13660338G>A - - FRMD4A_000022 - PubMed: Al-Kasbi 2022 - rs747029408 Germline - - - - - DNA SEQ, SEQ-NG - WES ID 10BS10100 PubMed: Al-Kasbi 2022 patient, no other affecteds in family M - Oman - - - - - 1 Johan den Dunnen
-?/. - c.1898+9C>T r.(=) p.(=) Unknown - likely benign g.13702307G>A g.13660307G>A FRMD4A(NM_001318337.1):c.1997+9C>T - FRMD4A_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/? - c.2134_2146dup r.(?) p.(Gly716Alafs*26) Both (homozygous) - likely pathogenic (recessive) g.13699443_13699455dup g.13657443_13657455dup 2134_2146dup13 - FRMD4A_000001 - PubMed: Fine 2015, Journal: Fine 2015 - - Germline yes - - - - DNA SEQ - - ? - PubMed: Fine 2015, Journal: Fine 2015 5-generation family, 6 affected (2F, 3M, 1 fetus), unaffected heterozygous carrier parents/relatives F;M yes Israel Bedouin - - - - 3 Ohad S Birk
?/. - c.2200C>T r.(?) p.(Arg734Trp) Unknown - VUS g.13699389G>A g.13657389G>A FRMD4A(NM_018027.3):c.2200C>T (p.(Arg734Trp)) - FRMD4A_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2288A>C r.(?) p.(Gln763Pro) Unknown - likely benign g.13699301T>G g.13657301T>G FRMD4A(NM_018027.4):c.2288A>C (p.Q763P) - FRMD4A_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2324C>T r.(?) p.(Ser775Leu) Unknown - VUS g.13699265G>A g.13657265G>A FRMD4A(NM_018027.3):c.2324C>T (p.(Ser775Leu)) - FRMD4A_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2350_2355dup r.(?) p.(Gln787_Arg788dup) Unknown - VUS g.13699243_13699248dup - FRMD4A(NM_018027.5):c.2350_2355dup (p.(Gln787_Arg788dup)) - FRMD4A_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2663_2665del r.(?) p.(Gly888del) Unknown - VUS g.13698936_13698938del g.13656936_13656938del FRMD4A(NM_018027.4):c.2663_2665delGCG (p.G888del) - FRMD4A_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2702C>T r.(?) p.(Ser901Leu) Unknown - VUS g.13698887G>A - FRMD4A(NM_018027.5):c.2702C>T (p.(Ser901Leu)) - FRMD4A_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2723C>T r.(?) p.(Ser908Leu) Unknown - VUS g.13698866G>A g.13656866G>A FRMD4A(NM_018027.3):c.2723C>T (p.(Ser908Leu)) - FRMD4A_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2809G>A r.(?) p.(Ala937Thr) Unknown - VUS g.13698780C>T - FRMD4A(NM_018027.5):c.2809G>A (p.(Ala937Thr)) - FRMD4A_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2814G>C r.(?) p.(Ser938=) Unknown - likely benign g.13698775C>G g.13656775C>G FRMD4A(NM_001318337.1):c.2913G>C (p.S971=) - FRMD4A_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2987C>A r.(?) p.(Pro996Gln) Unknown - VUS g.13696479G>T g.13654479G>T FRMD4A(NM_018027.4):c.2987C>A (p.P996Q) - FRMD4A_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2+5C>T r.spl? p.? Unknown - likely benign g.13693898G>A g.13651898G>A FRMD4A(NM_001318337.1):c.*2+5C>T, FRMD4A(NM_001318337.2):c.*2+5C>T - FRMD4A_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2+5C>T r.spl? p.? Unknown - likely benign g.13693898G>A - FRMD4A(NM_001318337.1):c.*2+5C>T, FRMD4A(NM_001318337.2):c.*2+5C>T - FRMD4A_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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