Full data view for gene FAM3A

Information The variants shown are described using the NM_001171132.1 transcript reference sequence.

11 entries on 1 page. Showing entries 1 - 11.
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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.-978236_*169301dup - - Maternal (confirmed) - pathogenic g.153565841_154722429dup g.154337626_155494214dup - - DKC1_000000 increased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - 0 - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - 0 Decipher - 1 Johan den Dunnen
./. - c.-116915_*164734dup r.0? p.0? Maternal (inferred) - pathogenic g.153570408_153861108dup g.154342193_154632893dup GDI1 - FLNA_000307 - PubMed: Hu 2016 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES-X chromosome MRX;IDX 25644381-FamMRX75/D13 PubMed: Hu 2016 family, 1 affected, 4 unaffected heterozygous carrier females M - - - - 0 - - 1 Johan den Dunnen
-?/. - c.76C>T r.(?) p.(Leu26Phe) Unknown - likely benign g.153741198G>A - FAM3A(NM_001282311.1):c.20C>T (p.P7L) - FAM3A_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.127+436G>A r.(=) p.(=) Unknown - likely benign g.153740711C>T - FAM3A(NM_001282311.1):c.96G>A (p.S32=) - FAM3A_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.158G>A r.(?) p.(Arg53Gln) Unknown - likely benign g.153736922C>T - FAM3A(NM_001282311.1):c.200G>A (p.R67Q) - FAM3A_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.308G>A r.(?) p.(Arg103His) Unknown - VUS g.153736646C>T g.154508315C>T FAM3A(NM_001282311.1):c.350G>A (p.R117H) - FAM3A_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.333C>T r.(?) p.(Asn111=) Unknown - likely benign g.153736621G>A - FAM3A(NM_001282311.1):c.375C>T (p.N125=) - FAM3A_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 7 c.393C>T r.(?) p.(=) Parent #1 - likely benign g.153735814G>A g.154507483G>A N131N - FAM3A_000004 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
-/. - c.422A>G r.(?) p.(His141Arg) Unknown - benign g.153735785T>C g.154507454T>C FAM3A(NM_001282311.1):c.464A>G (p.H155R) - FAM3A_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.598-3C>T r.spl? p.? Unknown - VUS g.153735240G>A g.154506909G>A FAM3A(NM_001171132.1):c.598-3C>T (p.?) - FAM3A_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.683C>T r.(?) p.(Thr228Met) Unknown - likely benign g.153735152G>A g.154506821G>A FAM3A(NM_001282311.1):c.725C>T (p.T242M) - FAM3A_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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