All variants in the FAM50A gene

Information The variants shown are described using the NM_004699.3 transcript reference sequence.

20 entries on 1 page. Showing entries 1 - 20.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
./. - c.-106742_*1043649dup - - - pathogenic g.153565841_154722429dup g.154337626_155494214dup - - DKC1_000000 increased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - 0 - Johan den Dunnen
./. - c.-102175_*182328dup r.0? p.0? - pathogenic g.153570408_153861108dup g.154342193_154632893dup GDI1 - FLNA_000307 - PubMed: Hu 2016 - - Germline - - - 0 - Johan den Dunnen
-?/. - c.-4126C>T r.(?) p.(=) - likely benign g.153668457C>T g.154440110C>T GDI1(NM_001493.2):c.558C>T (p.G186=) - GDI1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-3753C>T r.(?) p.(=) - likely benign g.153668830C>T g.154440483C>T GDI1(NM_001493.3):c.696C>T (p.G232=) - GDI1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.-3735T>C r.(?) p.(=) - likely benign g.153668848T>C g.154440501T>C GDI1(NM_001493.2):c.714T>C (p.F238=) - GDI1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.-2564G>A r.(?) p.(=) - VUS g.153670019G>A g.154441672G>A GDI1(NM_001493.2):c.869G>A (p.(Arg290His)) - GDI1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.-2109G>A r.(?) p.(=) - VUS g.153670474G>A g.154442127G>A GDI1(NM_001493.2):c.1008G>A (p.(Met336Ile)) - GDI1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
+?/. - c.-2012G>C r.(?) p.(=) - likely pathogenic g.153670571G>C g.154442224G>C - - GDI1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.-1997G>C r.(?) p.(=) - likely benign g.153670586G>C g.154442239G>C GDI1(NM_001493.2):c.1120G>C (p.E374Q) - GDI1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-1817T>C r.(?) p.(=) - likely benign g.153670766T>C g.154442419T>C GDI1(NM_001493.2):c.1182T>C (p.C394=) - GDI1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.-1662G>A r.(?) p.(=) - VUS g.153670921G>A - GDI1(NM_001493.2):c.1246G>A (p.D416N) - GDI1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.-1657C>G r.(?) p.(=) - VUS g.153670926C>G g.154442579C>G - - GDI1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.-1626G>A r.(?) p.(=) - likely benign g.153670957G>A - GDI1(NM_001493.2):c.1282G>A (p.A428T) - GDI1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-1585C>T r.(?) p.(=) - likely benign g.153670998C>T - GDI1(NM_001493.2):c.1323C>T (p.V441=) - GDI1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.320A>G r.(?) p.(Lys107Arg) - likely benign g.153674786A>G - FAM50A(NM_004699.3):c.320A>G (p.(Lys107Arg)) - GDI1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.410C>T r.(?) p.(Ala137Val) - likely benign g.153674876C>T g.154446528C>T FAM50A(NM_004699.3):c.410C>T (p.(Ala137Val)) - FAM50A_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.410C>T r.(?) p.(Ala137Val) - VUS g.153674876C>T g.154446528C>T - - FAM50A_000001 recurrent, found 2 times PubMed: Tarpey 2009 - - Germline - 2/208 cases - 0 - Lucy Raymond
-?/. - c.597C>T r.(?) p.(Ile199=) - likely benign g.153677251C>T g.154448903C>T FAM50A(NM_004699.3):c.597C>T (p.I199=) - FAM50A_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.612C>T r.(=) p.(=) - likely benign g.153677266C>T g.154448918C>T S204S - FAM50A_000002 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
?/. - c.956T>G r.(?) p.(Phe319Cys) - VUS g.153678612T>G g.154450264T>G - - FAM50A_000003 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
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