Full data view for gene FAM120C

Information The variants shown are described using the NM_017848.4 transcript reference sequence.

32 entries on 1 page. Showing entries 1 - 32.
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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.-55901_*70438del r.0? p.0? Maternal (confirmed) - pathogenic g.54029028_54265532del g.54002595_54239099del PHF8 - PHF8_000032 - PubMed: Hu 2016 - - Germline yes - - 0 - DNA SEQ, SEQ-NG - WES-X chromosome MRX;IDX 25644381-FamP177 PubMed: Hu 2016 family, 2 affected, 2 unaffected heterozygous carrier females M - - - - 0 - - 2 Johan den Dunnen
-?/. - c.122G>T r.(?) p.(Arg41Leu) Unknown - likely benign g.54209510C>A g.54183077C>A FAM120C(NM_017848.5):c.122G>T (p.R41L) - FAM120C_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.131C>A r.(?) p.(Pro44Gln) Unknown - VUS g.54209501G>T g.54183068G>T FAM120C(NM_017848.4):c.131C>A (p.(Pro44Gln)) - FAM120C_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.148G>A r.(?) p.(Ala50Thr) Unknown - VUS g.54209484C>T g.54183051C>T FAM120C(NM_017848.4):c.148G>A (p.(Ala50Thr)) - FAM120C_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.176G>T r.(?) p.(Gly59Val) Unknown - VUS g.54209456C>A g.54183023C>A FAM120C(NM_017848.5):c.176G>T (p.G59V) - FAM120C_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.245T>C r.(?) p.(Ile82Thr) Maternal (inferred) - VUS g.54209387A>G g.54182954= - - FAM120C_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.245T>C r.(?) p.(Ile82Thr) Maternal (inferred) - VUS g.54209387A>G g.54182954= - - FAM120C_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.314T>C r.(?) p.(Leu105Pro) Unknown - likely benign g.54209318A>G - FAM120C(NM_017848.5):c.314T>C (p.L105P) - FAM120C_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.324_329dup r.(?) p.(Pro110_Pro111dup) Maternal (inferred) - VUS g.54209312_54209317dup g.54182879_54182884dup 314_315insGCCGCC - FAM120C_000003 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.324_329dup r.(?) p.(Pro110_Pro111dup) Parent #1 - VUS g.54209312_54209317dup g.54182879_54182884dup - - FAM120C_000003 recurrent, found 11 times PubMed: Tarpey 2009 - - Germline - 11/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 11 Lucy Raymond
-?/. - c.332_333insA r.(?) p.(Gln112SerfsTer128) Unknown - likely benign g.54209299_54209300insT - FAM120C(NM_017848.4):c.332_333insA (p.(Gln112SerfsTer128)) - FAM120C_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.476A>G r.(?) p.(Tyr159Cys) Unknown - VUS g.54209156T>C g.54182723T>C FAM120C(NM_017848.4):c.476A>G (p.(Tyr159Cys)) - FAM120C_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.699+8363A>G r.(=) p.(=) Unknown - likely benign g.54200570T>C - FAM120C(NM_198456.2):c.709A>G (p.M237V) - FAM120C_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.700-145del r.(=) p.(=) Unknown - VUS g.54186194del g.54159761del - - FAM120C_000021 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.700-145del r.(=) p.(=) Unknown - VUS g.54186194del g.54159761del - - FAM120C_000021 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.882G>A r.(?) p.(Met294Ile) Parent #1 - VUS g.54185867C>T g.54159434C>T - - FAM120C_000030 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.1030-187T>C r.(=) p.(=) Maternal (inferred) - VUS g.54177993A>G g.54151560A>G - - FAM120C_000007 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.1030-187T>C r.(=) p.(=) Maternal (inferred) - VUS g.54177993A>G g.54151560A>G - - FAM120C_000007 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.1298G>A r.(?) p.(Arg433Gln) Parent #1 - VUS g.54161998C>T g.54135565C>T - - FAM120C_000029 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.1335+102G>A r.(=) p.(=) Maternal (inferred) - VUS g.54161859C>T g.54135426C>T - - FAM120C_000016 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.1335+102G>A r.(=) p.(=) Maternal (inferred) - VUS g.54161859C>T g.54135426C>T - - FAM120C_000016 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.1909G>A r.(?) p.(Val637Ile) Unknown - likely benign g.54159278C>T g.54132845C>T FAM120C(NM_017848.5):c.1909G>A (p.V637I) - FAM120C_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2147G>A r.(?) p.(Arg716Gln) Unknown - VUS g.54143143C>T g.54116710C>T FAM120C(NM_017848.5):c.2147G>A (p.R716Q) - FAM120C_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2427+5G>T r.spl? p.? Maternal (inferred) - VUS g.54117740C>A g.54091307C>A - - FAM120C_000013 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.2427+5G>T r.spl? p.? Maternal (inferred) - VUS g.54117740C>A g.54091307C>A - - FAM120C_000013 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.2802G>A r.(?) p.(Met934Ile) Parent #1 - VUS g.54112185C>T g.54085752C>T - - FAM120C_000028 recurrent, found 2 times PubMed: Tarpey 2009 - - Germline - 2/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 2 Lucy Raymond
-?/. - c.2930G>A r.(?) p.(Arg977Gln) Unknown - likely benign g.54107803C>T g.54081370C>T FAM120C(NM_017848.4):c.2930G>A (p.(Arg977Gln)) - FAM120C_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2978+63A>G r.(=) p.(=) Maternal (inferred) - VUS g.54107692T>C g.54081259T>C - - FAM120C_000010 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.2978+63A>G r.(=) p.(=) Maternal (inferred) - VUS g.54107692T>C g.54081259T>C - - FAM120C_000010 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.3037-147dup r.(=) p.(=) Unknown - VUS g.54099881dup g.54073448dup - - FAM120C_000019 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.3037-147dup r.(=) p.(=) Unknown - VUS g.54099881dup g.54073448dup - - FAM120C_000019 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
+?/. - c.3044C>T r.(?) p.(Ser1015Leu) Unknown - likely pathogenic g.54099713G>A g.54073280G>A - - FAM120C_000039 - PubMed: Grozeva 2015, Journal: Grozeva 2015 - - Germline/De novo (untested) - - - 0 - DNA SEQ, SEQ-NG - 565 gene panel ID UK10K_FINDWGA5410866 PubMed: Grozeva 2015, Journal: Grozeva 2015 - M - - - - 0 - - 1 Johan den Dunnen
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