Full data view for gene FUNDC1

Information The variants shown are described using the NM_173794.3 transcript reference sequence.

7 entries on 1 page. Showing entries 1 - 7.
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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.46G>A r.(?) p.(Asp16Asn) Unknown - likely benign g.44401330C>T - FUNDC1(NM_173794.3):c.46G>A (p.D16N) - FUNDC1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.48C>T r.(=) p.(=) Parent #1 - likely benign g.44401328G>A g.44542082G>A D16D - FUNDC1_000006 recurrent, found 5 times PubMed: Tarpey 2009 - - Germline - 5/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 5 Lucy Raymond
-?/. - c.81A>C r.(=) p.(=) Parent #1 - likely benign g.44401295T>G g.44542049T>G A27A - FUNDC1_000005 recurrent, found 3 times PubMed: Tarpey 2009 - - Germline - 3/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 3 Lucy Raymond
-?/. - c.130A>G r.(?) p.(Met44Val) Unknown - likely benign g.44401246T>C g.44542000T>C FUNDC1(NM_173794.3):c.130A>G (p.M44V) - FUNDC1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.166A>G r.(?) p.(Met56Val) Unknown - VUS g.44401210T>C g.44541964T>C FUNDC1(NM_173794.3):c.166A>G (p.(Met56Val)) - FUNDC1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.185+214T>C r.(=) p.(=) Maternal (inferred) - VUS g.44400977A>G g.44541731A>G - - FUNDC1_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.185+214T>C r.(=) p.(=) Maternal (inferred) - VUS g.44400977A>G g.44541731A>G - - FUNDC1_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
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