Full data view for gene SDHAF2

This database is one of the TCA cycle gene variant databases
Information The variants shown are described using the NM_017841.2 transcript reference sequence.

23 entries on 1 page. Showing entries 1 - 23.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Predict/SIFT     

Predicted     

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     
?/. 1i c.-52T>C r.(=) p.(=) - - Parent #1 - VUS g.61197567T>C g.61430095T>C - - SDHAF2_000006 - PubMed: Dénes - - Unknown - - - 0 - DNA SEQ - - PGL - PubMed: Dénes - - - - - - 0 - - 1 Jean-Pierre Bayley
-/. - c.36+10G>A r.(=) p.(=) - - Unknown - benign g.61197664G>A g.61430192G>A - - SDHAF2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.36+17T>C r.(=) p.(=) - - Unknown - benign g.61197671T>C g.61430199T>C SDHAF2(NM_017841.2):c.36+17T>C - SDHAF2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.37-736A>C r.(=) p.(=) - - Unknown - benign g.61204361A>C g.61436889A>C SDHAF2(NM_017841.2):c.37-736A>C - SDHAF2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.97C>T r.(?) p.(Arg33Cys) - - Unknown - likely benign g.61205157C>T g.61437685C>T SDHAF2(NM_017841.2):c.97C>T (p.R33C) - SDHAF2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.98G>A r.(?) p.(Arg33His) - - Unknown - likely benign g.61205158G>A g.61437686G>A SDHAF2(NM_017841.2):c.98G>A (p.R33H) - SDHAF2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/- 3 c.139A>G r.(?) p.(Met47Val) - - Unknown - benign g.61205199A>G g.61437727A>G - - SDHAF2_000002 - PubMed: Bayley - - Germline - SNP - 0 - DNA SEQ - - PGL - - Dutch SNP; 1 isolated case - - - - - 0 - - 1 Jean-Pierre Bayley
-?/. - c.139A>G r.(?) p.(Met47Val) - - Unknown - likely benign g.61205199A>G g.61437727A>G - - SDHAF2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/? 3 c.151C>G r.(?) p.(Pro51Ala) 0 - Unknown - VUS g.61205211C>G g.61437739C>G - - SDHAF2_000005 - - - - Unknown - - - 0 - DNA SEQ - - PGL - - - - - - - - 0 - - 1 Luigi Mori
?/. - c.169G>A r.(?) p.(Glu57Lys) - - Unknown - VUS g.61205229G>A g.61437757G>A SDHAF2(NM_017841.2):c.169G>A (p.E57K) - SDHAF2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 3 c.232G>A r.(?) p.(Gly78Arg) 0 - Unknown - pathogenic g.61205292G>A g.61437820G>A - - SDHAF2_000001 - PubMed: Hao, PubMed: Bayley, PubMed: Piccini - - Germline - - - 0 - DNA SEQ - - PGL - - Dutch Founder Mutation,Spanish recurrent mutation; 2 families 53 affected; 1 isolated case - - Netherlands - - 0 - - 2 Jean-Pierre Bayley
+/+ 3 c.232G>A r.(?) p.(Gly78Arg) 0 - Unknown - pathogenic g.61205292G>A g.61437820G>A - - SDHAF2_000001 - PubMed: Piccini - - Germline - - - 0 - DNA SEQ - - PGL - - 1 isolated case - - Italy - - 0 - - 1 Jean-Pierre Bayley
+/. - c.232G>A r.(?) p.(Gly78Arg) - - Unknown - pathogenic g.61205292G>A g.61437820G>A - - SDHAF2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.232G>C r.(?) p.(Gly78Arg) - - Unknown - pathogenic g.61205292G>C g.61437820G>C - - SDHAF2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.239T>C r.(?) p.(Leu80Ser) - - Unknown - VUS g.61205299T>C g.61437827T>C - - SDHAF2_000016 - Papuc et al., submitted - rs376560419 De novo - - - 0 - DNA SEQ-NG-I blood WES EE 69986 - - F no Switzerland - - 0 - - 1 Anaïs Begemann
-/. - c.260+23T>C r.(=) p.(=) - - Unknown - benign g.61205343T>C g.61437871T>C - - SDHAF2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.261-42G>A r.(=) p.(=) - - Unknown - benign g.61205434G>A g.61437962G>A - - SDHAF2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/- 4 c.274G>A r.(?) p.(Glu92Lys) 0 - Unknown - benign g.61205489G>A g.61438017G>A - - SDHAF2_000003 - - - - Germline - - - 0 - DNA SEQ - - PGL - - 1 family 2 affected - - Belgium - - 0 - - 0 Jean-Pierre Bayley
?/. 4 c.319C>T r.(=) p.(=) - - Parent #1 - VUS g.61205534C>T g.61438062C>T c.[319C>T];[=] - SDHAF2_000007 VUS PubMed: Rattenberry - - Unknown - - - 0 - DNA SEQ-NG - - PGL - PubMed: Rattenberry - - - United Kingdom (Great Britain) - - 0 - - 1 Jean-Pierre Bayley
+?/. - c.336_337insGATT r.(?) p.(Ser113Aspfs*2) - - Unknown ACMG likely pathogenic g.61205551_61205552insGATT g.61438079_61438080insGATT - - SDHAF2_000020 ACMG: PVS1,PM2 - - - Germline - - - 0 - DNA SEQ-NG-S - - ? - - - F - - - - 0 - - 1 Andreas Laner
+?/+? 4 c.355dup r.(?) p.(Tyr119Leufs*8) - - Unknown - likely pathogenic g.61205570dup g.61438098dup c.357_358insT / p.Tyr119LeufsX7 - SDHAF2_000004 - PubMed: Piccini - - Germline - - - 0 - DNA SEQ - - PGL - - 1 isolated case - - Italy - - 0 - - 1 Jean-Pierre Bayley
?/. 5 c.*12C>T r.(=) p.(=) - - Parent #1 - VUS g.61213555C>T g.61446083C>T - - SDHAF2_000008 - PubMed: Casey - - Unknown - - - 0 - DNA SEQ - - PGL - PubMed: Casey - - - Ireland - - 0 - - 2 Jean-Pierre Bayley
-/. - c.*12C>T r.(=) p.(=) - - Unknown - benign g.61213555C>T g.61446083C>T - - SDHAF2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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