Full data view for gene FH

This database is one of the TCA cycle gene variant databases
Information The variants shown are described using the NM_000143.3 transcript reference sequence.

5 entries on 1 page. Showing entries 1 - 5.
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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     
?/? 3 c.309C>T r.(=) p.(=) - - Parent #1 - - g.241676972G>A g.241513672G>A 309C>T (Ala103Ala) - FH_000016 - PubMed: Barker - rs10926501 Germline - - - 0 - DNA SEQ - - Healthy/Control - - 1 family 1 affected - - - - - 0 - - 1 Jean-Pierre Bayley
-/-? 3 c.309C>T r.(=) p.(=) - - Unknown - - g.241676972G>A g.241513672G>A p.Ala60Ala - FH_000016 - - - rs10926501 Unknown - - - 0 - DNA SEQ - - cancer - - - - - Mali - - 0 - - 1 Audrey Remenieras
-/-? 3 c.309C>T r.(=) p.(=) - - Unknown - - g.241676972G>A g.241513672G>A p.Ala60Ala - FH_000016 Fh activity : normal - - rs10926501 Unknown - - - 0 - DNA SEQ - - cancer - - - - - Mali - - 0 - - 1 Audrey Remenieras
-/. - c.309C>T r.(?) p.(=) - - Unknown - benign g.241676972G>A g.241513672G>A FH(NM_000143.3):c.309C>T (p.A103=) - FH_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.309C>T r.(?) p.(=) - - Unknown - benign g.241676972G>A g.241513672G>A FH(NM_000143.3):c.309C>T (p.A103=) - FH_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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