All transcript variants in gene SDHA

This database is one of the TCA cycle gene variant databases
Information The variants shown are described using the NM_004168.2 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Predict/SIFT     

Predicted     

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     
+/? 1i c.64-2A>G r.[64_73del, r.63_64ins64-54_64-1;64-2a>g] p.(=) - - - pathogenic g.223595A>G g.223480A>G - - SDHA_000022 - - - - Unknown - - - 0 - Herma Renkema
+/. - c.64-2A>G r.spl? p.? - - - pathogenic g.223595A>G g.223480A>G SDHA(NM_004168.3):c.64-2A>G - SDHA_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
+/. - c.64-2A>G r.spl? p.? - - - pathogenic g.223595A>G g.223480A>G SDHA(NM_004168.3):c.64-2A>G - SDHA_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
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