All variants in the SDR9C7 gene

Information The variants shown are described using the NM_148897.2 transcript reference sequence.

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     
+?/. - c.551A>G r.(?) p.(Asp184Gly) - likely pathogenic g.57324019T>C g.56930235T>C - - SDR9C7_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.563G>A r.(?) p.(Arg188His) - VUS g.57323335C>T - SDR9C7(NM_148897.3):c.563G>A (p.R188H) - SDR9C7_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. - c.703G>A r.(?) p.(Gly235Arg) - likely pathogenic g.57323195C>T g.56929411C>T - - SDR9C7_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
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