Full data view for gene SLC22A7

Information The variants shown are described using the NM_006672.3 transcript reference sequence.

4 entries on 1 page. Showing entries 1 - 4.
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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.680G>A r.(?) p.(Arg227His) Unknown - VUS g.43267663G>A g.43299925G>A SLC22A7(NM_006672.3):c.680G>A (p.(Arg227His)) - SLC22A7_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.899C>T r.(?) p.(Ala300Val) Unknown - VUS g.43268950C>T g.43301212C>T SLC22A7(NM_006672.3):c.899C>T (p.(Ala300Val)) - SLC22A7_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1126A>G r.(?) p.(Thr376Ala) Unknown - VUS g.43270008A>G g.43302270A>G SLC22A7(NM_153320.2):c.1132A>G (p.T378A) - CRIP3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3655A>C r.(=) p.(=) Unknown - VUS g.43276118A>C g.43308380A>C CRIP3(NM_206922.2):c.73T>G (p.(Trp25Gly)) - CRIP3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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