Unique variants in the CHST7 gene

Information The variants shown are described using the NM_019886.2 transcript reference sequence.

7 entries on 1 page. Showing entries 1 - 7.
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Effect     

Reported     

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     
-?/. 1 - c.206C>A r.(?) p.(Ala69Glu) - likely benign g.46433572C>A g.46574137C>A CHST7(NM_019886.3):c.206C>A (p.A69E) - CHST7_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., ?/. 2 - c.533C>T r.(?) p.(Ala178Val) - benign, VUS g.46433899C>T g.46574464C>T CHST7(NM_019886.3):c.533C>T (p.A178V, p.(Ala178Val)) - CHST7_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/. 1 - c.545C>G r.(?) p.(Pro182Arg) - likely benign g.46433911C>G g.46574476C>G - - CHST7_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.784C>T r.(?) p.(Pro262Ser) - likely benign g.46434150C>T g.46574715C>T - - CHST7_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.842G>C r.(?) p.(Arg281Thr) - VUS g.46434208G>C g.46574773G>C - - CHST7_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1237G>A r.(?) p.(Ala413Thr) - VUS g.46434603G>A g.46575168G>A CHST7(NM_019886.3):c.1237G>A (p.(Ala413Thr)) - CHST7_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 2 - c.*623G>A r.(=) p.(=) - VUS g.46457786G>A g.46598351G>A - - CHST7_000001 - - - - Germline - - - - - Yu Sun
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