Unique variants in gene CHST15

Information The variants shown are described using the NM_015892.4 transcript reference sequence.

8 entries on 1 page. Showing entries 1 - 8.
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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.-9529608_*2618854dup - - - pathogenic g.123150811_135380935dup - - - ACADSB_000015 increased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - Johan den Dunnen
?/. 1 - c.923A>G r.(?) p.(Tyr308Cys) - VUS g.125801927T>C g.124042411T>C CHST15(NM_001270764.1):c.923A>G (p.Y308C) - CHST15_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.1347+17_1347+19del r.(=) p.(=) - benign g.125780762_125780764del g.124021246_124021248del CHST15(NM_001270765.2):c.1364_1366delCCC (p.P455del) - CHST15_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.1347+18_1347+19del r.(=) p.(=) - benign g.125780763_125780764del g.124021247_124021248del CHST15(NM_001270765.2):c.1365_1366delCC (p.R456Yfs*49) - CHST15_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.1347+18_1347+19dup r.(=) p.(=) - likely benign g.125780763_125780764dup g.124021247_124021248dup CHST15(NM_001270765.2):c.1363_1364dupCC (p.R456Pfs*29) - CHST15_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/., -/. 2 - c.1347+19del r.(=) p.(=) - VUS, benign g.125780764del g.124021248del 1 more item - CHST15_000003, CHST15_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_AMC
-/. 1 - c.1347+19dup r.(=) p.(=) - benign g.125780764dup g.124021248dup CHST15(NM_001270765.1):c.1366dupC (p.R456Pfs*50) - CHST15_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1347+19_1347+20del r.(=) p.(=) - VUS g.125780752_125780753del g.124021236_124021237del - - CHST15_000008 - PubMed: Kiselev 2019 - - Germline - - - - - Johan den Dunnen
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