Unique variants in the PCYT1B gene

Information The variants shown are described using the NM_004845.4 transcript reference sequence.

14 entries on 1 page. Showing entries 1 - 14.
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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.-25481C>T r.(?) p.(=) - likely benign g.24690703G>A g.24672586G>A PCYT1B(NM_001163264.1):c.47C>T (p.P16L) - PCYT1B_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-25470C>T r.(?) p.(=) - likely benign g.24690692G>A g.24672575G>A PCYT1B(NM_001163264.1):c.58C>T (p.R20C) - PCYT1B_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.-51C>T r.(?) p.(=) - VUS g.24665273G>A g.24647156G>A - - PCYT1B_000016 - - - - Germline - - - - - Yu Sun
-?/. 1 2 c.126T>G r.(?) p.(=) - likely benign g.24637193A>C g.24619076A>C T42T - PCYT1B_000024 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
?/. 2 - c.486+207T>G r.(=) p.(=) - VUS g.24607933A>C g.24589816A>C - - PCYT1B_000013 - - - - Germline - - - - - Yu Sun
-?/. 1 6 c.609G>A r.(?) p.(=) - likely benign g.24597532C>T g.24579415C>T S203S - PCYT1B_000023 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
?/. 1 - c.708+129del r.(=) p.(=) - VUS g.24597317del g.24579200del - - PCYT1B_000019 - - - - Germline - - - - - Yu Sun
?/. 1 - c.708+129dup r.(=) p.(=) - VUS g.24597317dup g.24579200dup - - PCYT1B_000011 - - - - Germline - - - - - Yu Sun
?/. 1 - c.982C>T r.(?) p.(Arg328Trp) - VUS g.24580538G>A g.24562421G>A PCYT1B(NM_004845.4):c.982C>T (p.R328W) - PCYT1B_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.*2140G>A r.(=) p.(=) - VUS g.24578270C>T g.24560153C>T - - PCYT1B_000008 - - - - Germline - - - - - Yu Sun
?/. 2 - c.*2819A>T r.(=) p.(=) - VUS g.24577591T>A g.24559474T>A - - PCYT1B_000005 - - - - Germline - - - - - Yu Sun
?/. 2 - c.*2848_*2851dup r.(=) p.(=) - VUS g.24577570_24577573dup g.24559453_24559456dup - - PCYT1B_000003 - - - - Germline - - - - - Yu Sun
?/. 4 - c.*2869_*2872dup r.(=) p.(=) - VUS g.24577542_24577545dup g.24559425_24559428dup - - PCYT1B_000001, PCYT1B_000021 - - - - Germline - - - - - Yu Sun
?/. 1 - c.*2976del r.(=) p.(=) - VUS g.24577434del g.24559317del - - PCYT1B_000020 - - - - Germline - - - - - Yu Sun
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