All transcript variants in gene PIGC

Information The variants shown are described using the NM_153747.1 transcript reference sequence.

6 entries on 1 page. Showing entries 1 - 6.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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.24del VUS r.(?) p.(Asn8Lysfs*51) g.172411739del - PIGC(NM_002642.3):c.24delC (p.N8Kfs*51) - C1orf105_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 2 c.61C>T - r.(?) p.(Arg21*) g.172411702G>A - - - PIGC_000001 - PubMed: Edvardson et al. 2017 - - Germline - - - 0 - Philippe Campeau
-?/. - c.393T>C likely benign r.(?) p.(=) g.172411370A>G - PIGC(NM_002642.3):c.393T>C (p.Y131=) - C1orf105_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 2 c.566T>G - r.(?) p.(Leu189Trp) g.172411197A>C - - - PIGC_000003 - PubMed: Edvardson et al. 2017 - - Germline yes - - 0 - Philippe Campeau
+?/. 2 c.566T>G - r.(?) p.(Leu189Trp) g.172411197A>C - - - PIGC_000003 - PubMed: Edvardson et al. 2017 - - Germline yes - - 0 - Philippe Campeau
+?/. 2 c.635T>C - r.(?) p.(Leu212Pro) g.172411128A>G - - - PIGC_000002 - PubMed: Edvardson et al. 2017 - - Germline - - - 0 - Philippe Campeau
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